HOBB Programme

HandsOn: Biobanks
creating values
FROM SAMPLE TO RESULT
INTERACTIVE CONFERENCE
ON BIOBANKING
Idea Labs
The Route Interactive Exhibition
Plenary Sessions Future Issues for Biobanks
Knowledge Sharing
Educational Sessions
Advanced Molecular Technologies for Sample Analysis
Pricing Models for Biobanking
Uppsala, 2021 September 2012 bbmri.se
The conference is
arranged by
BBMRI.se
together with
BBMRI.fi
and Biobank Norway.
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WELCOME TO HandsOn: Biobanks
Dear Reader,
Biobanking is of vital importance to many areas - such as academic research, health care, governmental health assessment of
the population, and the life-science industry. Molecular diagnostics will play an increasing role in future healthcare,
permitting early diagnosis and preventive treatment, as well as prediction of which treatment best benefits which patient.
Many of the world's most devastating disorders might be caused by complex interactions between genes, environment and
lifestyle. Therefore the combination of genetic, medical and lifestyle information will position biobanking as a powerful
resource to help researchers unravel the origins of important diseases. Different data sources in different formats have
been set up to support different aspects of genomics, proteomics, epigenetics, lifestyle information, and etcetera. Lack of
standardisation is a general problem that undermines utilization of many biological samples. In spite of several large-scale
projects and global achievements in harmonization and standardisation, there are still largely isolated niche areas, with
limited mutual awareness of the problems being tackled, the progress made, and of the possible solutions that each niche
could offer to another in support of common goals. Interoperability of biobanks facilitating international collaborations is
essential.
For the first time we have created an interactive biobank exhibition THE ROUTE where you follow the research
process and discuss the value of biobank research for society as well as for current and future patients. The conference also
offers keynote lectures, educational sessions and a knowledge-sharing programme. This conference gives a great
opportunity to meet experts from all around the world in the biobanking area and to discuss these future issues for
biobanking.
BBMRI.se wants to thank all speakers and exhibitors for making this conference real. We also want to give our warmest
thanks to our co-organisers BBMRI.fi and Biobank Norway for believing in our HandsOn idea. It has also been a great value
for us to arrange this conference in collaboration with the organisations behind the pre-conference: the International
Biobanking Summit: Future Directions, arranged by P3G, ISBER, BioSHaRE.EU, ENGAGE and ESBB, and hosted by
BBMRI.se.
We also want to give a great thanks to all visitors for showing that the biobanking area is important and interesting. And
the last thanks go to you all in the organizing committee who made this conference possible. The organizing committee has
been made up of members representing different work packages in BBMRI.se together with BBMRI.fi, Biobank Norway and
representatives from industry and the health care sector.
I wish you all welcome to Uppsala, Sweden and HandsOn: Biobanks!
Yours sincerely
Professor Jan-Eric Litton
Executive Director BBMRI.se
HandsOn: Biobanks | Uppsala 20-21 September 2012 | Interactived conference arranged by BBMRI.se together with BBMRI.fi and Biobank Norway 1
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CONTENTS
THE ROUTE FROM SAMPLE TO RESULT ....................................................................................................................................................... 5
ABOUT THE CONFERENCE ................................................................................................................................................................................ 6
PROGRAMME ............................................................................................................................................................................................................ 7
SPEAKER BIOGRAPHIES....................................................................................................................................................................................... 21
KEYNOTE PRESENTATIONS ............................................................................................................................................................................. 33
EDUCATIONAL SESSIONS ................................................................................................................................................................................. 34
IDEA LABS ................................................................................................................................................................................................................. 36
ADVANCED MOLECULAR TECHNOLOGIES FOR SAMPLE ANALYSIS............................................................................................ 41
PRICING MODELS FOR BIOBANKING.......................................................................................................................................................... 44
FOLLOW UP FROM PRE-CONFERENCE ...................................................................................................................................................... 45
KNOWLEDGE SHARING SESSIONS ............................................................................................................................................................... 45
POSTER SESSIONS ................................................................................................................................................................................................. 53
SPONSORS AND EXHIBITORS ......................................................................................................................................................................... 74
You provide the samples
Well provide the efficiency
The collection, management, storage and What makes us different?
usage of samples is a complex challenge. A holistic approach ensuring effective
The physical handling of samples is integration of information and systems.
only the beginning. Managing the large
volumes of associated information is the A focus on process improvements
real challenge particularly in the face leading to more effective working
of increasing cost pressures, regulatory methods, cost savings, and simpler
compliance, and ethical concerns. system administration.
The value of a sample management Flexible and future-proof solutions that

system is entirely dependent on how deliver value over their entire life cycle.
efficiently it operates. And that is our
area of expertise. A quality-assured change process
that provides a basis for continuous
We have been helping life science improvement.
organizations to optimize their process
and information management for more Come and speak with our
than ten years. We understand the nature representatives at Hands On:
of complex systems and offer powerful Biobanks, Uppsala, 20-21 Sep. 2012
solutions for biobanking and sample and find out what we can do for you.
management.
www.plantvision.se
promising
DISCOVERIES
Carry out high throughput biomarker discovery with low
sample consumption. Analyze 74 biomarkers using just
2 l of biobanked sample.
generating
POSSIBILITIES
Allows you to work towards key objectives such as earlier
detection of cancer, improving stratification of risk patients
and reducing the cost of drug development.
delivering
FLEXIBILITY
An easy to use solution that allows you to analyze anything
from one to 74 biomarkers in parallel with the degree of
multiplexing having no impact on analytical performance.
THE ROUTE FROM SAMPLE TO RESULT
During the conference, we are arranging an interactive exhibition where you can follow the research process from
informed consent and sample collection through handling, preparation, storage, to analysis of samples and data. We also
present the value of research for society as well as current and future patients. We are creating our own version of a
science caf dealing with ethics and trust. You can bring your coffee and listen to discussions on how to best return
information to patients, the Swedish Data Inspection Boards decision to close the LifeGene study, and much more. In the
other parts of the exhibition, you can meet the experts from both industry and academy.
With help from our sponsors Qiagen, Thermo Fischer Scientific and Plant Vision as well as other exhibitors, we are able to
offer you some 'HandsOn' biobanking experiences. During the conference, you can register your consent, aliquot your
sample, find out how RNA is extracted and more.
THE ROUTE has been created with a lot of help from researchers in different work packages within BBMRI.se, but we have
also had help from outside. The Swedish MS Registry and the IMSE-study have worked hard to show you the value of
biobank research for drug development from the perspective of the post-marketing surveillance project on Tysabri
(Natalizumab) that they are running. Researchers from the HPV group in the Departments of Medical Epidemiology and
Biostatistics and Laboratory Medicine at Karolinska Institutet have helped us illustrate the clinical practice value with the
connection between the human papillomavirus (HPV) and cervical cancer. We also received help from a group of
researchers at the Department of Medicine at Karolinska Institutet to show how biobank research on Rheumatoid Arthritis
can help create health economic value in the future. None of this would have been possible without them.
In THE ROUTE you will also meet a lot of experts: they come from industry, academy and authorities that regulate the
research. You can meet them in different parts of exhibition; listen to interesting discussions in our Ethics & Trust science
caf. Here, we will discuss in what way trust is an issue in biobank research. What we can learn from the LifeGene debate.
The role of commercial interests. Whether a more expedient regulatory process desirable and possible and how we should
handle incidental findings in association with biobank and genome research.
We hope to see you on THE ROUTE from sample to result!
ABOUT THE CONFERENCE
Organizing committee:
Kathinka Evers
Centre for Research Ethics & Bioethics (CRB), Uppsala University & BBMRI.se WP 7, kathinka.evers@crb.uu.se
Lena Brynne
AstraZeneca, Lena.Brynne@astrazeneca.com
Mark Divers
Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet & BBMRI.se WP6, mark.divers@ki.se
Josepine Fernow
Centre for Research Ethics & Bioethics (CRB), Uppsala University, josepine.fernow@crb.uu.se
Joakim Galli
Department of Immunology, Genetics and Pathology (IGP), Uppsala University & BBMRI.se WP4, joakim.galli@igp.uu.se
Jennifer Harris
Division of Epidemiology, The Norwegian Institute of Public Health, Biobank Norway, jennifer.harris@fhi.no
Mats G. Hansson
Centre for Research Ethics & Bioethics (CRB), Uppsala University & BBMRI.se WP 7, mats.hansson@crb.uu.se
Erik Ingelsson
Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet & BBMRI.se WP2, erik.ingelsson@ki.se
Mats Karlsson
rebro County Council, mats.karlsson3@orebroll.se
Isabelle Budin Ljsne
Division of Epidemiology, The Norwegian Institute of Public Health, Biobank Norway, isabelle.budin.ljosne@fhi.no
Loreana Norlin
Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet & BBMRI.se WP5, loreana.norlin@ki.se
Sofie Petersson
Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet & BBMRI.se WP1, sofie.petersson@ki.se
Gunnel Tybring
Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet & BBMRI.se WP6, gunnel.tybring@ki.se
Sanela Kjellqvist
Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet & BBMRI.se WP2, sanela.kjellqvist@ki.se
Ulrika Andrasson
Lund University & BBMRI.se WP4, ulrika.andreasson@immun.lth.se
Secretariat:
Congrex Sweden AB
P.O Box 5619
114 86 Stockholm
E-mail: biobanks@congrex.com
Phone: +46 8 459 66 00
Venue:
Uppsala Concert & Congress Hall (Uppsala Konsert & Kongress)
Visiting address: Vaksala torg 1
Address: 753 75 Uppsala, Sweden
Phone: +46 18 727 90 00
www.ukk.se
More information:
http://bbmri.se/
6 HandsOn: Biobanks | Uppsala 20-21 September 2012 | Interactived conference arranged by BBMRI.se together with BBMRI.fi and Biobank Norway
CONFERENCE PROGRAMME
WEDNESDAY SEPTEMBER 19
18:00 Welcome reception [Katalin & All That Jazz stra station]
Registration for early arrivers The reception is hosted by the BBMRI.se work
[18:00-20:00] packages on Ethics & Law (WP7) and Molecular
Analysis Resources (WP4)
THURSDAY SEPTEMBER 20
08:00 Registration opens [ground floor]
08:00 THE ROUTE [hall D, ground floor]
09:00 Welcome & introduction [hall B]

Jan-Eric Litton (BBMRI.se, Sweden)
09:10 Biobanks for clinical practice:

[1.0.1]
Future issues
Helen Moore (National Institutes of Health, USA)
09:40 Discussion
09:50 Biobanks for drug development:

[1.0.2]
Future issues
Anders Ekblom (AstraZeneca, Sweden)
10:20 Discussion
10:30 THE ROUTE and coffee [hall D, ground floor]
MEET THE EXPERTS

Bring your coffee to the Ethics & Trust science
caf: In what way is trust an issue in
biobank research?
Don Chalmers (University of Tasmania, Australia)
Linus Johnsson (Uppsala University, Sweden)
PARALLEL SESSIONS
EDUCATIONAL SESSIONS [hall B] IDEA LAB [hall C]
11:00 Educational session: Ethics & regulation 11:00 Gaining knowledge from samples and
data
[2.0.1]
Jennifer Harris (The Norwegian Institute of Public [3.0.1]
Theme Leader: Mathias Uhln (SciLifeLab,
Health, Norway) Sweden)
Jane Reichel (Uppsala University, Sweden) How do we get the most knowledge out of samples
Anna-Sara Lind (Uppsala University, Sweden) and data?
Isabelle Budin-Ljsne (Norwegian Institute of Public How many cohorts do we need?

Health, Norway) Leader: Kristian Hveem (HUNT Biobank,
Norway)
Quality and standards whats best?
Leader: Markus Perola (THL & FIMM, Finland)
11:45 Biobanking practice: How do I get the best
samples for my research? Molecular analysis how to make best
[2.0.2]
use of samples?
Gunnel Tybring (Karolinska Institutet, Sweden) Leader: Mike Taussig (Babraham Bioscience
Technologies Ltd, Cambridge)
Patrik Magnusson (Karolinska Institutet, Sweden)
Informatics - the leap from data to
Pivii Laiho (THL & FIMM, Finland)
knowledge
Leader: Isabel Fortier (McGill University, Canada)
12:30 LUNCH AND OTHER ACTIVITIES THE ROUTE [hall D]

PLAN YOUR BREAK!
MEET THE EXPERTS
Parallel activities during the lunch break: the Route,
Knowledge sharing seminars, poster sessions and Ethics & Trust science caf: What can we
more. learn from the LifeGene debate?
Lunch is served throughout the break in hall D Nancy Pedersen (LifeGene, Sweden)
Erik Janzon (The Swedish Data Inspection Board)
Mats G. Hansson (Uppsala University, Sweden)
EDUCATIONAL SESSION [hall B] IDEA LAB [hall C]
Sample and data analysis 14:00 Working together: academy, healthcare

[3.0.3]
and industry
14:00 Proteomics Theme Leader: Anders Ekblom (AstraZeneca,
Ulf Landegren (Uppsala University, Sweden) Sweden)
[2.0.3]
What do I want from my collaborators?
14:30 Genomics/Transcriptomics What do I have to offer?
Ulf Gyllensten (Uppsala University, Sweden) What can I do to make the collaboration work?
[2.0.4]
Academy Leader: Angelo Paradiso (IRCCS

14:30 Metabolomics Istituto Tumori "Giovanni Paolo II", Italy)
Thomas Moritz (Swedish University of Agricultural
[2.0.5]
Healthcare Leader: Gert Jan van Ommen
Sciences, Sweden)
(Leiden University, the Netherlands)
Pharma Leader: Bjrn Dahllf (Novartis,
If you are interested in sample analysis, we also Switzerland)
recommend the Friday session on advanced Biotech Leader: Kristian Hveem (HUNT
molecular technologies for sample analysis. Biobank, Norway)
IDEA LAB [K3/K4] .
You need to register to attend idea labs.
11:00 The value of biobanking
[3.0.2]
Theme Leader: Henrik Grnberg (Karolinska At the end of the day, all idea labs will be
Institutet, Sweden) summarized in a plenary discussion.
How can we show the benefits of biobanking?
Cost-benefit: how do we secure the funding and trust

to support it all?
Health-economic value
Leader: Stephen Birch (McMaster University,
Canada)
Clinical Practice value
Leader: Joakim Dillner (Karolinska Institutet,
Sweden)
Drug Development value
Leader: David Cox (Pfizer, USA)
Ethical value
Leader: Helena Kriinen (BBMRI.fi. Finland)
KNOWLEDGE SHARING (See programme on pages 12-14)
SEMINARS POSTER SESSIONS [ground floor]
Ethics international perspectives [hall C] Sample analysis

Collection and storage [hall B] Collection and storage I
Sample analysis (Technologies) [K3/K4] Collection and storage II
IDEA LAB [K3/K4, third floor]
14:00 Navigating the ethical and legal

[3.0.4]
framework
Theme Leader: Bartha Maria Knoppers
(McGill University, Canada)
How do we strike the right balance between
individual integrity and improving public health?
Are current informed consent and ethical review
processes fit for purpose today?
Informed Consent Leader: Berge Solberg
(Norwegian University of Science and Technology,
Norway)
Ethical Review Leader: Mats G. Hansson
(Centre for Research Ethics & Bioethics (CRB),
Uppsala University)
Individual integrity Leader: Evert-Ben van
Veen (MedLawconsult, Den Haag, Netherlands)
Collective integrity (public health)
Leader: Joanna Stjernschantz Forsberg (Uppsala
University)
MEET THE EXPERTS

caf: Between patents and patients - The
role of commercial interests
David Cox (Pfizer, USA)
Kathinka Evers (Uppsala University, Sweden)
Joanna Stjernschantz Forsberg (Uppsala
University, Sweden)
16:00 Plenary summary of idea labs [hall B]
For those of you who attended the educational

sessions, this is an opportunity to hear the results
from the idea labs and contribute to the
discussions.
17:00 THE ROUTE [hall D]
18:00 Social event: Dinner You need to register for this event
Frost & Sullivans
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KNOWLEDGE SHARING PROGRAMME: PARALLEL SESSIONS
Ethics & regulation (international perspectives) [hall C] Collection & storage [hall B]
12:50 Biobanks in the information society 12:50 Helsinki Urological Biobank: A new-
[7.0.1]
contextualizing motivations and concerns [7.1.1]
generation integrated biobank for
Karoliina Snell (University of Helsinki , Finland) facilitating personalized medicine and
translational research in urological
cancers
Tuomas Mirtti (Institute for Molecular Medicine
Finland, Finland)
13:10 Disclosure of Genetic Information in 13:10 Estonian Biobank new directions after a
[7.0.2]
Japanese Ethical Guidelines [7.1.2]
collection of 51 000 participants
Megumu Yokono (University of Oxford, Waseda Liis Leitsalu-Moynihan (University of Tartu,
University, UK/Japan) Estonia)
13:30 The Legalization of Taiwan Biobank 13:30 Biospecimen science in The Janus Serum
[7.0.3]
Governance [7.1.3]
Bank
Chien-Te Fan (National Tsing Hua University, Randi Gislefoss (Cancer Registry of Norway,
Taiwan) Norway)
POSTER SESSIONS [Ground floor]

Sample analysis Collection & storage I
12:30 Uppsala Bioresource - Healthy controls 12:30 IMM-Biobank - the first year
[8.0.1]
for research on systemic autoimmune [9.0.1]
Joo Eurico Fonseca & Angela Afonso
diseases (Universidade de Lisboa, Portugal)
Karolina Tandre (Uppsala University, Sweden)
12:40 Proficiency testing program for 12:40 Biobanking of first trimester material to
[8.0.2]
biorepositories [9.0.2]
study immunity and inflammation in
Gunnel Tybring (Karolinska Institutet, Sweden) pregnancy
Astrid Solberg Gundersen (Norwegian University
of Science and Technology (NTNU), Norway)
12:50 Sample analysis for quality control of 12:50 The new brain bank at Karolinska
[8.0.3]
bronchial lavage [9.0.3]
Institutet
Koh Furuta (National Cancer Center Hospital, Caroline Graff (Karolinska Institutet, Sweden)
Japan)
13:00 Study logistics in Janus Serum Bank 13:00 Comparison of tissue fixation methods
[8.0.4]
research projects [9.0.4]
for detection of single transcripts in situ
Marianne Lauritzen (Cancer Registry of Norway, Elin Lundin (Uppsala University, Sweden)
Norway)
13:10 Sources of pre-analytical variations in 13:10 Optimized collection and storage of

[8.0.5]
DNA extracted from blood samples: [9.0.5]
research samples from surgical
analysis of 50000 DNA samples in EPIC specimens
(European Prospective Investigation into Haakon Skogseth (Norwegian University of
Cancer) Science and Technology (NTNU), Norway)
Maimuna Mendy (International Agency for Research
on Cancer)
13:20 Measurement of multiple trace elements 13:20 New innovative technology in the field of
[8.0.6]
in blood samples using high resolution [9.0.6]
repository of cervical cell sample by
inductively coupled mass spectroscopy liquid based cytology
(HR-ICP-MS) Joakim Dillner (Karolinska Institutet, Sweden)
Tore Syversen (Norwegian University of Science
and Technology, Norway)
Sample analysis (Technologies) [K3/K4]
12:50 Visualization of signal pathway activity in The Knowledge sharing programme is the result of
[7.2.1]
single cells using in situ PLA an open call for abstracts.
Ola Sderberg (Uppsala University, Sweden)
13:10 Human glioma cell cultures as a new

[7.2.2]
experimental platform
Karin Forsberg Nilsson (Uppsala University,
Sweden)
13:30 SciLifeLab - a national resource center for

[7.2.3]
the analysis of large-scale projects
Ulf Landegren (Uppsala University, Sweden) &
Maria Srby (SciLifeLab, Sweden)
POSTER SESSION
Collection & storage II
12:30 The Canine Biobank, a part of SLU

[9.1.1]
SciLifeLab Biobank
Susanne Gustafsson (Swedish University of
Agricultural Sciences, Sweden)
12:40 SLU SciLifeLab Biobank An animal plant

[9.1.2]
and microbe biorepository
Lina Strmstedt (Swedish University of Agricultural
Sciences, Sweden)
12:50 FRCBS offers high-quality sample

[9.1.3]
processing service for biobanking
Sari Tiitinen (FRC Blood Service, Finland)
13:00 Biobanking service for Finnish

[9.1.4]
hematological clinics
Tiina Vesterinen (Institute for Molecular Medicine
Finland, Finland)
13:10 Using the Molecular Methods database to

[9.1.5]
harmonise biobank data and encourage
collaborative projects
Tomas Klingstrm (Swedish University of
Agriculture, Sweden)
13:20 Development of an automated extraction

[9.1.6]
workstation for the isolation of genomic
DNA from large volume (1-10ml) human
whole blood samples
Tim Sheehy (Promega Corporation, USA)
The poster session programme continues on the
next page
POSTER SESSION PROGRAMME (continued)
Sample analysis Collection & storage I
13:30 Creating high quality tissue microarrays 13:30 Durrer Center for Cardiogenetic
[8.0.7]
using manual and automated systems (9.0.7]
Research Biobanking
within the Human Protein Atlas J.F. Hermans-van Ast (ICIN Netherlands Heart
Caroline Kampf (Uppsala University, Sweden) Institute, The Netherlands)
13:40 Automated serial extraction of DNA and 13:40 Frequency of sample mix-up in The
[8.0.8]
RNA from biobanked tissue specimens [9.0.8]
Norwegian Mother and Child Cohort
Tobias Sjblom (Department of Immunology, Study (MoBa)
Genetics and Pathology, Uppsala University) Trine Waagsb Skjerden (Norwegian Institute of
Public Health, Norway)
13:50 Development of an Automated Extraction 13:50 MIABIS Minimal Information about

[8.0.9]
Workstation for the Isolation of Genomic [9.0.9]
biobank data sharing
DNA from Large Volume (1-10ml) Roxana Merino Martinez (Karolinska Institutet,
Human Whole Blood Samples Sweden)
Tim Sheehy (Promega Corporation, USA)
Collection & storage II
13:30 The minicapsules for RNA and DNA long

[9.1.7]
term room temperature storage: an
innovative and reliable tool for an
improved biobank management
Christian C. Oste (IMAGENE, S.A., France)
FRIDAY SEPTEMBER 21
08:00 Registration opens [ground floor]
08:00 THE ROUTE [hall D, ground floor]
09:00 Welcome and introduction [hall B]

Anu Jalanko (THL & FIMM, Finland)
09:10 Biobanks for Health Economy:

[1.0.3]
Future issues
Henrik Grnberg (Karolinska Institutet, Sweden)
09:40 Discussion
09:50 Biobanks, Ethics and Trust:

[1.0.4]
Future issues
Bartha Maria Knoppers (McGill University, Canada)
10:20 Discussion

caf: Is a more expedient regulatory
process desirable and possible?
Simon Woods (Newcastle University, UK)
PARALLEL SESSIONS
[hall B] [hall C]
Advanced molecular technologies for Pricing models for biobanking

sample analysis (HUNT/Lifelines)
Moderator: Ulf Landegren (Uppsala University,
Sweden) 11:00 UK Biobank experiences
[no abstract]
Paul Downey (UK Biobank, UK)
11:00 Genomics: Biobanking facilitates systems 11:15 Insights from KI Biobank and BBMRI.se
[4.0.1]
medicine research of acute myeloid [5.0.2]
Mark Divers (KI Biobank, Sweden)
leukemia (AML) and rapid translation in
optimizing clinical treatments of individual
patients
Olli Kallioniemi (University of Helsinki, Finland)
11:30 Genomics: High-resolution genome 11:30 How to ensure economic sustainability in

[4.0.2]
analysis using legacy samples [5.0.3]
a publicly funded biobank?
Ivo Gut (CNAG Centro Nacional de Anlisis Kristian Hveem (HUNT Biobank, Norway)
Genmico, Spain)
12:00 Proteomics: Can protein signatures 11:45 Plenary debate

[4.0.3]
predict cancer? Participants are invited to present their pricing
Carl Borrebaeck (Lund University, Sweden) model (see abstract book for more information)
12:30 LUNCH AND OTHER ACTIVITIES KNOWLEDGE SHARING PROGRAMME
(See pages 17-19)
PLAN YOUR BREAK!
Parallel activities during the lunch break: the Route, SEMINARS
Knowledge sharing seminars, poster sessions and
more. Data analysis [hall C]
Lunch is served throughout the break [hall D] Sample analysis [hall B]
Ethics & regulation [K3]
THE ROUTE [hall D] POSTER SESSIONS [ground floor]
MEET THE EXPERTS Data analysis

Ethics & Trust science caf: How should we Ethics & regulation I
handle incidental findings in association
with biobank and genome research? Ethics & regulation II
Barbro Westerholm (Swedish Parliament)

Marianna Bledsoe (Department of Veterans Affairs,
USA)
Jennifer Viberg (Uppsala University, Sweden)
PARALLEL SESSIONS
[hall B] [hall C]
14:00 Proteomics: A critical view of proteomics 14:00 From summit to action (follow up from
[4.0.4]
for clinical discovery: from shotgun to [6.0.1]
pre-conference)
targeted analyses Jennifer Harris (The Norwegian Institute of Public
Peter James (Lund University, Sweden) Health, Norway)
14:20 Proteomics: Affinity proteomics to profile

[4.0.5]
plasma disease and ageing
Jochen Schwenk (SciLifeLab Stockholm, Sweden)
14:40 Metabolomics: High-Throughput Serum

[4.0.6]
NMR Metabolomics Epidemiology in the
Biobanking Era.
Mika Ala-Korpela (University of Oulu, Finland)
15:00 Coffee [outside hall B]
15:30 Where do we go from here? [hall B]

Debate with introductions by:
Eero Vuorio (University of Helsinki, Finland) and
Gert Jan van Ommen (Leiden University, the
Netherlands
17:00 Conference ends
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USA United Kingdom Switzerland Japan
KNOWLEDGE SHARING - PARALLEL SESSIONS
Data analysis [hall C] Sample analysis [hall B]
12:50 Do only healthy persons participate in 12:50 Rapid heat inactivation of phosphatases
[7.3.1]
population studies? The LifeLines study [7.4.1]
and kinases is essential for reliable
Salome Scholtens (University Medical Center measurement of phosphorylation states
Groningen, the Netherlands) without interference from post-mortem
events
Mats Born (Denator, Sweden)
13:10 ESPRESSO-forte: A platform for power 13:10 Affinity proteomic analysis of serum and
[7.3.2]
analysis and sample size calculations [7.4.2]
plasma pre-analytical conditions
Amadou Gaye (University of Leicester, United Ulrika Qundos (Science for Life Laboratory,
Kingdom) School of Biotechnology, Royal Institute of
Technology, Sweden)
13:30 Towards an intelligent framework to 13:30 Implementation of Room Temperature

[7.3.3]
catalogue and search biobank (meta)data [7.4.3]
Technology for Bio-Sample Preservation
Morris Swertz (UMC Groningen, The Netherlands) Through Effective Workflow
Rolf Muller (Biomatrica, US)
POSTER SESSIONS [Ground floor]

Data analysis Ethics & regulation I
12:30 Piloting of data harmonization methods 12:30 Development of a Governance

[10.0.1]
and tools: the BioSHaRE Healthy Obese [11.0.1]
Framework for INBANK
Project Hawys Williams (Arthritis Research UK, United
Dany Doiron (Public Population Project in Kingdom)
Genomics, Canada)
12:40 Data-pooling across biobanks: 12:40 Open access biobanks and informed
[10.0.2]
Epistemological considerations [11.0.2]
consent; A research paradox?
Ipek Demir (University of Leicester, UK) Clarissa Allen (McGill University and Gnome
Qubec Innovation Centre, Canada)
12:50 Presence of sample associated metadata 12:50 DataSHIELD: an ethically robust solution
[10.0.3]
and genotyping results helps to reliably [11.0.3]
to multiple site individual-level data
evaluate the quality of biobank material analysis?
and recruitment methodology: analysis of Jennifer R Harris (The Norwegian Institute of
18 000 samples from Genome Database of Public Health, Norway)
Latvian Population
Janis Klovins (Latvian Biomedical Research and
Study Centre, Latvia)
13:00 Harmonization of Finnish epidemiological 13:00 Situating the sample: Governance

[10.0.4]
and clinical cohorts data [11.0.4]
through Webs of Inclusion
Kaisa Silander (University of Helsinki and National Karen Melham (University of Oxford, United
Institute for Health and Welfare (THL), Finland) Kingdom)
13:10 Future of large data analysis from Biobank 13:10 Genetic information and privacy
[10.0.5]
Li Li (BGI Europe, China) [11.0.5]
protection (Polish perspective)
Katarzyna akomiec (University of Warsaw/Office
of Human Rights Defender of the Republic of
Poland, Poland)
13:20 BioSHaRE - Biobank Standardisation and 13:20 Pilot study for harmonising bio-resources
[10.0.6]
Harmonisation for Research Excellence in [11.0.6]
citation in publications
the European Union Laurence Mabile (Universit de Toulouse 3 - Paul
Lisette Giepmans (University Medical Center Sabatier, France)
Groningen, The Netherlands)
The poster session programme continues on the next page
Ethics & regulation [K3, third floor]
12:50 Uppsala Biobank- Uppsala University and The Knowledge sharing programme is the result of
[7.5.1]
Uppsala County Council come together to an open call for abstracts.
found a common biobank infrastructure
Anna Beskow (Uppsala Biobank, Sweden)
13:10 Banking on the future: some lessons from

[7.5.2]
the bio-banking bubble
Simon Woods (Newcastle University, United
Kingdom)
13:30 Were not in it for the money; Lay

[7.5.3]
peoples moral intuitions on commercial
use of their biobank
Kristin Solum Steinsbekk (NTNU Norwegian
University of Science and Technology, Norway)
POSTER SESSION [Ground floor]

Ethics & Regulation II
12:40 Research Biobanks: new provision of the

[11.1.1]
Italian Data Protection Authority
Elena Bravo (Public Health Institute, Italy)
Data analysis (continued from previous page) Ethics & regulation I (continued from previous page)
13:30 The SAIL platform: enhancing biobank- 13:30 The ELSI and privacy task force of the
[10.0.7]
based collaborative studies [11.0.7]
Canadian partnership for tomorrow
Ola Spjuth (Karolinska Institutet, Sweden) project: Ethical and legal issues la
Canadienne
Man H. Zawati (McGill University, Canada)
13:40 The challenge of comparing and 13:40 Questionnaire-based evaluation of

[10.0.8]
integrating datasets with disparate [11.0.8]
definitions in biobank terminology
references Martin Fransson (Karolinska Institutet, Sweden)
Sabry Razick (NTNU, Norway)
13:50 Comparative analyses of access

[11.0.9]
arrangements within biobank networks
Situating the Sample: Governance
through Webs of Inclusion
Michiel Verlinden (KU Leuven, Belgium)
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SPEAKER BIOGRAPHIES
He is Principal Investigator of several Operative
Anders Ekblom Oncology Units within national projects of the Italian
Ministry of Health, Lega Italiana Lotta contro i Tumori,
BIO National Council for Research (CNR), and the Italian
Anders Ekblom heads up AstraZenecas new R&D Association of Cancer Research (AIRC), and coordinates
Science and Technology Integration unit which will drive the INQAT National Network (Italian Network for
our partnerships with leading public and private bodies in Quality Assessment of Tumor biomarkers). He is very
the development of better and safer medicines for interested in the area of biobanks. He is national co-
patients. His role is to lead collaborations with other ordinator of Network Nazionale delle Biobanche
companies, academia, governments, regulators, industry Oncologiche and member of the Advisory Committee
bodies and others to examine opportunities to of the Italian Network of BBMRI. Furthermore, he
transform current approaches to clinical research and cooperates with the Cancer Biobank Network within
spot key future science and technology trends. the FP7 BBMRI Project as Italian representative, is
referent for biobanks within EORTC and European
Prior to this appointment in January 2012, Anders led referent within the NIH Early Detection Research
R&Ds Global Medicines Development group who are Network.
accountable for all late stage drug development activities
across the AstraZeneca portfolio, in addition to Dr Paradiso is also very involved in the field of
providing expertise to support delivery of the early education. He is the Chair of the Education and Training
pipeline. Working Group of the Organisation of European Cancer
Institutes (OECI) and Chair of the Education and
Anders joined Astra in 1993 from the Karolinska Training Work Package within the FP7 project
Institute and Karolinska Hospital in Stockholm, where he EurocanPlatform.
was a senior lecturer and Director for the Perianesthetic
Unit. His previous roles at AstraZeneca have included: He is author of more than 300 scientific publications.
Vice President of Strategy, Portfolio and Alliances; Head Idea lab: Working together: academy, health care and
of Respiratory and Inflammation; and Head of Pain industry [3.0.3]
Control. He was also responsible for Global Clinical
Development, and led initiatives to increase the quality
and speed of clinical development, while reducing cost, Anna-Sara Lind
improving productivity and cutting timelines.
BIO
Anders is CEO AstraZeneca Sweden AB, and non-
executive Director of the board of Albireo Ltd and Anna-Sara Lind, LL D, Senior Lecturer of Public Law at
Karolinska University Hospital, Sweden. He is an the Faculty of Law, Uppsala University. She defended her
Associate Professor of Physiology at the Karolinska doctoral thesis Sociala rttigheter i frndring (Social
Institute, a medical doctor board certified in Rights undergoing Changes) at Uppsala University in
Anesthesiology and Intensive Care, and a doctor of constitutional law in 2009. Since 2011 she is a senior
dental surgery. He has long been active in both basic and lecturer in public law at the Faculty of Law, Uppsala
clinical research resulting in over 60 original publications University.
in peer reviewed journals and book chapters.
Since 2011 she is also connected to the Centre for
Keynote address: Biobanks for drug development: Research Ethics & Bioethics, Uppsala University. Her
Future issues [1.0.2] & Idea lab: Working together: research focuses on fundamental rights in a national as
academy, health care and industry [3.0.3] well as in a European constitutional context and how
these fundamental rights are communicated between
these levels. Her current research projects deal with
integrity rights within the area of biobanking.
Angelo Paradiso
Educational session: Ethics and regulations [2.0.1]
BIO
Dr Angelo Paradiso is the Scientific Director of the
National Cancer Research Centre Istituto Tumori Anu Jalanko
Giovanni Paolo II in Bari, Italy, a Comprehensive
Cancer Centre equipped with all the facilities to perform BIO
genomic, proteomic, biological, genetic, bioinformatics
and clinical research. He has a degree in Medicine from Associate Professor Anu Jalanko is head of Public Health
the University of Bari, with specialisations in Medical Genomics Unit at the National Institute for Health and
Oncology and Pharmacology. His main scientific fields of Welfare (THL). The Unit is studying genetic and
interest are new predictive prognostic biomarkers, new molecular mechanisms behind several diseases and is
early diagnosis biomarkers, molecular targeting drugs, responsible for biobanking of DNA samples of the
and adjuvant therapy in breast, colorectal and pancreatic majority of Finnish population cohorts. Currently Anu
cancer. Jalanko is also acting as a Senior Researcher at the
Institute for Molecular Medicine Finland, FIMM. She
coordinates the BBMRI.fi network and leads the BBMRI
Bjrn Dahllf
project of the Academy of Finland / Ministry of Culture BIO
and Education. She is also acting as the Scientific expert
of Finnish ministries in preparation of BBMRI-ERIC. She Bjorn Dahllof is Global Head of Biobanking and Sample
has a long experience as a research director and director Management at Novartis Institute for Biomedical
of department at THL and two consecutive Centre of Research (Basel, Switzerland). Previously, he lead the
Excellence programmes of the Academy of Finland. She AstraZeneca global biobank of human samples and has
was coordinator of FP6 project NCL-MODELS and vice worked since 1992 in pharmaceutical industry in various
coordinator of Nordic Centre of Excellence in Disease roles within the fields of biobanking, translational
Genetics. The scientific career of Anu Jalanko consists research, biomarkers, proteomics, insulin
mainly of studies of molecular mechanisms behind resistance/diabetes/adipocyte biology and prostate
genetic diseases Aspartylglucosaminuria and Neuronal cancer. Prior to that he had a background in cell biology,
Ceroid Lipofuscinoses (NCL). biochemistry and genetics.
Welcome & introduction (Friday) Idea lab: Working together: academy, health care and
industry [3.0.3]
Bartha Maria Knoppers

Carl Borrebaeck
BIO
BIO
Bartha Maria Knoppers, PhD, holds the Canada Research
Chair in Law and Medicine (Tier 1: 2001 - ). She is Prof. Carl Borrebaeck is chairman of the Department of
Director of the Centre of Genomics and Policy, Faculty Immunotechnology, Lund University and program
of Medicine, Department of Human Genetics, McGill Director of the Strategic Center for Translational
University. In 2007, she founded the international Cancer Research CREATE Health
Population Project in Genomics and Society (P3G) and (www.createhealth.lth.se). He received the first chair as
CARTaGENE Quebecs population biobank (20,000 professor of Immunotechnology in Scandinavia 1989. His
indiv.). Former holder of the Chair dexcellence Pierre main research interests are cancer proteomics, for early
Fermat (France: 2006-2008), she was named detection and prognosis, and antibody engineering, for
Distinguished Visiting Scientist (Netherlands Genomics the generation of human therapeutic antibodies. He is a
Initiative) (2009 - 2012) and received the ACFAS prize permanent member of the Royal Swedish Academy of
for multidisciplinarity (2011). She is Chair of the Ethics Engineering Sciences and deputy vice chancellor of Lund
Working Party of the International Stem Cell Forum University, with a special responsibility for its innovation
(2006 - ), Co-Chair of the Sampling/ELSI Committee of system. He received the AKZO Nobel Science Award
the 1000 Genomes Project (2008 - ) and a member of 2009, for his contributions to cancer proteomics and
the Scientific Steering Committee of the International antibody-based therapy.
Cancer Genome Consortium (ICGC) (2009- ). She holds Prof. Borrebaeck spent a sabbatical year at the
four Doctorates Honoris Causa, is Fellow of the Oklahoma Medical Research Foundation 1996-97 and did
American Association for the Advancement of Science, his post-doctoral training at the University of California
of The Hastings Center (Bioethics) and of the Canadian in Davis. He received his Doctor of Science (D.Sc.) in
Academy of Health Sciences (CAHS) and Officer of the 1979. His research has resulted in several spin-out
Order of Canada. companies, such as BioInvent International, Alligator
Keynote address: Biobanks, Ethics and Trust: Future Bioscience, Immunovia and SenzaGen AB.
issues [1.0.4] & Idea lab: Navigating the ethical and legal Advanced molecular technologies for sample
framework [3.0.4] analysis Proteomics: Can protein signatures predict
cancer? [4.0.3]
Berge Solberg
BIO David Cox
Berge Solberg is a professor in medical ethics and head BIO
of the teaching in medical ethics in the medical school at David R. Cox, M.D., Ph.D., Senior Vice President and
the Norwegian University of Science and Technology CSO, Applied Quantitative Genotherapeutics, Pfizer Inc.
(NTNU). He has a particular interest in the ethics of
prenatal diagnosis, assisted reproduction, newborn Dr. Cox serves as Chief Scientific Officer for the Rinat/
medicine, genetic testing as well as the ethics of research Applied Quantitative Genotherapeutics Unit of Pfizers
biobanking. He is an editor of the Nordic journal of Worldwide Research & Development. This group
applied ethics. Since 2004 he has been a member of The integrates human biology, next- generation DNA
Norwegian Advisory Board on Biotechnology. He is also sequencing and quantitative mechanistic mathematical
a member of the ethics work package of Biobank modeling to define the biological basis of complex
Norway. disease and to enable patient stratification in clinical trial
design. Dr. Cox is a co-founder of Perlegen Sciences Inc.,
Idea lab: Navigating the ethical and legal framework and was Chief Scientific Officer of that company from
[3.0.4]
2000 until 2008. From 1993 to 2000 Dr. Cox was
Professor of Genetics and Pediatrics at the Stanford
Evert-Ben van Veen
University School of Medicine as well as the co-director BIO
of the Stanford Genome Center. From 1980 to 1993 Dr.
Cox was a faculty member at the University of Evert-Ben van Veen is legal counsel to, amongst others,
California, San Francisco. He obtained his A.B. and M.S. the Dutch Epidemiological Association, the FEDERA (the
degrees from Brown University in Rhode Island and his Federation of Dutch Medical Scientific Societies) and the
M.D. and Ph.D. degrees from the University of Centre for Public Screening of the Dutch National
Washington, Seattle. He completed a Pediatric Residency Institute for Public Health and the Environment. He
at the Yale-New Haven Hospital in New Haven, contributed, either as a partner or as a subcontractor, to
Connecticut and was a Fellow in both genetics and the European TubaFrost, VIRGIL, ESTRO- ENTB
pediatrics at the University of California, San Francisco. projects and at present to EUROCOURSE. Together
Dr. Cox is certified by the American Board of Pediatrics with the UK Health Protection Agency he has published
and the American Board of Medical Genetics. He has a report on a European system of reference laboratories,
been an active participant in the large scale mapping and commissioned by the European Commission (EURLOP).
sequencing efforts of the Human Genome Project while Evert-Ben van Veen aims to combine expert knowledge
carrying out research involving the molecular basis of of European privacy and health law with a hands on
human genetic disease. He has authored over 100 peer- approach. Involved in the daily practice of the legal and
reviewed scientific publications. Dr. Cox has been a ethical challenges of health care, and the ability to draft
member of numerous commissions and boards, including contracts which work for all parties concerned, there
the National Bioethics Advisory Commission (NBAC) has also been a steady flow of scientific publications. His
and the Health Sciences Policy Board of the Institute of expertise covers: European Privacy and health legislation,
Medicine. He presently serves as a member of the governance of research, data-sharing, and regulatory
Council of the Human Genome Organization (HUGO). issues (bio-)medical research.
Dr. Coxs honors include election to the Institute of Idea lab: Navigating the ethical and legal framework
Medicine of the National Academy of Sciences. [3.0.4]
Idea lab: The Value of Biobanking [3.0.2]
Gunnel Tybring
Eero Vuorio BIO
BIO Gunnel Tybring, PhD, serves a Senior Advisor at
Professor Eero Vuorio served as the Chancellor of the Karolinska Institutet Biobank and coordinates the
University of Turku in Finland in 2003-2009. In January regionally distributed biobank network within BBMRI.se.
2010 he was nominated for Director of Biocenter Gunnel Tybring received her PhD in clinical
Finland and moved to Helsinki. Eero Vuorio obtained his pharmacology at Karolinska Institutet in 1996. The
M.D. and a PhD in Medical Chemistry in the University postdoc-work was focused on drug metabolism and
of Turku and worked as a visiting scientist and professor pharmacogenetics as a major cause of interindividual
at the University of Chicago, the Swiss Federal Technical drug response. In 2000 she became associate professor
High School (ETH) in Zrich, and the University of (docent) in Clinical pharmacology at the department of
Texas M.D. Anderson Cancer Center in Houston. He Laboratory Medicine at Karolinska Institutet. Gunnel
was appointed Professor of Molecular Biology in 1989. Tybring led the startup and development of Karolinska
Institutet Biobank and has served as an expert in
Professor Vuorio has served six years as the chair of the Biobanking including ethical and legal policies at the
Research Council for Health (Academy of Finland) and as Swedish National Biobank Council as well as in several
the chair of the National Advisory Board for Research international biobank initiatives. Gunnel Tybring is
Ethics. In 2008-2011 he served as a part-time Executive involved in the National Unified Biobank Infrastructure
Manager of BBMRI, the pan-European research project formed in 2012 by the Swedish Research Council
infrastructure for biobanking and biomolecular (VR) and Swedish Association of Local Authorities and
resources. He currently chairs the European Molecular Regions (SKL) aiming at forming uniform guidelines for
Biology Laboratory (EMBL) Council. He has expert sample and data management.
duties at the European Commission, the European
Science Foundation (ESF) and UNESCO (International Educational session: Biobanking practice - How do I
Bioethics Committee) and the European Research get the best samples for my research? [2.0.2]
Council (ERC) as the chair of the Identification
Committee.
Where do we go from here? Gert-Jan van Ommen
BIO
Prof. dr. Gert-Jan B. van Ommen, PhD, is head of the
Department of Human Genetics of Leiden University
Medical Center (LUMC) and founder of the Leiden
Genome Technology Center (LGTC), a principal
genomics facility in the Netherlands. He is Director of
the Center for Medical Systems Biology, CMSB, one of extramural research programs, a Web-based
four Centers of Excellence established in 2003 by the biospecimen literature database, and community
Netherlands Genome Initiative aiming to improve outreach activities including the annual BRN Symposium,
diagnosis, therapy and prevention of common and rare Advancing Cancer Research Through Biospecimen
diseases, and board member of the Netherlands Medical Science. Dr. Moore is a Molecular Biologist with a
Genetics Centre (MGC), and the Center for Biomedical broad background in research and development. She
Genetics (CBG).Van Ommen has as major research came to the NCI in 2006 from Celera Genomics, where
interests in the development and application of genome she led and managed cross-functional teams to develop
research and diagnostic technology for disease study, bioinformatics products focused on Comparative
diagnosis, therapy and prevention, including the societal Genomics and data visualization; developed new drug
aspects of genetic advances. Members of his department targets for complex diseases using multiple approaches
have contributed to the finding of the gene defects and including genetic analysis of disease association study
disease mechanisms underlying Duchenne Muscular data, biological pathways analysis, literature mining, and
Dystrophy, Huntington Disease, Polycystic Kidney genomic analysis; and contributed to the assembly and
Disease, FacioScapulohumeral Muscular Dystrophy, annotation of the human genome. Dr. Moores research
Hereditary Neuropathies, Fragile X Syndrome, experience includes work on human genomics and
Rubinstein-Taybi Syndrome, Familial Hemiplegic Migraine bioinformatics, fruit fly signaling, plant molecular biology,
and Episodic Ataxia. His group has pioneered the Alzheimer's disease, and synthetic skin. Dr. Moore
diagnosis of genetic disease, performing the first prenatal earned her doctorate at Cornell University and her B.A.
diagnosis using DNA markers of a disease (DMD) of at Wellesley College. Dr. Moore co-chairs the NIH
which the gene was (then) still unknown, developed Biospecimens Interest Group, is a member of the
many gene mapping techniques, generating the first International Society for Biological and Environmental
megabase map of a human gene (DMD), and developed Repositories (ISBER), and is the Biospecimen Science
several innovative mutation detection techniques. As of section editor for the journal Biopreservation and
1998, his group has been pioneering the exon-skipping Biobanking. Dr. Moore gives numerous invited
approach for therapy of Duchenne Muscular Dystrophy. presentations about the BRN and OBBR across the U.S.
After preclinical research in patient cells and mice, this and internationally.
approach is now the potential DMD therapy closest to
market. In collaboration with the Leiden biotech Keynote address: Biobanks for clinical practice: Future
company Prosensa, in 2007 the first-in-man proof-of- issues [1.0.1]
concept study was performed and in 2009 Prosensa
completed the first successful phase I/II systemic trial.
Further exon skip developments are undertaken for HD, Helena Kriinen
CADASIL, LGMD (dysferlin) and rheumatoid arthritis.
Van Ommen is a founding member of BBMRI BIO
(Biobanking and Biomolecular Research Infrastructure, Professor Helena Kriinen (MD, PhD, Research
the European ESFRI biobanking infrastructure established Professor at National Institute for Health and Welfare,
in 2007), connecting 50 partners and 200 associated Finland) is a specialist in medical genetics. She has done
partners in 33 European countries; founder and the main part of her work in The Family Federation of
coordinator of the national Dutch biobank infrastructure Finland which is a non-profit organisation providing
BBMRI-NL, established in 2009, and board member counselling, education and information in medical
(treasurer) of the Public Population Project in Genomics genetics. During 2003 to 2007 she was Professor of
(P3G), the global biobanking organization, and Medical Genetics, University of Turku, Finland. In 2007
participates in several EU FP7 projects, including she started as a research professor at National Public
ENGAGE, analyzing GWA studies of ca. 90.000 samples Health Institute in Helsinki, which in 2009 fused to a new
across Europe. He is Editor-in-chief of the European National Institute for Health and Welfare. In this
Journal of Human Genetics, past president of HUGO institute she has several roles including oversight of the
and of the European and Dutch Societies of Human biobank samples and involvement in national plan for
Genetics. He is a member of several National, EU and rare diseases.
HUGO committees in the fields of Genetics, Innovative
Health Care, Genomics, Bioinformatics, Biobanking, She has been a board/executive board member of the
Ethics and IP issues. European Society of Human Genetics (ESHG) since
2001, and has also served as Secretary General of ESHG
Idea lab: Working together: academy, health care and and member of the Public and Professional Policy
industry [3.0.3] & Where do we go from here? Committee (PPPC) for several years. She was a WP
leader in EuroGentest NoE; in this project her main task
was to create guidelines and tools for improving the
Helen Moore quality of genetic counselling in Europe. This work
continues in EuGT2. She is the Finnish representative in
BIO EUCERD Committee and also a member of EPPOSI
Dr. Helen Moore directs the National Cancer Institute Board. Her research interests are rare diseases, genetic
(NCI) Biospecimen Research Network (BRN) which is testing and counselling.
part of the Office of Biorepositories and Biospecimen Idea lab: The Value of Biobanking [3.0.2]
Research (OBBR). Under her leadership, the BRN has
grown from concept stage to an internationally known,
multidimensional program. The BRN encompasses
Henrik Grnberg Isabel Fortier
BIO BIO
Henrik Grnberg is Professor of Cancer Epidemiology Research Institute of the McGill University Health
and Chair of the Department of Medical Epidemiology Center and Public Population Project in Genomics,
and Biostatistics at Karolinska Institutet in Stockholm. Montreal, Canada.
The majority of his research projects are focused on the
genetic epidemiology of prostate cancer. The Dr Isabel Fortier is researcher at the Research Institute
overarching aim of the studies is to identify genes and of the McGill University Health Centre, where she leads
genetic variation that are important for prostate cancer the Maelstrom-Research and DataSHaPER Programs.
risk and eventually progression of prostate cancer and to These programs aim to develop and provide the
assess the importance and possible use of these genetic research community from diverse disciplines with
markers in the general population. More specifically, the resources (expertise, methods and software) to leverage
research is focused on the following areas: 1) and support (1) data harmonization and integration
identification and confirmation of new genetic variants across studies and (2) implementation of individual study
that explain the genetic susceptibility of prostate cancer infrastructures. In addition, she serves as coordinator of
through different approaches 2) assessment of gene-gene data harmonization for the BioSHaRE (Biobank
interactions in pathways that are important in prostate Standardisation and Harmonisation for Research
cancer development and 3) identification of independent Excellence in the European Union) project. This large
genetic markers and lifestyle factors for prostate cancer scale program aims to ensure the development of
progression and death. harmonized measures and computing infrastructures
enabling the effective pooling of data across large
Henrik Grnberg is also scientific coordinator and PI of European cohorts studies including UK Biobank,
the Linnaeus Centre Predication and prevention of Lifelines, Kora-Gen, Nord-Trndelag Health Study,
breast cancer and prostate cancer which was awarded a LifeGene, Estonian Genome Center, National Child
10 year grant of 9,5 MSEK/years in 2008 from The Development Study, and National FINRISK Study. Dr
Swedish Research Council. Fortier also led the construction of the P3G (Public
Population Project in Genomics) Observatory, a central
Keynote address: Biobanks for Health Economy: internet repository of scientific information and tools.
Future issues [1.0.3] & Idea lab: The Value of Finally, at the Canadian level, Dr Fortier has been
Biobanking [3.0.2] involved in the development and harmonization of a
number of cohorts including the Canadian Longitudinal
Study on Aging (50 000 participants), CARTaGENE
Isabelle Budin-Ljsne (20 000 participants) and Canadian Partnership for
Tomorrow Project (300 000 participants).
BIO
Idea lab: Gaining knowledge from samples and data
Isabelle holds a Masters degree in research ethics from [3.0.1]
Keele University, UK, and a degree in Political Science
from Institut dEtudes Politiques in France. She joined
the Norwegian Institute of Public Health in 2008 after
several years at the Section of Medical Ethics of the Ivo Gut
University of Oslo where she worked on biobank- BIO
related research projects and was part of the team
coordinating Norwegian Clinical Ethics Committees. Ivo Gut is qualified in Chemistry at the University of
Since 2008, shes been involved in the Ethics work Basel and obtained a PhD in Physical Chemistry from the
package and Training & dissemination work package of same University with Prof. Jakob Wirz in 1990. He was a
the EU-funded project ENGAGE (European Network for Research Fellow in the group of Prof. Irene Kochevar at
Genetic and Genomic Epidemiology, Harvard Medical School (1990-1993), and in the
www.euengage.org). More recently, she joined the Ethics laboratory of Dr. Stephan Beck Imperial Cancer
work package of the biobank consortium BioSHaRE-EU Research Foundation of London (1993 to 1996).
(www.bioshare.eu) and of the Norwegian Biobank
infrastructure Biobank Norway. Her research interests He led a group in the Department for Vertebrate
include the development of informed consent tools, the Genomics of Prof. Hans Lehrach.Later at the Max-
investigation of issues related to feedback of results to Planck-Institute for Molecular Genetics (1996-1999), and
research participants and international data sharing. during 11 years before joining the CNAG (2010), he was
at the Centre National de Gnotypage (CEA) first as a
Educational session: Ethics and regulations [2.0.1] Head of Technology Development and later as an
Associate Director.
His research interests are genomics, genetics, high-
throughput nucleic acid analysis methods, proteomics,
implementation of omics methods, automation and data
analysis.
Ivo Gut is author of more than 140 research papers,
inventor of 24 patents or patent applications, founder of
4 biotech companies (Genom Analytik GmbH, Biopsytec
GmbH and Epigenomics AG, Integragen SA), and
Jennifer Harris
Coordinator of the 12M EU FP7-funded Integrated BIO
Project READNA on DNA sequencing technology.
Dr. Jennifer Harris is a Senior Researcher at the
Advanced molecular technologies for sample Norwegian Institute of Public Health in Oslo Norway
analysis Genomics: High-resolution genome analysis where she leads the program in genetic epidemiology.
using legacy samples [4.0.2] She has interdisciplinary training in life-span
development, genetics, behavior and epidemiology and
was awarded a post-doctoral research fellowship at the
Karolinska Institutet in Stockholm through the John D.
Jane Reichel and Catherine T. MacArthur Foundation as part of the
BIO Research Network on Successful Aging. Since 2000 she
has also been a consultant at the NIH, to the National
Jane Reichel received her degree in law 1997 at Institute on Aging, Division of Behavioral and Social
Stockholm University. She worked as a clerk at the Research where she advises on the development of
Administrative Court in Stockholm 1998-2001. Jane research agendas that integrate genetics/genomics with a
defended her doctorial thesis at Stockholm University in broad behavioral and social science portfolio. Dr. Harris
2006, on European administrative law. In 2006 she has been highly active in several international projects on
worked as a project manager at the Swedish Agency for the harmonization of large-scale biobanks in
Public Management. In 2009 she was appointed associate epidemiology. She led the European Union project
professor in public law. Since 2011 she is a senior Promoting Harmonization of Epidemiological Biobanks in
lecturer in administrative law at the Faculty of Law, Europe (PHOEBE) and currently leads the Norwegian
Uppsala University. Since 2011 she is also connected to research participation in the European Network of
the Centre for Research Ethics & Bioethics, Uppsala Genetic and Genomic Epidemiology (ENGAGE), and in
University. Her current research focuses on processes Biobank Standardisation and Harmonisation for Research
of globalization of administrative law, especially within Excellence in the European Union (BioSHaRE-EU). She
the area of biobanking. was also a partner in the Genome-wide Analyses of
Educational session: Ethics and regulations [2.0.1] European Twin Cohorts to Identify Genes in Common
Diseases (GenomEUtwin) and she also leads the ethics
core the Biobank Norway infrastructure project.
Jan-Eric Litton Dr. Harris founded the population-based twin panel

study at the Norwegian Institute of Public Health under
BIO her interests to integrate developmental approaches
with genetic research into complex phenotypes. She
Jan-Eric Litton is Professor of Biomedical Computing developed the data as a national research resource that
Technology at the Karolinska Institutet, Stockholm, have become an integral part of the National Twin
Sweden. Litton is Executive Director and head of one of Register. Her current twin research uses the discordant
the largest medical infrastructure in Sweden BBMRI.se twin design to study epigenetic influences on
(The Biobanking and Molecular Resource Infrastructure autoimmune disorders. She is also studying genetic and
of Sweden), www.bbmri.se. He also coordinates the environmental influences on sex-differences in body
Nordic BBMRI (Denmark, Sweden, Norway, Finland, composition and is working in Nordic-wide twin study
Island, Faroe Island and Estonia). collaboration on cancer (NorTwinCan). She has broad
Jan-Eric Litton is renowned for his expertise in biobank commitment to the wider scientific community and
informatics and leadership in large-scale projects. He is serves on several expert panels, boards, steering groups,
also heading the development of e-epidemiology by using scientific advisory committees and editorial boards.
Internet, cell-phones, digital paper and digital TV for
Educational session: Ethics and regulations [2.0.1] &
collecting epidemiology data. From summit to action (follow up from pre-conference)
Jan-Eric Litton is involved in 6 large EU project in [6.0.1]
medicine and infrastructure at present, including the:
BiobankCloud Scalable, Secure Storage of Biobank
Data, which will start 1 November 2012.
Joakim Dillner
Jan-Eric Litton has also made major contributions to the
BIO
current knowledge in Positron Emission Tomography
(PET) and was one of the first researchers showing Joakim Dillner was born in Stockholm in 1962. He
receptor binding with PET technique. Litton has been earned his MD at Karolinska Institutet and earned his
giving more than 25 invited keynote lecture last six PhD in tumor virology in 1986, also at Karolinska
years. Institutet. From 1986-1988 he was post doc at Scripps
Institute in LaJolla, California. 1988-2000 he was
Welcome & introduction (Thursday)
researcher at Karolinska Institutet, from 1990 associate
professor in virology.
2001 Dillner moved to Lund University where he
became professor in virology, in particular molecular
epidemiology. His research has focused on biobanking,
cancer screening and tumor virology, especially human Advanced molecular technologies for sample
papillomavirus (HPV). analysis Proteomics: Affinity proteomics to profile
plasma disease and ageing [4.0.5]
2001-2005 Dillner led an EU Network of Excellence on
tumor virology, and in 2006 he became responsible for
WHOs Global Laboratory Initiative for HPV. 2002-2007
he was coordinator the the Swedish National Biobank Kristian Hveem
Program (a common biobank program for the medical
faculties in Sweden, financed by the Knut and Alice BIO
Wallenberg foundation by way of WCN and Swegene) Kristian Hveem (MD, PhD) is a Professor in Clinical
and 2004-2009 he led an EU Network of Excellence on Epidemiology, at the Faculty of Medicine, the Norwegian
biobanks. 2008-2010 he was a member of the Swedish University of Science and Technology (NTNU) as well as
Research Councils committee for biobank a Specialist in Internal Medicine and Gastroenterology.
infrastructure, BISC. He is the Director of HUNT Biobank, NTNU and the
Dillner was appointed professor in infectious disease National CONOR (Cohorts of Norway) biobank. Since
epidemiology at Karolinska Institutet March 1, 2009. He 2011, he has been the leader of the Norwegian Biobank
was principal applicant for the application for funding of Infrastructure, Biobank Norway (BBMRI.no), comprising
BBMRI.se to the Swedish Research Council in April all major population based and clinical biobanks in
2009. Joakim Dillner is deputy director of BBMRI.se. Norway.
Idea lab: The Value of Biobanking [3.0.2] From 2010, he has been instrumental in the
establishment of the newly opened Danish National
Biobank at Statens Serum Institute, Copenhagen,
Denmark, and holds the position as its first Director. He
Joanna Stjernschantz Forsberg has served as a member of the Biobank Infrastructure
Committee (BISC) of the Swedish Research Council
BIO (2008-09) and lead the work on a national report on
Joanna Stjernschantz Forsberg studied medicine at Potential for Commercial use of population based
Uppsala University and received her degree in medicine biobank (2009), initiated by the Research Council of
1998. She did her internship in Vrmland and received a Norway and the Ministry of Health. His major research
license to practice medicine in 2002. She has also studied interest is clinical and genetic epidemiology focusing on
philosophy and statistics at Uppsala University. Joanna is cancer, cardiovascular disease, diabetes and other
a PhD student at the Centre for Research Ethics & metabolic syndrome related traits. Kristian Hveem is a
Bioethics since 2007. Her PhD project concerns ethical member of the Scientific Advisory Board of BBMRI.se
aspects of biobank research, and mainly focuses on the and the P3G International Steering Committee.
issues of informed consent and returning results. She is Idea labs: Gaining knowledge from samples and data
particularly interested in the relationship between [3.0.1] & Working together: academy, healthcare and
individuals and society in the context of healthcare and industry [3.0.3] & Pricing models for biobanking:
medical research. Joanna will defend her doctoral thesis How to ensure economic sustainability in a publicly
in October. funded biobank? [5.0.3]
Idea lab: Navigating the ethical and legal framework:
[3.0.4]
Mats Hansson
BIO
Jochen Schwenk
Mats Hansson is Professor of Biomedical Ethics and
BIO Director of The Centre for Research Ethics & Bioethics
Jochen M. Schwenk is Associate Professor (Docent) in at Uppsala University. He works half time at Uppsala
Translational Proteomics at Biobank Profiling at the KTH University Hospital with ethical rounds and clinical ethics
- Royal Institute of Technology in Stockholm, Sweden. projects. In the area of biobanking and registry research
He is a Group Leader within the Human Protein Atlas Dr Hansson has been working with European networks
and manages the Biobank Profiling facility at the Science in Cancer, Rheumatoid Arthritis and Rare Diseases. List
for Life Laboratory. He studied Biochemistry at the of publications are available at www.crb.uu.se.
University of Tuebingen, Germany, receiving his PhD in Idea lab: Navigating the ethical and legal framework
2005 for his work with Dr. Thomas Joos (NMI). He then [3.0.4]
joined Prof. Mathias Uhln and the Human Protein Atlas
for his postdoctoral work, funded by the Wallenberg
Foundation and F.Hoffmann-La Roche. In 2009, Dr.
Schwenk was nominated as KTH star for the WCN
symposium on Frontiers in The New Biology KTH.
Today his group is working on high-throughput and
multiplexed methods for protein profiling body fluids
Human Protein Atlas antibodies.
Pricing Models for biobanking: Insights from KI
Mathias Uhln Biobank and BBMRI.se [5.0.2]
BIO
Dr Uhlen received his PhD in chemistry at the Royal Markus Perola
Institute of Technology (KTH), Stockholm, Sweden.
After a post-doc period at the EMBL in Heidelberg, BIO
Germany, he became professor in microbiology at KTH
in 1998. Dr Uhlen has more than 350 publications in Dr. Perola is leading the Quantitative Genetics-group in
bioscience with the focus on the development and use of the Public Health Genomics Unit, at the National
affinity reagents in biotechnology and biomedicine. Institute of Health and Welfare, Finland and a visiting
professor in University of Tartu, Estonian Genome
In the eighties, he was the first to describe the use of Project, Estonia. His studies have been focusing on the
affinity tags for purification of proteins, a principle now genetics of common disorders and traits. Several
widely used in bioscience. In the 90:ies, his group research strategies, such as genome-wide association
described a new strategy for DNA analysis called studies, linkage mapping in families and high density SNP
Pyrosequencing, a method that was further developed by maps and deep sequencing in population-based samples
a US company (454/Roche) into the first of a new are applied to find genetic components of complex traits.
generation of next generation sequencing methods. His Dr. Perola is participating and an active member in
group also developed a new affinity reagent called several large international genetic consortium studies
Affibodies, based on combinatorial principles and, in such as BioShare, BBMRI, ENGAGE, GenomEUtwin,
addition, developed alkali-stable variations of protein A, GEHA and MORGAM and is the coordinator for an
now commercially available for purification of antibodies upcoming FP7 biobanking infrastructure project BBMRI-
(MabSelectSure). In the early 2000, his group started an LPC. He has initiated and run for a long time the
international effort, with groups in Sweden, India, China KTL/THL DNA repository. Dr. Perola is also a section
and South Korea, for the creation of a Human Protein editor for the European Journal of Human Genetics and
Atlas (www.proteinatlas.org) with the aim to an active organizer and lecturer for several international
systematically map the human proteome with antibodies. courses concentrating on the analyses of genetic data.
He is a member of the coordinating ethical board of the
Dr Uhlen is member of the Royal Swedish Academy of Helsinki University hospital. His publication list includes
Engineering Science (IVA), the Royal Swedish Academy over 160 original articles in leading genetic and
of Science (KVA), the European Molecular Biology cardiovascular journals. Dr. Perola is also a practicing
Organization (EMBO) and member of the Human physician in Helsinki Western Emergency Hospital,
Proteome Organization (HUPO) council. He was Vice- Helsinki, Finland.
President of the Royal Institute of Technology (KTH),
responsible for external relations, from 1999 to 2001. Idea lab: Gaining knowledge from samples and data
Recently (2010), he became the Director of a new [3.0.1]
center Science for Life Laboratory Stockholm for high-
throughput bioscience (www.scilifelab.org).
He has received numerous awards, including the Gran Mika Ala-Korpela
Gustavsson prize, the Gold Medal of the Royal Swedish
Academy of Engineering Sciences, the Akzo Noble BIO
Award, the HUPO Distinguished Award, the KTH Great Dr Mika Ala-Korpela is a Professor of Computational
Prize, the ABRF award, the Scheele prize and the H.M. Medicine at the Institute of Clinical Medicine, University
the Kings Medal with the ribbon of the Order of of Oulu, Finland. His research focuses on lipoprotein
Seraphim. biophysics and metabolism, development and
Idea lab: Gaining knowledge from samples and data applications of multi-parametric data analysis methods
[3.0.1] for metabolic phenotyping and risk assessment, and the
use of various omics technologies, particularly high-
throughput serum NMR metabolomics, in clinical and
epidemiological studies of metabolic disorders. He has
Mark Divers published over 100 articles in international peer-
reviewed journals. Professor Ala-Korpela has more than
BIO two decades of experience in biomedical NMR
Mark Divers is director of Karolinska Institutet Biobank. spectroscopy and has pioneered high-throughput
He has a PhD in the genetics of antibiotic resistance, and applications of NMR-based metabolomics in molecular
as postdoc researched molecular biology of antibiotic epidemiology and functional genetics. Under his lead
production. Before coming to KI he had a long career in Computational Medicine was selected as one of the
building R&D infrastructure, with 26 years in the strategic scientific areas for development and funding at
pharmaceutical industry (3 different companies and the University of Oulu for 2012-2016. During the last 8
countries). Most notably he founded the Astra High years Professor Ala-Korpela's team has focused on
Throughput Screening Centre and compound collection developing an NMR-based metabolomics platform for
for drug discovery. He has also worked with process human serum. This novel methodology has now been
R&D and phase II clinical development. In addition to his used to analyse over 90,000 serum samples (in +3 years).
current role at KI he also leads the development of the The methodology provides information on >100 primary
physical biobank facilities of BBMRI.se. metabolic measures and >100 derived variables with
clear biochemical interpretation and significance. This Biotechnology group at Turku, Finland together with the
platform has recently been applied in various large-scale VTT Technical research Centre and University of Turku
epidemiological and genetic studies the results of which in 2002-2008.
have been published in the leading scientific journals.
Olli Kallioniemi is an author of 293 publications, a
Advanced molecular technologies for sample member of the editorial board of six journals and invited
analysis Metabolomics: High-Throughput Serum lecturer in over 90 meetings during the past 4 years.
NMR Metabolomics Epidemiology in the Biobanking Inventor and co-inventor of 20 issued patents, with a
Era [4.0.6] focus on diagnostic technology development, such as
FISH and Comparative Genomic Hybridization, tissue
microarrays, cell-based RNAi microarrays and
bioinformatics. Prof. Kallioniemis group is currently
Mike Taussig active in individualized systems medicine of cancer, with
BIO a special focus on translational research to improve
diagnostics and therapy of leukemia.
Mike Taussig is Head of the Protein Technology Group
at Babraham Bioscience Technologies, Cambridge, and a Prof. Kallioniemi is a recipient of multiple awards, such
Fellow of Selwyn College, Cambridge University. His as the Anders Jahre Prize, NIH Directors lecture,
research experience and interests include structure and Harold G. Pritzker Memorial Lecture (Toronto), AACR
genetics of antibodies, protein display libraries and team science award and the IFCC-Abbot Award for
selection, protein array design, cell free protein Molecular Diagnostics in 2009. Olli Kallioniemi is EMBO
expression systems and X-ray crystallography. He is member and member of the National Academy of
noted as co-inventor of ribosome display technology for Sciences (Finland).
selection of binding proteins, and protein array methods, Advanced molecular technologies for sample
where he has developed systems for producing protein analysis Genomics: Biobanking facilitates systems
arrays in situ from DNA. He recently established a medicine research of acute myeloid leukemia (AML) and
startup company, Cambridge Protein Arrays Ltd., to rapid translation in optimizing clinical treatments of
develop his groups technologies in that area individual patients [4.0.1]
(www.cambridgeproteinarrays.com). He is a board
member of the European Federation of Biotechnology
(EFB) and Editor in Chief of the EFB journal New
Biotechnology (Elsevier). He has managed several large Patrik Magnusson
scale European networking and research projects. He
was the coordinator of ProteomeBinders (2006-2010), BIO
an EU FP6 research infrastructure action aiming to Patrik Magnusson is Deputy Director and Head of
establish a European resource of affinity binding reagents intramural research and development (forskningschef) of
for detection of the human proteome, and currently in the Swedish Twin Register, Karolinska Institutet. Patrik is
FP7 he coordinates the AFFINOMICS project, which is a biologist and he got his doctor's degree in medical
putting proteome scale production of antibodies and genetics. His research interest covers today several
other binders into practice. He was also joint aspects of biological and particular genetic factors
coordinator with Ulf Landegren of WP4 of the EU underlying complex traits. In close collaboration with KI
Biobanking and Biomolecular Resources Infrastructure Biobank he has during the past 7 years worked on
(BBMRI) with responsibility for protein and antibody building up a Swedish twin biobank which now contains
resources in Europe. He has organised a number of samples from more than 40000 individuals
conferences, including the ongoing series of Alpbach
workshops on Affinity Proteomics. Educational session: Biobanking practice - How do I
get the best samples for my research? [2.0.2]
Idea lab: Gaining knowledge from samples and data
[3.0.1]
Paul Downey
Olli Kallioniemi BIO
BIO Paul Downey is the Director of Operations at UK

Biobank.
Olli Kallioniemi, M.D., Ph.D. is Professor and Director of
FIMM the Institute for Molecular Medicine Finland, an Pricing Models for biobanking: UK Biobank
international research institution at the University of experiences [5.0.1 n no abstract]
Helsinki formed in partnership with the European
Molecular Biology Laboratory (EMBL).
Olli Kallioniemi received his M.D. in 1984, Ph.D. in 1988
and residency in laboratory medicine at the University of
Tampere in Finland. He undertook a postdoc at UC San
Francisco in 1990-1992 and was appointed faculty at the
National Human Genome Research Institute, at the NIH
(1995-2002). He founded and developed the Medical
Peter James Stephen Birch
BIO BIO
Peter James graduated from Oxford University and Stephen Birch is a professor in the Department of
completed his PhD at the ETH in Zurich in 1990. After a Clinical Epidemiology and Biostatistics and a member of
two year post-doc in USCF, San Francisco and in CHEPA at McMaster University. He is a previous
ThermoFinnigan, San Jose he returned to the ETH. He recipient of the Faculty of Health Sciences Rose Levy
moved to take the chair in Proteomics at Lund Rosenstadt Award and a research scholarship award
University in 2001. He is a member of Founding Board of under Health Canada's National Health Research and
the Human Proteome Organisation, HUPO and is Development Program. He received his doctorate in
chairman of the European proteomics association economics at the University of York in the United
education committee and is on the editorial Boards of Kingdom. He has over 200 publications in peer reviewed
the four leading Proteomics journals. Dr. James is scientific journals. In the 2011 World Bank rankings of
currently Professor of Protein Technology at Lund health economics researchers, he was ranked equal 1st
University and SWEGENE Director of Proteomics. He in Canada and equal 35th in the world based on the
has published over 150 peer reviewed articles and volume and impact of his publications. His main research
reviews in the field of protein chemistry and proteomics interests are in methods for economic evaluation of
and holds 7 patents in proteomics methodologies. His health interventions, equity in health care resource
research field is protein analysis with a focus on protein- allocation and needs-based approaches to health service
protein interaction, membrane proteins and methods and health workforce planning. He served as senior
development for clinical proteomics. The main focus editor for Social Science and Medicine for 15 years and is
currently is on diagnosis and therapy outcome prediction former board member of the Hamilton Niagara
for breast cancer and on defining plasma membrane Haldimand Brant Local Health Integration Network and
protein targets for directed antibody therapy. the Ontario Health Professions Regulatory Advisory
Council. He also holds academic appointments in the
Advanced molecular technologies for sample Institute for Population Health at the University of
analysis Proteomics: A critical view of proteomics Manchester, U.K., the Centre for Health Economics
for clinical discovery: from shotgun to targeted analyses Research and Evaluation at the University of Technology
[4.0.4] Sydney, Australia and the School of Public Health,
University of Cape Town, South Africa.
Idea lab: The Value of Biobanking [3.0.2]
Pivi Laiho
BIO
Pivi Laiho, PhD, is a Head of laboratory in Meilahti Thomas Moritz
Integrated Biobank Infrastructure (MIBI), a joint biobank BIO
laboratory of Institute for Molecular Medicine Finland
(FIMM), and National Institute for Health and Welfare After studying biology and chemistry at Ume University,
(THL). Dr. Laiho graduated in genetics from University Thomas started his PhD-education at SLU working on
of Helsinki in 2002 and got PhD in 2005. Her thesis identification of biological active plant hormones and
work focused on molecular mechanisms underlying their role in plants. After graduation, he in 1991 made a
colorectal cancer. Since 2006 she has been running the postdoc at Long Ashton Research Station, Bristol, UK,
sample management laboratory of former National studying plant hormone chemistry, and thereafter he
Public Health Institute (KTL), and recently been came back to Ume and started his own research group,
developing the joint biobank infrastructure (MIBI) of then with the focus on method development of plant
FIMM and THL. Dr. Laiho has also participated in various hormone analysis. Beginning of year 2000, Thomas
BBMRI-related projects, especially in building up the changed his research direction partly to metabolomics
national biobank network BBMRI.fi in Finland. Today and has the last ten years mainly focused method
MIBI stores samples from nearly 200 000 subjects, and development and application of metabolomics, not only
the infrastructure provides several capabilities for sample in plant biology but also other disciplines such as
processing and analysis by state-of-the-art technologies. medicine. Since 2002 he has been director of the
metabolomics platform in Ume and has recently
Educational session: Biobanking practice - How do I together with researchers at Ume University and
get the best samples for my research? [2.0.2] Chalmers Technical University received a grant from
KAW, resulting that Jan-2013 he will be director of a
new National Metabolomics Platform in Ume. Thomas
became Professor 2006 and is since 2007 Chair of the
SLU department of Ume Plant Science Centre.
Educational session: Sample and data analysis
Metabolomics [2.0.5]
Ulf Gyllensten Ulf Landegren
BIO BIO
Ph.D. University of Stockholm, Postdoctoral Fellow UC Ulf Landegren received his MD and PhD in Uppsala,
Berkeley, Associate Scientist at Cetus Coporation, Sweden, before working at Caltech for five years. He is
Assistant Prof. Department of Medical Genetics, Prof. in now professor of molecular medicine in Uppsala, where
Medical Molecular Genetics, University of Uppsala from his research is focused on developing and applying
1993. advanced molecular tools for analyzing macromolecules
and their functions. Examples of techniques from his lab
Director of the Swedish Programme in Genome include the oligonucleotide ligation assay (OLA) and
Research (SSF) (1998-2005). padlock probes for measuring and distinguishing specific
Director of Uppsala Genome Center (UGC) (1998-). DNA and RNA sequences, and proximity ligation for
highly sensitive detection of proteins or visualizing
Director of the Swedish Learning Lab (1999-2005). interacting molecules.
Coordinator of the European Network for Lupus Professor Landegren is a member of EMBO, the Royal
Genetics (EU funded project). Swedish Academy of Sciences and the Scientific Advisory
Director of Uppsala Center for Metagenomic Analyses Committee for European Academies. He has authored
(2006-2009) 170 peer-reviewed publications, and is inventor of 33
patents or applications. Six technologies have been
Director of the National Infrastructure for Large-Scale licensed to leading biotech companies, and his lab has
DNA Sequencing SNISS (2010-) spun out five biotech companies.
Director for the Genomics Platform at Science for Life Educational session: Sample and data analysis
Laboratory Uppsala (SciLifeLab) (2010- ). Director of the Proteomics [2.0.3]
Rudbeck Laboratory (2010-2012)
Board member and cofounder of Dechipher Genetics
AB and Quantovir AB. Consultant for Perkin-Elmer AB
and Roche Molecular Systems.
Research interests in the epidemiology and genetics of
cervical cancer genetic basis for quantitative clinical
traits. Published over 200 papers in peer-reviewed
journals.
Educational session: Sample and data analysis -
Genomics/Transcriptomics [2.0.4]
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KEYNOTE PRESENTATIONS
1.0.1 Keynote presentation 1.0.3 Keynote presentation
Biobanks for clinical practice: Biobanks for Health Economy:

Future issues Future issues
Helen Moore (NIH/NCI, USA) Henrik Grnberg (Karolinska Institutet, Sweden)
ABSTRACT ABSTRACT
Biospecimens and biobanks are fundamental elements Prostate cancer: Biobank-based research that can change
needed for the success of personalized or stratified clinical practice and healthcare strategies.
molecular medicine. Biospecimens are the starting Prostate cancer will be used a test example how modern
materials for basic research into human disease, biobank-based research can be used to change
biomarker discovery, validation of biomarkers, healthcare strategies in the diagnosis and treatment of
development of clinical tests for biomarkers, validation prostate cancer. The value of older (10-20 years)
and regulatory approval of clinical tests, and ongoing biobanks and more recently collected biobanks will be
validation and improvement of tests. The opportunities highlighted. Several examples on new how new and
and challenges for the biobanking community with emerging technologies in genomics and proteomic will
respect to molecular medicine will be outlined in this increase the potential in biobank-based research will be
presentation. Issues addressed will include ethical, legal, given.
and social challenges; building the scientific evidence base
for proper biospecimen collection, processing, and
storage procedures; harmonization of biospecimen
1.0.4 Keynote presentation
practices; collection and storage of clinical data
associated with biospecimens; access policies for long- Biobanks ethics and trust: Future
term use of biospecimens and associated data; and
assessing and assuring biospecimen quality.
issues
Bartha Maria Knoppers (McGill University, Canada)
ABSTRACT
1.0.2 Keynote presentation
The philosophy underlying biobanks (whether
Biobanks for drug development: populational, clinical or residual) is to provide a resource
Future issues for research. However, persons contributing to such
resources may be acting as citizens, or as patients in
Anders Ekblom (AstraZeneca, Sweden)
clinical trials, or, considered to have abandoned their
ABSTRACT leftover tissues following medical care. Thus, present and
future trust issues fall along this spectrum of biobanking
There are increased challenges for the activities. Initial consent, however obtained and however
Biopharmaceutical industry to find more efficient and broad or specific or presumed, matters little in the
safe medicines, while decreasing drug development time absence of public trust and if such infrastructures cannot
and cost. Biobanking and how to access the right Human ensure the quality and integrity of both those maintaining
Biological Samples that are linked to the right clinical the biobank and of those accessing and using samples
information are therefore important topics as key and data. To that end, funding for sustainability is
enablers. New innovative initiatives and closer primordial. Ongoing oversight and communication
collaboration between academia, health care and pharma strategies are the sine qua non foundations for trust but
have been initiated to optimize the use of high sensitive, do not come without a price. In a sense, the future of
high-throughput methods for biomarker discovery. biobanks is in the same state as ethics committees were
Harmonization of biobanking procedures, sharing of a decade ago before their systemic institutionalization
biospecimen and defining patient characteristics are and integration into health care systems and research
hurdles that are essential to be solved to maximize the funding mechanisms. There are also other pressing
use of the samples and bring most value back to patients future issues that threaten the viability of biobanks built
as new medicines. as they were on a public goods philosophy - a social
contract of public trust and participation for better
science and medical treatment for future generations.
This keynote lecture will give a short update on AZ This presentation will explore the tensions (?) between
Global Biobank and how to ensure ethical and legal that populational solidarity and the ideal of personalized
compliance within big pharma. It will also cover current medicine in the context of biobanking.
challenges Pharma is facing and examples on how to
maximize the use of biospecimen and future challenges.
EDUCATIONAL SESSIONS
2.0.1 Educational session: Ethics & regulation 2.0.2 Educational session: Biobanking practice
Ethics and regulation Biobanking practice: How do I get
Anna-Sara Lind (Uppsala University, Sweden) the best samples for my
Isabelle Budin-Ljsne (Department of Genes and research?
Environment, Norway)
Gunnel Tybring (Karolinska Institutet, Sweden)
Jane Reichel (Uppsala University, Sweden)
Patrik Magnusson (Karolinska Institutet, Sweden)
Jennifer Harris (The Norwegian Institute of Public Health,
Pivi Laiho (THL & FIMM, Finland)
Norway)
ABSTRACT
ABSTRACT
The aim is to present a range of valuable sample
This session focuses on key legal and ethical issues of
collections for diagnostics and for research stored within
biobanking in an international context.
the healthcare and at research departments, as well as
Jennifer Harris and Isabelle Budin-Ljsne, both at The what to think about when planning new sample
Norwegian Institute of Public Health, focus on three key collections.
ethical issues in international biobanking: (1) informed
The discussion during this session will focus on the value,
consent, (2) protecting privacy, and (3) access to
future use and how to get access to samples
research data. Biobanking, and the science it fuels have
raised new challenges surrounding these issues and these Publications and methodology as a way to
challenges have catalyzed the development of determine usability of various sample collections
approaches and tools, including IT and biostatistical
solutions, to facilitate ethically robust biobanking. An Standardisation of samples and data for various
overview of the main concerns arising in each of these molecular methods
areas and examples of solutions developed are Prospective sample collections: what to consider in
presented. Our summary draws heavily on the ELSI order to ensure high quality samples and data linked
harmonization work conducted in conjunction with the to samples
ethics and society platforms in several international
biobanking projects including PHOEBE, GenomEUtwin, Access to stored samples and ethical and legal
ENGAGE, P3G, Biobank Norway and BioSHaRE-EU. considerations
Anna-Sara Lind and Jane Reichel, both at the Faculty of

Law, Uppsala University, discuss two internationally
accepted points of departure in the legal framework for
biobanking: (1) collecting human tissue samples 2.0.3 Educational session: Sample and data analysis
presupposes an informed consent from the donor, and Proteomics
(2) that the research conducted on human tissues must
be approved by an Ethical Review Board. Beyond these Ulf Landegren (Uppsala University, Sweden)
basic premises, national legislation differs greatly. There ABSTRACT
is no consensus regarding what signifies an informed
consent, and the role and authority of Ethical Review Opportunities for nucleic acid-based analysis of
Boards may vary. If international biobanking is to biobanked samples expand due to rapidly improving
succeed, and samples are transferred from the state detection techniques. Nonetheless, protein level
where the sample was collected to another state where measurements are of particular value because of their
the research is conducted, the legal regimes of the potential to reveal ongoing disease processes anywhere
involved states have to find ways to cooperate. Various in the body simply via a blood sample, and reflecting
forms of administrative cross-border cooperation will be responses to ongoing drug therapy. Valuable information
presented and discussed. can also be collected about individual tumors by
visualizing the distribution of proteins in tissue sections
via immunhistochemistry. Mass spectrometry has
emerged as a powerful means to investigate protein
composition in divers samples, but the extreme
concentration ranges to be negotiated in blood samples
in particular, and the opportunity to image protein
distribution in situ, motivate the continuing emphasis on
antibody-based approaches for protein analyses in
biobanked samples.
It is likely that future protein biomarkers are to be found
at concentration ranges below those accessible by
present high-throughput methods. Future protein analysis. A number of technologies for short- and long-
biomarker assays may also go beyond simple protein read DNA sequencing are available and provide excellent
quantifications and increasingly focus on interacting sets opportunities for analyses of biobank samples. These
of proteins or posttranslationally modified proteins, technologies are available to Swedish research groups
necessitating highly resolving high-throughput analyses. through the core facilities of the Swedish National
Accordingly, there is a need for improved protein Infrastructure for Large-Scale DNA Sequencing (SNISS)
analytical techniques for biobank studies. and the research infrastructure of the Science for Life
Laboratory (SciLifeLab). The different technologies for
Detection techniques that depend on binding by single ultra-high throughput DNA sequencing from Illumina,
antibodies strongly depend on the specificity of the Life-Technologies and Roche all have in common that
antibodies used. Detection of weakly expressed proteins the high throughput is achieved through massive
is complicated by the risk that detection signals will be parallelizing of sequencing reactions, such that millions
overwhelmed by even minor tendencies to or hundreds of millions of sequencing reactions are
crossreactivity by the antibodies for more abundant performed in parallel of templates attached to a solid
proteins in the sample. The classical sandwich face. The technologies differ in the number of DNA
immunoassay overrides this limitation by depending on bases read from each template between 50-500 base
simultaneous recognition of target molecules by pairs of pairs and in the chemistry used to call the bases,
antibodies, improving detection specificity. For technical resulting in different error rates and sequencing biases.
reasons, this pairwise binding has complicated Since several of the present technologies are based on
multiplexing of the assays, however, so that only single short reads, they are applicable also to analyses of DNA
or small numbers of protein species can be analyzed in or RNA samples that have been reduced to shorter
each sample aliquot. With limited amounts available of fragments, through sample degradation. Although
each biobanked sample, this reduces the number of formalin fixed paraffin-embedded samples is possible to
proteins that can be investigated. use, they are useful only for some applications. In this
Over a number of years our research group has talk I will present an overview of the technologies with a
developed a technology called proximity ligation or PLA, special emphasis on their use in analysis of different
which offers significant advantages for analyzing patient types of biobank samples.
samples. The assays can be configured to depend on
target recognition by two, three or more antibodies for 2.0.5 Educational session: Sample and data analysis
enhanced specificity of detection. Once bound to the
target protein, oligonucleotides attached to the Metabolomics
antibodies are joined by ligation, giving rise to DNA
Thomas Moritz (Swedish University of Agricultural
reporter molecules that are amplified for enhanced
Sciences, Ume, Sweden)
detection. The approach thereby addresses the needs
both for high specificity and sensitivity, and it has proven ABSTRACT
possible to simultaneously measure as much as 100
different proteins in 1 microliter plasma samples with Metabolomics, the quantitative analysis of all the
very good sensitivity. Using a variant of the procedure, endogenous metabolites in a biological system, provides
proteins, protein interactions and posttranslationally biochemical information that can be linked to particular
modified proteins can be visualized in tissue section, phenotypes. Besides addressing fundamental biological
providing improved insights into pathological processes questions it is used in personalised medicine research,
in the tissues or in responses to specific therapies. biomarker identification, drug target identification,
theragnostics and metabolic network construction. The
growing interest in metabolomics has been triggered by
2.0.4 Educational session: Sample and data analysis rapid advances in metabolic profiling techniques, data
analytical tools and bioinformatics. It is now possible,
Genomics/Transcriptomics using appropriate mass spectrometry techniques, to
Ulf Gyllensten (Uppsala University, Sweden) detect more than 1000 metabolites in a sample.
However, measuring and statistically evaluating levels of
ABSTRACT numerous metabolites (thousands) poses major analytical
Ultra-high throughput DNA sequencing has emerged as challenges, requiring both advanced and costly
a core technology in biology and medicine, and that has equipment, and highly validate methods. The
provided fundamental new insights in biology and fuelled presentation will cover a general overview of the
the creation of the field of genomic medicine. The metabolomics field, including possibilities and limitations
genomics era is based on technologies for ultra-high associated with metabolomics. Focus will be on sample
throughput genomic sequencing and the use of dedicated handling, analytical methodology and data analysis.
high performance computer clusters for sequence
IDEA LABS
3.0.1 Idea lab is a critical factor for the generation of molecular data
from biobanked samples. This issue becomes particularly
Gaining knowledge from samples important with the ambition to compare data from
and data samples collected and analysed at different locations.
Quality control comprises for example assessment of
Theme Leader: Mathias Uhln (SciLifeLab, Sweden) integrity and concentration of bio molecules (DNA,
How do we get the most knowledge out of samples and RNA, protein, metabolites) in samples as well as level of
data? detail and quality of associated data. However, at some
point one needs to analyze the data with good enough
ABSTRACT quality and standards. Projects on quality issues such as
SPIDIA (providing evidence-based standards for sample
How many cohorts do we need? pre-analytics) and the Biospecimen Research Network
Kristian Hveem (HUNT Biobank, Norway) (BRN, NCI USA) already exist do we need more? How
do you define good enough?
For almost 3 decades, an increasing number of health
surveys and screnning studies have been conducted, Molecular analysis how to make best use of
especially in Northern Europe. Stable and primarily samples?
homogenous populations, a personal identification
number, a public health service with accessible clinical Mike Taussig (Babraham Bioscience Technologies Ltd,
records and a number of updated, well organized health Cambridge)
registries have formed the basis for a number of very
The range of biomolecular resources required for
attractive population cohorts available for
analysis of biobank samples includes the advanced
epidemiological research. High through-put analytic
molecular procedures and reagents for detection of
platforms have further increased their research
potential, in particular for genetic screening. Already, the nucleic acids, proteins and metabolites. A particularly
European research community can be offered access to clear example of the rapidly expanding opportunities for
population cohorts and clinical biobanks with millions of molecular data analyses is provided by next generation
samples and participants. Only in Norway, more than 10 DNA sequencing, where the rapid advances in
% of the population have donated samples to be stored technology and reduction of cost have made it an ideal
in population biobanks. means of collecting molecular information of germ line
and somatic genomic variation, transcript expression and
However, we still need more cohorts and in particular, a epigenetic modifications of individual samples.
new and state-of-the-art approach for sample Measurements of the proteome represent an
collections. This is especially important for utilizing the intrinsically more complicated challenge. There is an
new and advanced analytic technologies. The urgent need for improved assays for proteins in
presentation will discuss in more detail why we still need biological samples, to quantify miniscule amounts of
more cohorts, how these cohorts should be composed, proteins and distinguish subtle variants, and to
and how to link clinical data and disease endpoints to the investigate very large numbers of proteins in parallel.
large biobank collections This is key to the identification of biomarkers, either
Quality and standards Whats best? individually or as combined disease or ageing related
signatures, for characterisation of body fluids and to
Markus Perola (THL, Finland) distinguish healthy from disease states. The challenge of
protein analyses in fluids such as plasma is their
There is a growing realization that the primary resource
needed to best utilize the modern molecular biology immense complexity, with concentrations of
tools for studies on human health are large collections of diagnostically interesting proteins spanning at least ten
high quality samples from populations that include orders of magnitude. Particular hurdles to be overcome
extensive clinical information. High-quality biobank include the need for much greater sensitivity, improved
samples will be a prerequisite for these efficient -omics multiplexing in small sample aliquots, and distinguishing
analyses being in major added value for European closely similar proteins. Moreover, as sensitivity of
research. The value of biobanks consists from two major detection increases, so too does the number of proteins
components, the availability and quality of deposited for which there is the opportunity for analysis,
samples and amount and quality of data linked to each potentially uncovering new biomarkers of clinical utility,
sample. OECD best practice guidelines for biological such as proteins leaking from small amounts of diseased
resource centres define minimal infrastructural, tissues. Large resources of wellcharacterised antibodies
personnel, procedural, bio safety and bio security as well will be an essential complement to the emerging assay
as quality requirements including certification. It should techniques, to enable detection of the full range of
be compulsory for biobanks to commit the human proteins in plasma and tissues and hence in
implementation of some external guidelines and detection of biomarkers in population studies. The
standards. The proper handling of samples for collection and storage of biological samples should be
proteomics, metabolomics and other molecular analyses informed by qualified insights into the methods that will
be used to investigate the samples. In general, samples 3.0.2 Idea lab
are collected with the intention of being used over many
years, whereas technologies for analysis can be expected
The Value of Biobanking
to improve rapidly and radically. It is therefore of great Theme Leader: Henrik Grnberg (Karolinska Institutet,
importance that users of biobanked material can access Sweden)
new promising techniques promptly and continuously,
and also connect older biobank material to the methods How can we show the benefits of biobanking?
used at the time the samples were collected. This Cost-benefit: how do we secure the funding and trust to
requires efforts to build databases of analytical support it all?
resources and methods applicable to biobanked samples.
ABSTRACT
Informatics - the leap from data to knowledge
Health-economic value
Isabel Fortier (McGill University, Canada)
Stephen Birch (McMaster University, Canada)
Advancement in knowledge is contingent to the
realization of high quality studies and biobanks that are Exploring the economic case for biobanks.
built upon various designs and highly specialized scientific Progress in medicine does not focus on doing existing things
targets. In the last decades, major financial and scientific more cheaply and simply, but on discovering complex and
investments have been committed and millions of difficult things to do that previously could not be done at all
citizens have voluntarily contributed data and bio-
specimens to large population-based or disease-focused Enoch Powell, UK Minister for Health (1962)
studies. It is largely recognized that these investments
The economic challenge is to is to translate the
have permitted major progress in our knowledge of
knowledge of new complex and difficult things into
various risk factors of complex diseases. However,
wisdom about introducing only those things that
advances in science and technology now let us look
represent a positive contribution to societal well-being
forward to promising avenues for research, and allow
the construction of infrastructures that can support the Are biobanks expected to lead to a net increase in
next generation of research potentials and requirements. societal well being?
To leverage scientific discovery, these technologies need
to support constant improvement of data quality and 1. What would be the benefits to the health of the
facilitate access to data and bio-samples by the research population?
community. Global collaboration is also a central path by
which the research community can ensure optimal 2. What resources would be required?
leveraging of the scientific potential of current and future
studies. Increasing data compatibility and facilitating 3. Who would be responsible for providing these
integration (or pooling) of data across studies is essential resources?
to obtain the large numbers of participants and samples
necessary to conduct research investigating the interplay 4. Would this represent the most productive use of
between genetic, lifestyle, environmental, and social
these resources?
factors that determine health and (complex) diseases.
However, the quantity and complexity of information
collected in individual studies, the heterogeneity of study Clinical Practice value
designs and the various ethical, legal, social and cultural
Joakim Dillner (Karolinska Institutet, BBMRI.se, Sweden)
contexts are key factors to consider when generating
compatible datasets across studies. Establishment of Development of new diagnostics is a strategic area for
infrastructures encouraging emergence of novel research improving the cost-effectiveness of the health care
programs and achievement of collaborative research system, as improved diagnostics can provide i) more
both require use of rigorous methodological approaches, accurate diagnoses ii) earlier diagnoses (e.g. in screening
and access to the specialised information technology, programs) and iii) treatment strategies tailored to
scientific and ethic-legal resources and tools. optimize the likelihood that the individual patient will
benefit from the treatment. Development and validation
of new diagnostics is today a slow and expensive process
commonly based on clinical trials in the research setting.
Implementation and evaluation of new diagnostics in
clinical laboratory medicine is hampered by difficulties in
comparing different available tests against each other and
lack of long-term follow-up to evaluate the clinical
benefit of the testing when used in real-life clinical
medicine.
How can diagnostics companies and clinical laboratory
medicine work together with the health care providers
and researchers in the biobanking sciences to create a
biobank-based infrastructure to provide faster, cheaper
and more reliable ways to develop, validate, implement
and evaluate new and improved diagnostics?
and to implement exploratory and validation research in
the fields of cancer biomarkers for early diagnosis, of
Drug Development value bioimaging and of personalised therapeutic approaches.
David Cox (Pfizer, USA) These studies can also be shared within RIBBO
Network.
Development of new therapies addressing unmet
medical need requires a deep knowledge of the A Biobank Infrastructure like this should interact with
biological basis of human disease. Attainment of such scientists provided of an excellent biological know-how
biological knowledge requires longitudinal clinical on a specific aspect, strong enough to plan exploratory
outcomes data and biological samples contributed by the studies too. Last generation OMICS technologies
public for the common good. How can companies in the applicable to biological fluids and microsamples should
private sector work with academic research centres to be considered of preferential interest. Other potential
create a precompetitive public-private knowledge base collaborators should be represented by Companies
for the public good and maintain public trust, while at interested in innovative bioimaging approaches.
the same time reconcile a need to acquire intellectual Institutional Biobanks from National Cancer Research
property and achieve financial return on investment? Centres have the unique possibility to acquire high
quality samples from real word oncology practice and
Ethical value from controlled clinical studies. Even more important,
Helena Kriinen (BBMRI.fi. Finland) projects could develop in a multidisciplinary clinical
oncology mainframe making possible immediate
In research there are several hypothetical or real ethical evaluations of potential clinical impact, limitations, etc.
risks. They can be related to the quality of the research The possibility to host scientists from all over Europe
as (very) low quality research can always be considered and to apply for request of small start-up budgets should
unethical. Also competition between research groups or be guaranteed.
possible dependency on the sponsors may lead to
unethical consequences. Research using human subjects Healthcare
always involves ethical questions related to issues like
consent and privacy. The increasing amount of regulation Gert Jan van Ommen (Leiden University, the
burden researchers and may lead to unintentional or Netherlands)
even deliberate neglect of this regulation, especially in As the Netherlands hub of the European BBMRI,
complicated international research settings. When BBMRI-NL collates the large majority of existing Dutch
amounts of samples grow and collaboration increases, Biobanks. 9 large data enrichment/harmonization
the dimensions of the possible ethical mistakes also projects between all academic health care institutions
grow. have been set up, to improve genomic insights, impute of
In this workshop we intend to identify the ways how NL haplotypes in to the ca 150.000 NL samples so far
well organised biobanks and collaboration between them uses in GWAS studies, integrate other omics
can minimise ethical risks and thus add to the ethical approaches into a functional genomics approach, link
value of biobank research. biobanks to registries, strengthen the data mining in
common and rare disease and cancer and address the
population interfacing, including return of results. The
most advanced project is the Genome of the
3.0.3 Idea lab Netherlands (GoNL, which analyses 1000 whole NL
Working together: academy, genomes, and will greatly increase strength of NL GWAS
study the whole genome of samples. GoNL is an open
healthcare and industry project, where external researchers are welcome to
propose their own studies (and 19/22 such proposal had
Theme Leader: Anders Ekblom (AstraZeneca, Sweden)
s been approved. Interactions with industry, while
What do I want from my collaborators?
harder to design considering existing consent limitations,
What do I have to offer? are being developed based on the BBMRI Expert centre
model involving an open, precompetitive middle-ground
What can I do to make the collaboration work? discovery platform.
ABSTRACT
Pharma
Academy Bjrn Dahllf (Novartis, Switzerland)
Angelo Paradiso (IRCCS Istituto Tumori "Giovanni Paolo The Novartis Institute for Biomedical Research (NIBR)
II", Italy) hosts a large global biorepository of human samples. The
The Institutional Biobank of National Cancer Institute of purpose is to provide support to projects in
Bari, Italy, collects consecutive series of biological development as well as to early research in disease areas
samples from cancer patients observed in our Cancer and pathways.
Centre. It works as Regional Reference Cancer Biobank For the latter, NIBR has since many years a strong focus
and it is hub of National Network of Cancer Centres on rare diseases for which we want to explore disease
Biobanks (Rete Italiana BioBanche Oncologiche (RIBBO). causing mutations and dysregulated pathways. Such
It has been activated to support cancer molecular understanding often leads to opportunities for fast
epidemiology studies referred to the regional territory clinical Proof-of-Concept (POC) studies in smaller
patient cohorts. Thus, many of our biobanking efforts research ethics committees. Why should we have to
are aimed at supporting collaborations with clinical decide again and again whether we opt in or out of quite
experts on rare diseases. Opportunities and challenges in similar research projects, the critics ask?
our pharma biobanking will be briefly discussed.
What kind of consent is compatible with a robust future
Biotech of large scale biobanking? Are we anywhere near a
consensus on what a valid consent for Biobank research
Kristian Hveem (HUNT Biobank, Norway) is or should be? And why does this consent-question
trigger so much energy and debate?
Biotech: To develop commercial activity within the
framework of publicly funded population biobanks. Ethical Review
Collaborative biobanking and data gathering across
3.0.4 Idea lab national borders represents significant patient interests
Navigating the ethical and legal in the development of new means for diagnosis,
treatment opportunities and the possibility to monitor
framework drug efficacy and safety. The patients are the immediate
victims of bureaucratic hurdles related to ethical review
Theme Leader: Bartha Maria Knoppers (McGill
or too strict information and consent procedures. A
University, Canada)
more expedient ethical review approach is needed that
How do we strike the right balance between individual takes the risk levels associated with a study into
integrity and improving public health? account. When risks are high, as in some kinds of
interventional medical research, the review should be
Are current informed consent and ethical review processes fit more thorough and when risks are minimal the review
for purpose today? process may be more expedient. The recent proposal
ABSTRACT from the US Department of Health & Human Services
represents a promising step forward. I will give examples
The last decade has seen a widening of ethical of how this could be implemented in practice.
frameworks and principles to become more international
in scope and potential access. Nevertheless, legal and Individual integrity
ethics discussions surrounding the donation of samples
and data to biobanks for future research (often Evert-Ben van Veen (MedLawconsult, the Netherlands)
unspecified) still centers on the breadth of the zone of Law regulates human interaction in an institutionalised
privacy and future uses that an individual participant is way. Modern western law is based on certain principles.
allowed to consent to. From support for a broad but One set of those principles is adherence to human
well-governed consent of an entire cohort or support rights. Of those human rights, the right to bodily
for a personalized array of options for an individual, the integrity and to privacy are cornerstones. Informed
art and science of biobanking per se is often lost in the consent before being subjected medical procedures and,
debate. Both abstract discussions or those forgetting even more, before being subjected to medical research,
the epidemiological nature of biobanks lead to a are the concrete applications of the right to bodily
contradictory and inconsistent, ethical playing field for integrity. None of these rights are absolute but
researchers and citizens alike. The presentations in this exceptions can only be made under stringent conditions.
idea lab aim to begin to chart more informed and Exceptions should be distinguished from the scope of
realistic routes for policy. application. Is observational research with data and
tissue subjecting someone to medical research? That is a
different question and when it is not, there is not an
Informed Consent exception to the principle that medical research can only
Berge Solberg (Norwegian University of Science and be performed with full informed consent, in this case
Technology, Norway) then as to what data and tissue may be used for exactly
what purposes. The answer whether it is or is not, will
The debate on informed consent in Biobank research has also depend on the circumstances under which such
been going on for many years with many different research is performed. The right to privacy will come
options and concepts like presumed consent, specific more to the foreground when it is not. That right is less
consents, blanket consents, etc. Right now, the dispute absolute than that of bodily integrity. It allows for more
seems to be whether a model of broad consent or a exceptions. One of those is that we allow people to give
model of dynamic consent represents the highest up some of their privacy, in the sense of informational
ethical standard in Biobank research. The challenge of self-determination, if certain conditions are met and they
the broad consent model is to convince its critics that a agree with those. Broad consent can be seen allowing
broad consent could mean an informed consent. - How people to use their right to privacy as they seem
can we give an informed consent to unknown future warranted. The opposite, namely requiring them to
activities, the critics ask. The challenge of the dynamic enter into a system of layered or dynamic consent, might
consent model is to convince the critics that the even be seen as a contradiction to what it is all about: to
increased costs of this model can be justified and that allow people to make choices, such as to contribute to
research participants are better off when they are the public good. Of course, this presupposes that the
encouraged to engage and to be in charge instead of mentioned conditions are strictly adhered to.
Collective integrity (public health) would argue that people have an obligation to risk their
lives in research to benefit the public, but does this imply
Joanna Stjernschantz Forsberg (Uppsala University, that we have a right to refuse to let our samples and
Sweden) data be used too? Furthermore, who is the public? Are
we not all a part of this public, in particular because we
Biobank research highlights an apparent conflict between
do not know in advance what kind of medical advances
individual rights and the public good. This is because the
we will benefit from? And in that case, why should our
costs and risks that are associated with this kind of
individual rights be protected so stringently that our
observational research (and research using data in
mutual interest in co-operating to further healthcare is
medical records and registries as well) differ significantly
thwarted?
from those that are imposed on individuals that
participate in traditional interventional research. Few
ADVANCED MOLECULAR
TECHNOLOGIES FOR SAMPLE
ANALYSIS
RNA sequencing as well as phosphoproteomic profiling
4.0.1 Sample analysis: Genomics of the samples to understand the molecular profiles of
Biobanking facilitates systems the patient samples. Third, we determine the response
of the patients cancer cells ex-vivo to a cancer
medicine research of acute pharmacopeia-wide panel of 270 cancer drugs, including
myeloid leukemia (AML) and all chemotherapeutic agents, targeted clinical drugs and
many emerging inhibitors. Fourth, an integrated systems
rapid translation in optimizing medicine database is developed to correlate genomic
clinical treatments of individual and cell signaling changes in AML with the ex-vivo drug
response profiles on a patient-by-patient basis. Fifth, we
patients translate in real-time promising observations on
Olli Kallioniemi (University of Helsinki, Finland) approved drugs for individualized therapy optimization in
the clinic. If the drugs are not effective, or if the AML
ABSTRACT blasts become refractory to treatment, we repeat the
process to understand why the treatment failed.
Olli Kallioniemi1, Caroline Heckman1, Mika Kontro2,
Examples will be shown to illustrate the impact of this
Henrik Edgren1, Samuli Eldfors1, Tea Pemovska1, Evgeny
systems medicine strategy for individualized selection of
Kulesskiy1, Muntasir Mamun Majumder1, Riikka
therapy for patients with drug-resistant AML.
Karjalainen1, Bhagwan Yadav1, Agnieszka Szwajda1, Naga
Poojitha Kota Venkata1, Astrid Murumgi1, Disha We believe that combining many layers of cancer-omics
Malani1, Alun Parsons1, Petteri Hintsanen1, Henrikki profiling data with comprehensive ex-vivo drug response
Almusa1, Jess Mara Lpez Mart1, Pekka Ellonen1, data is a powerful new strategy to personalize and
Pirkko Mattila1, Maija Lepist1, Sari Hannula1, Sonja optimize clinical therapies for cancer patients.
Lagstrm1, Minna Suvela1, Maija Wolf1, Jonathan Furthermore, repeated biobanking, bioprofiling and
Knowles1, Satu Mustjoki2, Janna Saarela1, Tero pharmacological analysis at the time of treatment failure
Aittokallio1, Krister Wennerberg1, Kimmo Porkka2 : will help us to incrementally develop better therapeutic
1Institute for Molecular Medicine Finland FIMM, strategies and hopefully design curative drug
University of Helsinki, Helsinki, Finland; 2Hematology combinations in the future.
Research Unit, Department of Medicine, Division of
Hematology, Helsinki University Central Hospital,
Helsinki, Finland 4.0.2 Sample analysis: Genomics
Cancer genome sequencing has led to breakthrough High-resolution genome analysis
observations in understanding the biology of cancers.
However, for many cancer types, translating genomic using legacy samples
advances to clinical treatment decisions remains a Ivo Glynne Gut (Centro Nacional de Analisis Genomico,
significant challenge and may take years if not decades to Spain)
optimize. For many cancers, such as acute myeloid
leukemia (AML), the number of sporadic mutations is ABSTRACT
very high and variable from patient to patient, and Nucleic acid sequencing has been the workhorse of
detecting driver mutations remains a challenge. genome research since the beginning of the human
Furthermore, many driver mutations are either not genome project in the late 80s. Efficiency of sequencing
druggable at all or druggable, but not actionable as has improved six orders of magnitude in the last ten
there are no approved drugs available for patient years and large-scale projects such as the 1000
treatment for the pathways of interest. Genomes, the International Cancer Genome
Our project on individualized systems medicine of AML Consortium (ICGC), the International Human
aims to dramatically speed up the implementation of Epigenome Consortium (IHEC) and the International
personalized medicine in the clinical setting. The project Rare Disorder Research Consortium (IRDiRC) now
is carried out in close collaboration between FIMM and generate thousands of human genome sequences every
the Hematology Clinic of the Helsinki University Central year.
Hospital (HUCH). First, we biobank sequential samples The International Cancer Genome Consortium (ICGC)
from AML patients at different stages of disease aims to fully characterize in the 50 most common forms
progression, including at diagnosis, during treatment of cancer 50 tumour/normal sample pairs exhaustively
response and at the time of disease progression, thus and then to validate observations in further 450 samples.
covering the clonal evolution of the disease in a The first three years of this project have seen huge
comprehensive way. Second, we perform exome and advances in the development, implementation and
standardisation of the methods for characterising 4.0.4 Sample analysis: Proteomics
samples, ethical approval, whole-genome sequencing,
exome sequencing, RNA sequencing, epigenetic analysis,
A critical view of proteomics for
methods for validation, informatics analysis and data clinical discovery: From shotgun
basing.
to targeted analyses
The Spanish contribution to the ICGC is on Chronic
Lymphocytic Leukaemia (CLL). Our main responsibility Peter James (Lund University, Sweden)
has been whole genome sequence analysis, exome ABSTRACT
analysis, RNA sequence analysis and epigenetic analysis.
Complete genome sequencing of many samples requires Background: We have been developing and applying
bringing together many different elements, starting from large-scale methods for biomarker study using tissue
samples, preparation for sequencing, sequencing itself, biobanks. We have carried out extensive analysis of
data analysis, through to verification of results and ovarian, breast, brain, oesophageal and soft tissue
translating a result into biological knowledge. So far, we tumours in order to characterise the tumour for better
have identified recurrent mutations in the NOTCH1, evaluation of prognosis and treatment options.
SF3B1, XPO1, MYD88, POT1 and the KLHL6 genes. Methods/approach: We have initially used 2D-PAGE
All ICGC projects rely on fresh input material for their as a high throughput method since it is highly parallel and
analyses. Unfortunately, most specimens are FFPE. To it is possible by using multiplexing to run up to 100
include these specimens into studies requires adapting tumours in a single run in two days. This requires
the sequencing procedures. Efforts in this direction will extensive use of automation and required the
be described. development of robotic solutions.
Results and lessons learned: We will show the
results from 4 main studies that illustrate how varied the
4.0.3 Sample analysis: Proteomics studies can be. The critical points that we will illustrate
Can protein signatures predict are the needs for:
cancer? 1. Extremely reproducible sample handing and QC
controls are a primary consideration
Carl A.K. Borrebaeck, Department of
Immunotechnology, and Program Director of Create 2. Power analysis is an absolute requirement to ensure
Health The Strategic Center for Translational Cancer that the results are meaningful
Research, Lund University, Lund, Sweden
3. Validation of results must be carried out, preferably
ABSTRACT with an orthogonal technique
One of the driving forces in personalized medicine is the 4. Focussed or targeted analyses lead to higher
search for protein patterns that can be utilized for information content than shotgun approaches
improved diagnosis, assessing the risk for tumor relapse
5. Hypothesis generating experiments require
and disease progression, as well as for evidence based
validation in cell or animal models
therapy selection. We have designed and developed
antibody microarray, a high-throughput technology for 6. Parallel measurements on the same tissue material
protein expression profiling, to the point where it is now is desirable for best use of material
generating data for improved diagnosis, patient
stratification, risk assessment, as well as giving insights 7. Clinical data must be accurate and unbiased to
into disease biology. Several clinical studies have been allow interpretation of results
performed on complex disease, such as breast cancer, 8. Initially, data quality evaluation should be done using
glioblastoma multiforme, pancreatic carcinoma, and unsupervised methods.
gastric adenocarcinoma, as well as on autoimmune
disease such as SLE. 9. The best studies start with a clinical question
The presentation will be focusing on prognostication and 10. The clinical question should be patient and not
risk classification of cancer, as well discussing the next research orientated
generation of discovery array formats.
4.0.5 Sample analysis: Proteomics 4.0.6 Sample analysis: Metabolomics
Affinity proteomics to profile High-throughput serum NMR
plasma disease and ageing metabolomics Epidemiology in
Jochen M. Schwenk (SciLifeLab Stockholm, Sweden) the biboanking era
ABSTRACT Mika Ala-Korpela (University of Oulu, Finland)
The growing number of plasma samples stored in ABSTRACT
biobanks opens new possibilities to screen for protein
biomarkers needed in diagnostics and patient care at a Comprehensive approaches to gain insights into
broader scale. To systematically generate protein metabolic variation are becoming increasingly popular in
profiles from body fluids, antibody suspension bead order to understand disease aetiologies and to develop
arrays have been developed to accommodate affinity metabolic phenotyping for holistic risk assessment and
reagents provided by the Human Protein Atlas diagnostics. Towards these goals, we have set-up an
(www.proteinatlas.org, [1]). The method uses non- automated high-throughput platform for serum NMR
fractioned, biotinylated and heat-treated samples, and metabolomics (1) that has now (May 2012) been
with 384-plexed bead arrays [2] up to 150,000 operational for over 3 years with around 90,000 samples
immunoassays can be performed per day. This single- from a wide variety of epidemiological studies analysed.
binder approach has revealed interesting candidates from The methodology enables absolute quantification of
single disease analysis in plasma in the context of specific molecular identities and we have recently
prostate cancer [3] and renal impairment [4]. Recently, presented genome-wide association and heritability
the assay has been applied to other body fluids but also results for 117 directly detected metabolic measures and
to broader and larger scaled, hypothesis-free efforts: (i) 99 variables derived from these measures (2). The
A pilot study using 4,600 antibodies to profile a total of primary metabolic information includes extensive
600 samples from 20 disease such as cancer, characterisation of 14 lipoprotein subclasses and their
cardiovascular and neurodegenerative diseases. (ii) lipid constituents together with various low-molecular-
Samples from 384 blood donors aged 5-85 were weight metabolites. These molecular data relate to
analyzed with 7,600 antibodies to identify the profiles multiple biological pathways and metabolic functions in
age and/or gender associations. (iii) A recent focus has health and in disease. Consequently, combined with
been the analysis of serum and plasma from cancer (384 genome-wide and gene expression data at the population
samples, 5 cancer types) and cardiovascular disorders level, this comprehensive metabolic information has
(384 samples, 4 categories) using 10,000 antibodies. The started to trigger detailed systems-level findings (3,4).
overall strategy is to identify and suggest antibodies to This novel line of systems epidemiology is anticipated to
further technical and biological verification, including grow rapidly and to allow a more thorough molecular
other body fluids. To address off-target binding understanding of biochemical pathways and disease
susceptibility of single-binder assays, candidate antibodies pathologies. Yet metabolomics will be truly useful in
are being involved in sandwich assay developments and epidemiology or in genetic studies only if quantitative
independent sample cohorts are being accessed to data on specific, identified metabolites are available.
further describe the involvement of a biomarker During the talk the technological as well as the metabolic
candidate in a disease context. characteristics of the new platform will be presented and
discussed in relation to epidemiology and genetics (5,6).
1Uhlen,
M. et al. (2010). Nat Biotechnol; 28: 1248-1250.
2Haggmark, A. et al. (2011) N Biotechnol. [Epub] http://www.computationalmedicine.fi
3Schwenk, J.M. et al. (2010) Mol Cell Proteomics; 9: 2497-2507. mika.ala-korpela@computationalmedicine.fi
4Neiman, M. et al. (2011) J Proteome Res; 10: 4925-4934.
1Soininen P, Kangas AJ, Wrtz P, Tukiainen T, Tynkkynen T, Laatikainen
R, Jrvelin MR, Khnen M, Lehtimki T, Viikari J, Raitakari OT,

Savolainen MJ, Ala-Korpela M. High-throughput serum NMR
metabonomics for cost-effective holistic studies on systemic metabolism.
Analyst. 2009;134:1781-5.
2Kettunen J, Tukiainen T, et al., Peltonen L, Perola M, Freimer NB, Ala-
Korpela M, Palotie A, Ripatti S. Genome-wide association study identifies

multiple loci influencing human serum metabolite levels. Nat Genet.
2012;44:269-76.
3Inouye M, Kettunen J, Soininen P, Silander K, Ripatti S, Kumpula LS,
Hmlinen E, Jousilahti P, Kangas AJ, Mnnist S, Savolainen MJ, Jula A,

Leivisk J, Palotie A, Salomaa V, Perola M, Ala-Korpela M, Peltonen L.
Metabonomic, transcriptomic, and genomic variation of a population
cohort. Mol Syst Biol. 2010;6:441.
PRICING MODELS FOR BIOBANKING
Biobank and BBMRI.se have gained from walking this fine
Welcome to a workshop arranged by HUNT line, and our plans to reach long-term sustainability
/LifeLines. during the next 3 years. No discussion of costs is
Many biobanks in Europe store human tissue material complete without paying attention to the value they are
connected to population health surveys, in many intended to generate, and this presentation will also
instances financed by public resources. Monetary consider how we can demonstrate it in a way that
compensation policies for handing out data and samples encourages continued use, development and investment
from these biobanks vary widely, with some institutes in the operation.
charging nothing but shipment costs and others charging
a fee for the use of the samples. This brings up questions
related to sustainable biobanking and research. Specific 5.0.3 Pricing models for biobanking
issues that will be addressed in this workshop are: Do
data and samples of biobanks have sufficient value such
How to ensure economic
that monetary compensation can be used to ensure sustainability in a publicly funded
maintenance of the biobank infrastructure? Or would
valorization limit research possibilities by putting up biobank?
financial barriers to publicly funded data? This workshop Kristian Hveem (HUNT Biobank, Norway)
provides an exploration of challenges, questions and
solutions as experienced by researchers, industry, ABSTRACT
biobanks. Many of the large scale biobanks are publicly funded,
Goal: To work towards a viable strategy for valorization motivated by the need to establish state-of-the-art
of biobank materials platforms for excellent research activity. Even so,
biobank establishment and running costs still exceed the
Programme: Invited speakers will outline the pricing funding that may be directly available from the public
model for handing out data / samples from their sector. Thus, user fees and other funding resources must
biobank and present their views on valorization of be introduced stimulating the biobanks to be both
material stored in biobanks. (15 min. per speaker) attractive from a researcher's perspective and to put
In a plenary discussion, interested participants strong emphasis on sample quality and availability. The
are also invited to present their pricing model with no presentation gives an example of the pricing model
more than 2 slides and 3 minutes speech. (45 min). If this developed at a large population biobank in Norway, the
is of interest, please bring your slides to the workshop HUNT biobank and the National CONOR biobank.
on a USB-stick.
5.0.1 Pricing models for biobanking

UK Biobank experiences
Paul Downey (UK Biobank, UK)
No abstract available
5.0.2 Pricing models for biobanking

Insights from KI Biobank and
BBMRI.se
Mark Divers (Karolinska Institutet, Sweden)
ABSTRACT
The economics of public sector biobanks are a balancing
act between covering costs, developing highly attractive
services, and ensuring they are affordable for the
customers, usually academic researchers reliant on
grants. This presentation will share the experience KI
FOLLOW UP FROM PRE-CONFERENCE
6.0.1 Follow up from pre-conference international research brought about by the evolving
landscapes surrounding data use and protection in
From summit to action Europe and the USA, (3) international governance and
Jennifer Harris (The Norwegian Institute of Public Health, access, and (4) bridging the research-clinic divide. These
Norway) four areas have already witnessed significant changes and
forward movement but also face new challenges. This
ABSTRACT session will highlight the main discussion and action
The grand theme Planning the International Route points that emerged from the summit. It will provide an
Forward for Biobanking was the focus of a pre- opportunity and open forum for the biobanking
conference summit held on September 19th and co- community to discuss these issues in more detail.
organized by BioSHaRE.EU, P3G, ISBER, ENGAGE,
BBMRI.se and ESBB. During the summit this grand
theme was concretized through examination of four
areas critical to international biobanking: (1) datasharing
strategies and models, (2) the implications for
KNOWLEDGE SHARING SESSIONS

7.0.1 Knowledge sharing: Ethics & regulation 7.0.2 Knowledge sharing: Ethics & regulation
Biobanks in the information Disclosure of Genetic Information
society contextualizing in Japanese Ethical Guidelines
motivations and concerns Megumu Yokono1,Kazuki Chiba2,Tsunakuni
Ikka3,Yusuke Inoue4,Sosuke Iwae5,Tohru Masui5,Yuko
Karoliina Snell (University of Helsinki, Finland)
Nagamizu6,Eiji Maruyama7,Eiko Suda8, Masayoshi
ABSTRACT Tsutsumi9 (1University of Oxford, School of Social Sciences,
UK,1Waseda University, Japan, 2Hokkai-Gakuen University,
Biobanks can be seen as one system among others that Japan, 3Kyoto Prefectural University of Medicine, Japan, 4The
gather, store and distribute vast amounts of personal University of Tokyo, Japan, 5National Institute of Biomedical
information. Therefore, in this presentation, social and Innovation, Japan, 6St. Andrew's University, Japan, 7Kobe
ethical aspects of biobanking are examined in the University, Japan, 8National Institute for Environmental
context of information society. This is done first by Studies, Japan, 9SRL, Inc., Japan)
analysing the attitudes and opinion of lay people. As
many researches show, biobanks are unfamiliar to most ABSTRACT
Europeans. But when people are given the opportunity
Background: To keep up with advancements in
to discuss biobanks, biobanks are contrasted and
genomics research, the Japanese government has
compared to other technological infrastructures,
recently revised its guidelines on genomics/genetics
different types of information gathering and storage
research (The Ethical Guidelines for Analytical Research
systems, and health care technologies that are more
on the Human Genome/Genes). In the course of this
familiar to people. Thus the motivations and concerns of
revision, there was much debate on the provisions on
people need to be looked in the wider context of
disclosure of genetic information. Under the Ethical
information society and their daily experiences of sharing
Guidelines, researchers should allow research
and protecting personal information. The analysis of lay
participants access to their genetic information by
opinions is based on focus group research conducted in
request, although there are some exceptions. This
Finland, which has been part of two international
obligation to disclose is introduced in the first version of
comparative projects. The second approach to
Ethical Guidelines published in 2001 to protect the
contextualising biobanks in this presentation is to
participants right to know, enshrined in UNESCOs
compare biobanks to some other socio-technical
Universal Declaration on the Human Genome and
systems: namely consumer genetics, crowdsourced
Human Rights (1997). Arguments against this obligation
health research and health related social media. By
to disclose are growing in the context of increasing
examining these other health related socio-technical
numbers of whole genome/exome sequencing research.
applications, new insights into motivations and concerns
of people can be achieved. Methods/approach: We reviewed explanatory and
other documentation submitted to the governmental
committee for revision, and minutes of the committee. other applicable laws) and supported by ethical
Some of the authors joined the committee as a member principles.
or an observer.
2. During the pre-legislation phase, Taiwan Biobank is
Results: In the revised Ethical Guidelines, the obligation governed by external oversight of the Department
to disclose genetic information remained unchanged. of Health and of the IRB of Academia Sinica.
However, a new provision--- disclosure is likely to Meanwhile,Taiwan Biobank Ethics and Governance
seriously impede the proper execution of the research--- Framework (EGF) is created for internal self-
was introduced as an exception to this obligation. This regulation.
modification was based on strict interpretation of the
Personal Information Protection Act, not on ethical 3. During the post-legislation phase, Biobank Act
discussion. In addition, revised Ethical Guidelines require provides external legal requirements which are
researchers to include a policy on disclosure in their internalized through amended EGF. Moreover,
research proposals. Ethics Committee ensures internal independent
review and oversight of biobank.
Lessons learned: In the context of research, there
could be at least two types of disclosure of genetic Lessons learned: Determination of appropriate
information, one is disclosure of incidental findings, and governance mechanism depends on the phase of biobank
another is disclosure by participants request. The development and on the social and legal background.
manner and necessity of disclosure would be different When legal requirement is provided by legislation to
depending on the nature and purpose of the research. solve ELSI issue, Taiwan Biobank can set up standards
Discussions founded on data protection legislation could according to its need or set up higher ethical standards
understate ethical implications of disclosure of genetic within the legal requirement. But when an issue is
information. intentionally excluded from the legal framework or
unanticipated issue arises, biobank needs more
7.0.3 Knowledge sharing: Ethics & regulation comprehensive and accountable decision making
mechanism to communicate with possible stakeholders
The Legalization of Taiwan and to interact with the competent authority.
Biobank Governance
7.1.1 Knowledge sharing: Collection & storage
Chien-Te Fan1, Wan-Shiuan Lin1, Jui-Chu Lin2
( National Tsing Hua University, Institute of Law for Science
1
Helsinki Urological Biobank: A
and Technology, Taiwan. National Taiwan University of
2
Science and Technology, Department of Humanities and new-generation integrated

Social Sciences, Taiwan) biobank for facilitating
ABSTRACT personalized medicine and
Background: Taiwan Biobank is a national population- translational research in
based biobank initiative that went through several
assessment projects executed by the Academia Sinica, urological cancers
and now it is at it's final review of establishment. To Tuomas Mirtti1,2, Tiina Vesterinen1, Reija Randen-
ensure that biobank operation and management are Brady1, Taija af Hllstrm1, Siv Knaappila1, Kysti
conformed to ethical and legal requirement, biobank Sutinen1, Kimmo Pitknen1, Antti Rannikko3
needs to be governed. Learning from international (1Institute for Molecular Medicine, Finland (FIMM), 2HUSLAB,
biobank initiatives, legislation can influence biobank Department of pathology, Helsinki, Finland, 3Helsinki
governance. Indeed, the enactment of biobank specific University Central Hospital, Department of urology, Helsinki,
legislation, the Human Biobank Management Act Finland)
(Biobank Act) greatly influenced Taiwan Biobanks
current governance. ABSTRACT
In this paper, we will first clarify the definition of biobank Background: Specimen and data repositories of clinical
governance and its mechanisms. Then, the current legal disease cohorts are needed for the development of
framework and ethical principles of Taiwan Biobank biomarkers, for diagnosis and disease follow-up, as well
governance will be presented. Finally, different as for the development of personalized therapies.
governance mechanisms adopted to solve the ELSIs, Helsinki Urological Biobank (HUB) is a joint project of
before and after the enactment of Biobank Act, will be FIMM and the Hospital District of Helsinki and Uusimaa
analyzed. Through the Taiwan Biobank experience in a (HUS) for the development of diagnostics and treatment
timeline, the role of legalization in biobank governance of urological cancers in the area of HUS.
will be explored. Methods/approach: HUB collects fresh and frozen
Methods/approach: Literature review, comparative tissue, blood and urine samples and clinical information
studies and legal dogmatics will be used to conduct the from patients with urological malignancies, i.e. prostate,
study. renal and testicular cancer or cancer of urinary bladder.
Samples are collected at the time of diagnosis, treatment
Results and follow-up visits and are processed according to the
1. Current governance of Taiwan Biobank is provided needs of modern translational research. HUB is also
through the legal framework (Biobank Act with developing automated sample handling protocols and
processing technologies for optimal use of biobanked
samples in subsequent translational applications. HUB possible. Through the wide range of collaborations the
aims at implementing new procedures for improved database is constantly growing. This raises several IT
transparency and ethics and rapid access to biobanked challenges including how to link different sources of
materials for academic research or company initiated data and how to finally integrate the necessary
R&D. The technologies, procedures and approaches information into health care practice.
adapted and optimized by HUB are communicated
nationally via the BBMRI.FI biobanking network in order
to facilitate the harmonization of new biobanking 7.1.3 Knowledge sharing: Collection & storage
approaches in Finland. Biospecimen science in The
Results: In 2012, there will be around 900 urologic Janus Serum Bank
surgeries performed in the HUS. The project aims to
enrol at least 80% of those patients to donate samples. Randi Gislefoss1, Lars Mrkrid2, Tom K. Grimsrud1,
HUB started collecting samples in March 2012. SOPs for Per Magne Ueland and his group3, Andreas Keller4
blood, urine and tissue collection are being developed (1Cancer Registry of Norway, Department of research,
and are subsequently published on the HUB website Norway,2Oslo university Hospital, Department of Medical
Biochemistry, Norway,3University of Bergen, Institute of
Medicine, Norway, 4Biomarker Discovery Center Heidelberg,
7.1.2 Knowledge sharing: Collection & storage Heidelberg, Germany)
Estonian Biobank new ABSTRACT
directions after a collection of Background: The Janus Serum Bank of Norway is
51 000 participants dedicated to cancer research. The biobank includes
serum samples stored at 25 C from 317 000
Liis Leitsalu-Moynihan1, Andres Metspalu1,2, individuals, of whom more than 52 000 have developed
(1University of Tartu, Tartu, Estonia, 2Estonian Biocentre, cancer.
Tartu, Estonia)
The potential of a biobank depends of the quality of the
ABSTRACT samples, i.e. to what extent they may reflect the
biological or biochemical status in the individual at the
Background: The Estonian Biobank, the population-
time of collection. For The Janus Serum Bank, an archival
based biobank of the Estonian Genome Center of the
biobank with 40 years of follow-up, the documentation
University of Tartu (EGCUT), was established in 2000.
on preanalytical sample handling and storage related
Over 51,000 participants have been recruited to the
changes are limited. Investigation of the samples quality
biobank. The active recruitment of participants has
after long term storage is therefore important.
ended, and the focus has shifted to expanding and
updating the database of the biobank; carrying out The aim of this presentation is to communicate results
research to find links between genes, environmental from stability studies
factors, lifestyles and complex diseases or other traits; as
well as building links with the medical community and Methods/approach: Several serum components (i.e.
finding ways to implement genomic information into proteins, hormones, amino acids, vitamins) have been
practice. investigated by a repeated cross-sectional design. Group
comparisons were done by ANOVA and Student
Methods/approach: The number of research projects Newman Keuls. Microarray platform RNAs has been
has been growing, and with each also the database, as used to analyze miRNAs
the results are returned to the database. The projects
are getting more interdisciplinary involving fields such as Results: The study demonstrated non-significant or
statistics, bioinformatics, and infotechnology. In order to numerically small group differences in the levels of
periodically renew and update the health information of Albumin, Methyl malonic acid, Aspartate amino
the database the EGCUT is utilizing its right to link to transferase, Cystatin C, Immunoglobulin E,
other national registries and carrying out re-contacting Immunoglobulin G, Sex hormone binding globuline,
projects. Transferrin, Homocystein and Vitamin B12 . Mean values
between fresh and 25 year-old samples suggested larger
Results: The EGCUT has 12000 DNA samples analyzed differences Alanin amino transferase, Creatinine kinase,
by high density genotyping arrays, over 10 000 plasma Insulin C-peptide, Ferritin and Folate. Among 28 vitamin
samples analyzed by NMR scans, over 1000 RNA B-related biomarkers, 6 (betaine, dimethylglycine,
expression arrays, 2000 extensive clinical laboratory asymmetric dimethylarginine (ADMA), symmetric
analysis, and over 85 full genomes are under deep dimethylarginine (SDMA), total cysteine and sarcosine)
sequencing (x40). For health information, the EGCUT were stable after 29 years storage. Selected miRNAs are
has been successfully linked to several registries and as shown to be stable in long-term stored serum.
of March 2012, 1000 participants have been re-
contacted.
Lessons learned: In order to successfully collaborate
standardization as well has harmonization of biobanks is
necessary. Having recognized that, the EGCUT will
continue its follow-up project by applying methodology
harmonized with the German National Cohort where
Results: Our intention is to generate a large collection
7.2.1 Knowledge sharing: Sample analysis (Technologies) of human glioma cell cultures using stem cell protocols,
Visualization of signal pathway and categorize these according to the mutation and
expression profiles in the TCGA database. At present
activity in single cells using in situ we have more than 40 sustainable glioma cultures in
PLA various stages of analysis. Injection to NOD-SCID mouse
brain reveals that all tested cell lines form tumors, and
Ola Sderberg, Carl-Magnus Clausson, Karin Grannas, most are infiltrative. The cells are also assessed for
Linda Andersson & Bjrn Koos, Uppsala University, neuron/glia marker expression. Molecular profiling of the
Department of immunology, Genetics & Pathology, cell cultures is performed in collaboration with Dr. E.
Sweden Holland (Memorial Sloan-Kettering Cancer Center, NY,
ABSTRACT USA). From the U-CAN collection we have access to
patient blood samples, and from many tumors we have
Measurements in single cells are required to identify cell- saved a piece of tissue before explanting from which, in
to-cell variation in a heterogeneous cell population such addition to the cells, we will prepare DNA and RNA for
as a tissue section. The activation status of proteins is in analysis.
most cases regulated by post-translational modifications
(PTMs), such as phosphorylation, or through interactions Conclusion: This project will enable us to stratify the
with other proteins, generating protein complexes. To tumors from which the human glioma cell cultures were
obtain a coherent view of the activity status of a cell established, according to the TCGA subtypes. We hope
simultaneous measurement of multiple parameters such to be able to also relate the profiles of the human glioma
as protein levels, protein activity and mRNA expression cultures to these subtypes. If so, this would create a
is required. To enable these kind of analyses in situ unique bank of highly characterized human glioma cells.
Proximity Ligation Assays (in situ PLA) was developed It should generate well-characterized in vitro models for
(Sderberg et al., Nature Methods, 2006, 3(12): 995), research and drug screening aiming at a focused
utilizing pairs of antibodies to which DNA molecule have treatment depending on glioblastoma subtype.
been attached, targeting the interacting proteins or PTM.
Proximal binding of such antibodies templates the 7.2.3 Knowledge sharing: Sample analysis (Technologies)
creation of a circular DNA molecule that subsequently
can be amplified by rolling circle amplification (RCA) and SciLifeLab a national resource
detected by hybridization of fluorophore labeled probes. center for the analysis of large-
The assay facilitates visualization of multiple protein
interactions, or PTMs, with a single molecule resolution scale project
and may thus be valuable to evaluate communication Ulf Landegren & Maria Srby, The Science for Life
between individual cells in tissue sections. Laboratory (SciLifeLab), Uppsala University, Sweden
ABSTRACT
7.2.2 Knowledge sharing: Sample analysis (Technologies)
The Science for Life Laboratory (SciLifeLab) is a national
Human glioma cell cultures as a resource for large-scale biological and medical research.
new experimental platform The vision is to make SciLifeLab a center for high-
throughput bioscience - focusing on large-scale DNA
Karin Forsberg-Nilsson1, Irina Alafuzoff1, Tobias sequencing, expression analysis, protein profiling, cellular
Bergstrm1, Annika Hermansson1, Gran Hesselager2, profiling, bioimaging, advanced bioinformatics and
Yiwen Jiang1, Marianne Kastemar1, Anna Segerman1, systems biology. The SciLifeLab initiative spans four
Tatiana Tararuk1, Lene Uhrbom1, Bengt Westermark & universities and two sites, one in Stockholm and one in
Yuan Xie1 (1Department of Immunology, Genetics and Uppsala. The center combines advanced technical know-
Pathology, and Science for Life Laboratory, 2Department of how and state-of-the-art equipment with a broad
Neuroscience, Uppsala University, Sweden) knowledge-base in translational medicine and
ABSTRACT technology-driven molecular bioscience. SciLifeLab
allows combination of omics approaches for
Background: In vitro models of human glioma have integration of large-scale data generated in-house and
until recently relied on cell lines established already through similar efforts internationally.
during the 1960s and 1970s. These cell lines have in
common that they were explanted and maintained in SciLifeLab combines the efficient analysis of biomaterials
serum-containing medium, and thus exposed to a variety using new methods and technologies with valuable
of factors at undefined concentrations. biobank facilities and medical records. Sweden has a long
tradition of close collaboration between medical
Methods/approach: We establish human glioma cell research and the hospitals - a prerequisite for successful
cultures using stem cell culturing methods, and translational research. A center for technology-driven
hypothesize that these will be enriched for glioma- research with advanced infrastructure is key to benefit
initiating cells and retain the patients tumor signature. from this resource in translational medicine and
Fresh tumor samples from glioma patients are first accordingly SciLifeLab is well-placed to provide a
propagated as spheres, and in the second passage as platform for academic researchers in northern Europe,
adherent monolayer culture using serum-free conditions and also for life science industry and the health care
identical to those we use for normal neural stem cells. system as a whole
power. For a large study aimed at exploring weak effects,
7.3.1 Knowledge sharing: Data analysis the answer can have major implications for funding and
resources. Conventional approaches to estimate the
Do only healthy persons sample size required to achieve adequate power often
participate in population studies? fail to take into account some complex elements such as
the sensitivity and specificity of the assessment of binary
The LifeLines study outcomes and explanatory variables or the reliability of
Salome Scholtens & R.P. Stolk, University Medical the assessment of quantitative outcomes and explanatory
Center Groningen (UMCG), Department of variables. A failure to include these elements in power
Epidemiology/LifeLines, The Netherlands analyses at the design stage of a study may result in a
serious over-estimation of its true statistical power and a
ABSTRACT research platform that is critically underpowered when it
Background: LifeLines is a prospective population- comes to analysis. ESPRESSO (Estimating Sample-size
based study that will follow 165,000 persons for at least and Power in R by Exploring Simulated Study Outcomes)
30 years in a 3-generation design. Collected data include was developed to take into account those key issues and
life style factors, medical history, psychosocial complex elements hence allow for more realistic power
characteristics, medical examinations, and urine/blood analysis and sample size calculation in genetic association
measurements. All inhabitants of the Northern provinces studies.
of the Netherlands are invited to participate. Persons Method: ESPRESSO-forte uses a simulation based
with a disease or disability are not excluded from approach which as opposed to the closed form solutions
participation. However, selection based on current offered by conventional power and sample size
disorders may occur. calculators, allows for the high flexibility required to
Methods: We compared the prevalence of a number of include the complex elements already mentioned.
health outcomes based on preliminary data from Conclusion: ESPRESSO-forte has been recently
LifeLines with data collected by Statistics Netherlands. successively used to assess the statistical power of the
This agency yearly collects data on a number of life style Canadian Partnership for Tomorrow (CPT) project as a
and health outcomes in a random sample of the Dutch platform for research projects exploring quantitative
population by interview. These data are published per traits as outcomes given its likely definitive sample size.
province. The prevalences in LifeLines were standardized
by age and gender. The algorithm can be used by researchers involved in
designing and setting up studies to investigate the genetic
Results: Currently 84538 participants aged 18+ years and environmental basis of complex traits. In particular,
have been included in LifeLines. Mean age is 45 years it enables those designing large cohorts and biobanks to
(SD=12, range 18-93) and 59% of the population is better estimate the sample size required to achieve
female. The prevalence of diabetes (type 1 and 2) and adequate power. ESPRESSO-forte also allows funding
ever myocardial infarction were somewhat lower in bodies to verify the statistical power calculations put
LifeLines than in the general population in the same area, forward by researchers in their grant applications,
respectively 3.4% and 2.1% versus 4.0% and 2.2%. The thereby helping to ensure that resources are not wasted
prevalence of ever stroke was substantially lower (1.2% in underpowered studies.
in LifeLines versus 2.4% in general population).
Conclusion: Preliminary data shows that persons with a 7.3.3 Knowledge sharing: Data analysis
chronic disease are present in LifeLines but may be
underrepresented. Analyses of data on self-perceived Towards an intelligent framework
health, family disease history, and data from medical to catalogue and search biobank
records will give a more detailed insight in whether and
how selection has occurred based on the actual and (meta)data
perceived health status of the participants. How this Morris Swertz1, Despoina Antonakaki1*, Chao Pang1*,
selection might affect the associations between risk David van Enckevort2, Margreet Brandsma3,5, Martijn
factors and disease remains an important issue. Dijkstra1, Hans Hillege4, Members of5,6,7,8 (1UMC
Groningen, Dept of Genetics, The Netherlands, 2Netherlands
7.3.2 Knowledge sharing: Data analysis Bioinformatics Center, The Netherlands, 3Leiden UMC, The
Netherlands, 4UMC Groningen, Dept of Epidemiology, The
ESPRESSO-forte: A platform for Netherlands, 5BBMRI-NL, 6PSI, 7CTMM, 8BioSHARE)
power analysis and sample size *Contributed equally
calculations ABSTRACT
Amadou Gaye1, Prof. Paul Burton2 (1University of Background: Researchers now have access to many
Leicester, Health Sciences, United Kingdom, 2University of biobanks with large collections of deeply characterized
Leicester, Health Sciences and Genetics, United Kingdom) individuals. However, use in genetic or epidemiological
analyses requires pooling into even larger sets.
ABSTRACT Biobankers need catalogues to find biobanks available
Background: A critical question to answer at the and evaluate available (meta)data. The Dutch biobank
design stage of large scale studies and biobanks is what community united in BBMRI-NL picked up this challenge
sample size is required to achieve adequate statistical together with CTMM, PSI, NBIC, BioSHARE and P3G.
Methods: First we classified the catalogues needed in subset have known phosphorylation sites. In the list of
increasing levels of functionality: (1) just a list of post-mortem changing proteins, 84% contain at least one
biobanks, (2) incl. available data items, (3) incl. aggregate known phosphorylation site. This clear over-
information and (4) incl. individual level data. Then we representation of phosphorylation sites, compared to a
created a minimal object model to uniformly capture and total average of 30%, indicates that proteins, and in
share this data (observ-om.org). It uses: protocols particular PTMs, change substantially post-mortem.
(questionnaires, lab), features (measurements), targets
(individuals, cohorts) and values. Also we created a Conclusion: When focusing on changes in protein
toolkit to retrieve terms from public (e.g. Bioportal) and phosphorylation states, quantitative analyses are
local (owl) ontologies (ontocat.org). Finally, we hampered by inadequate suppression of enzymatic
implemented all four catalogue levels on one software activity causing both dephosphorylation and
platform (molgenis.org) so that components can be hyperphosphorylation. We conclude that it is highly
reused easily. important to quickly inactivate both phosphatases and
kinases to ensure reliable measurement of
Results: We created a level 1 catalogue of Dutch phosphorylation states without interference from post-
biobanks for BBMRI-NL listing 168 cohorts, main topics mortem events.
studied, main phenotypes, and main types of materials
available (bbmri.nl). We created a level 2 catalogue of References:
1Skold,Proteomics 2007
~1000 available data items and protocols used for 2Scholz, Molecular & Cellular Proteomics 2011
LifeLines (lifelines.net). Also we created level 4 3Goodwin, Proteomics 2010
4Robinson, Proteomics 2009
catalogues for LifeLines and other studies as portal to 5Hunsucker, Jrnl of Neurochemistry 2008
speed up research incl. analysis tools and R. Currently, 6Jackson, Proteomics 2006
we are exploring ontologies as tool to better search by 7Petrak, Proteomics 2008
smart query expansion and to shortlist possible 8Wang, Proteomics 2009

9Smejkal, Electrophoresis 2011
matching data items across BioSHARE biobanks.
7.4.1 Knowledge sharing: Sample analysis 7.4.2 Knowledge sharing: Sample analysis
Rapid heat inactivation of Affinity proteomic analysis of

phosphatases and kinases is serum and plasma pre-analytical
essential for reliable conditions
measurement of phosphorylation Ulrika Qundos1, Mun-Gwan Hong1, Gunnel Tybring2,
Mark Divers2, Mathias Uhlen1, Peter Nilsson1 and Jochen
states without interference from M. Schwenk1 (1Science for Life Laboratory, Biobank Profiling
Affinity Proteomics, KTH - Royal Institute of Technology,
post-mortem events Sweden, 2KI Biobank, Department of Medical Epidemiology
Beatrice Orback2, Katarina Alens2, Kim Kultima1, Mats and Biostatistics, Karolinska Institute, Stockholm, Sweden)
Born2, Marcus Sderquist2, Karl Skld2 (1Uppsala
ABSTRACT
University, Dept of Medical Sciences, Sweden, 2Denator AB,
Sweden) Background: The growing numbers of national and
international efforts to create large collections of
ABSTRACT
biological specimen in biobanks demand to understand
Introduction: Recent reports show that a group of the integrity of the samples stored therein. With blood-
protein and peptide biomarkers, regardless of tissue derived samples offering information on the individuals
origin or species, is often found expressed differentially health status, this minimally invasive sample type can be
in various disease states. In addition, we have, for some collected using collection procedures, which may affect
time, suspected an overlap between proteins commonly the bio-analytical outcome.
identified as changing in 2D proteomic studies and those
Methods/approach: Here, we investigated the effect of
found to change post-mortem. Proteins with one or
pre-analytical conditions between the sample collection
more phosphorylation sites are of particular interest
and storage of serum and plasma and determined the
since they appear to be over-represented in this group.
effects of exposure time and temperature on protein
Method: Data was drawn from a range of proteomic profiles generated by suspension bead arrays using direct
studies in which tissue samples were heat-stabilized [1-4] sample labelling approach1.
or snap-frozen [5-6] to create a list of 86 unique
Results: Our data showed that for the vast majority of
proteins reported to be changed post-mortem. The
the more than 300 targeted proteins included in this
protein list was compared with another list of 48
assay, neither altered profiles nor deviating inter-
proteins often found in 2DGE experiments when
individual variances were detected. Differences mainly
studying disease states [7-8]. Various estimations were
occurred in samples exposed to elevated temperature
made to investigate any apparent overlap of proteins, for
and over a longer time period. We identified one protein
example, by examining phosphorylation sites.
as a candidate marker of plasma EDTA integrity,
Results: Comparing the disease-changing proteins discriminating an extended exposure time of 36-hours
subset with the post-mortem changing proteins subset prior sample storage.
we found a match of 65%. When focusing on
phosphorylations, 81% of the disease-changing proteins
Lessons learned: Even though most protein profiles 7.5.1 Knowledge sharing: Ethics & regulation
remained unchanged, the altered level of the candidate
protein does exemplify that sample handling conditions
Uppsala Biobank Uppsala
prior storage are important. Our data thus confirms the University and Uppsala County
general assumption that both prolonged exposure time
and different temperatures between collection and Council come together to found a
storage should be avoided. common biobank infrastructure
Anna Beskow & Malin Engelmark (Uppsala Biobank
7.4.3 Knowledge sharing: Sample analysis representing Uppsala County Council and Uppsala University,
Sweden)
Implementation of Room
ABSTRACT
Temperature Technology for Bio-
Background: When Biobanks in Medical Care Act was
Sample Preservation Through taken into force 2003 research and healthcare principals
Effective Workflow in Sweden started to setup biobank organisations. In
Uppsala, a vast majority of the samples was collected and
Rolf Muller (Biomatrica, Product Development, US) stored within healthcare at Uppsala County Council
ABSTRACT while Uppsala University usually was the research
principal of publications based on biobank samples. It has
Background: The goal of building and maintaining a shown that vagueness around rights to samples can give
biobank or biorepository often involves comprehensive rise to conflicts.
sample collection and biobanking to identify and track
information by patient. Building a biobank requires a Methods/approach: The principals represented by
significant outlay of capital, logistics and monitoring. The Uppsala University hospital and Uppsala University
planning and science behind implementation of Room Faculty of Medicine decided to found a common biobank
Temperature sample preservation has been conducted at infrastructure in 2008 by initiating and invest in Uppsala
many biobanks and proves to be efficacious and cost Biobank. The principals believed in benefits gained from a
effective. Presented are case studies on how biobanks united organisation for all sample collections facilitating
are built from collection to banking all at ambient tracing, security and quality assurance and promoting
temperatures. The technology presented highlights how collaborations.
to implement processes, and strategies for the Results: Uppsala Biobank represents the only biobank
collection, processing, storage and distribution of of the principals and include all sample collections with
biospecimens to support future scientific investigation at biobank samples both for research and health care. The
ambient temperatures. main mission of Uppsala Biobank is to:
Methods/approach: We will present technologies and Administrate Uppsala Biobank
methods for storing, archiving and transporting a wide
range of biological samples, from purified gDNA and Establish, support and maintain a stable biobank
RNA, to more complex mixtures in blood, tissue and structure
cell lines at ambient room temperatures. The storage Obtain and supply high competence and tools to
technology is based on the natural principles of fulfill laws and regulations
anhydrobiosis (meaning life without water), a biological
mechanism employed by some multicellular organisms Perform services in relation to sample management
that enables their survival in stasis for >100 years, and and processing
synthetic chemistry.
The head of Uppsala Biobank is the biobank custodian
Results: Long term stability data for DNA of 30 years and every sample collection has a responsible person.
and RNA of 12 years (accelerated stability) will be The principals are represented in the Biobank council
presented as well as the progress into complex samples that meets four times per year.
and protein stabilization at room temperature. Our
Lessons learned: Uppsala Biobank as a center of
results will demonstrate the impact of our room
competence for biobanking and as an infrastructure for
temperature technology on the biobanking community in
medical research has so far been a success with a lot of
relation to sample quality and economics leading to
close contact with researchers and staff. This is an
sustainable sample management.
example of how a research and a health care principal
Lessons learned: The use of liquid and dry storage with common interest in biobanks can collaborate in a
products for collection, stabilization, shipping and successful manner. Both researchers and principals
storage of biospecimens will significantly decrease the benefit from having a neutral organisation that support
cost of biorepositories without a loss of analyte quality. and maintain a stable biobank organisation of high quality
Ambient stabilization of biospecimens drastically reduces protecting both principals interests.
the risk of failed repository responsibilities.
7.5.2 Knowledge sharing: Ethics & regulation 7.5.3 Knowledge sharing: Ethics & regulation
Banking on the future: some Were not in it for the money; Lay
lessons from the bio-banking peoples moral intuitions on
bubble commercial use of their biobank
Simon Woods (Newcastle University, PEALS (Policy Ethics Kristin Solum Steinsbekk, NTNU Norwegian
and Life Sciences Research Centre), UK) University of Science and Technology, Department of
Public Health and General Practice , Norway
ABSTRACT
ABSTRACT
Background: This presentation draws upon the
authors research experience, and experience as an Background: Commercial use of human biological
ethics committee member in the UK over a period of materials for financial gain has over the past decades
time in which there has been a changing legal, regulatory been viewed as morally challenging. Fears of
and ethical framework for biobanking. Biobanks have commodification of the human body are even manifested
existed for as long as there has been medical research in international and national policy documents,
but the past 10 years has seen a burgeoning of biobanks conventions and laws: The Council of Europe states that
as the potential for genetic (and other) biobank research Biological materials [of human origin] should not, as
has been realized. The position within the UK has been such, give rise to financial gain (Rec(2006)4).
influenced by scandal (Bristol and Alder Hey) as well as
pioneering and ambitious projects (UK Biobank,/ Stem Reaching overall goals of better diagnostics, therapeutics
Cell research). This paper draws attention to some of and prevention does, however, seem seems difficult
the issues, controversies as well as insights and without commercial involvement, in research biobanking,
advantages of the biobanking scene within the UK using at one stage or another. As biobanks thread these
examples from fetal tissue banking, brain tissue banking, troubled waters, what types of concerns do their
and biobanks for rare disease. contributors have? What grounds their perspectives?
How do they reason regarding the routes commercial
Methods/approach: The paper will be a bio-ethical use of these biobanks can take?
analysis of the biobanking raison dtre.
Methods: To try to answer these questions we used
Results: The paper will draw attention to some of the focus group interviews with Norwegian biobank donors.
strengths and weaknesses of the biobank regulation in Here we tried to identify lay peoples underlying
the UK. It will draw a distinction between biobanks that intuitions and morals concerning the commercial use of
are broadly focussed on public goods and those that are the Norwegian HUNT biobank (The HUNT study).
focussed on specific goods such as disease specific
biobanks and explore whether the ethical principles Results: Taken together our findings indicate that the
involved in each of these endeavours are similar or act of donation and the subsequent uses of the samples
different. belong to two different spheres. While concerns around
dignity and commodification were present in the first,
Lessons learned: The paper will conclude on a number injustice and unfairness were our informants major
of key areas related to biobanks requiring further moral concerns in the latter. In this way, the opposition
bioethical enquiry. towards commercial actors entering the field of research
biobanking was voiced in a nuanced way.
Conclusion: Our study suggests that it is possible to
render certain forms of commercial use of biobanks
ethically acceptable, although some contributors will
fundamentally oppose commercialization. The
acceptance of commercial use is highly depend on solid
framing of the activities including regulations which
hinder commodification of the human body and promote
communal not individual - benefit sharing.
POSTER SESSIONS
Sample analysis
8.0.1 Poster session on sample analysis
8.0.2 Poster session on sample analysis
Uppsala Bioresource - Healthy Proficiency testing program for
controls for research on systemic biorepositories
autoimmune diseases Francesca Poloni1, Garry Ashton2, Anne Mieke De
Karolina Tandre, Lars Rnnblom & Maija-Leena Wilde3, James Eliason4, Gunnel Tybring5, Domenico
Eloranta: Uppsala University, Medical Sciences, Coppola6, Elaine Gunter7, Fiorella Guadagni8, Sabine
Rheumatology, Sweden Lehmann1, Conny Mathay1, Olga Kofanova1, Yvonne De
Souza9, Kathi Shea10, James Douglas11, Michele Zink11,
ABSTRACT
Mark Sobel11, Fay Betsou1 (1IBBL, Luxembourg, 2Paterson
Background: Systemic autoimmune diseases, among Institute for Cancer Research, UK, 3Antwerp Hospital,
them the prototype disease systemic lupus Belgium, 4Great Lakes Stem Cell Innovati on Center, US,
5Karolinska Institutet, Sweden, 6Moffit Cancer Center, US,
erythematosus, SLE, are seemingly caused by interplay
7Specimen Solutions LLC, US, 8San Raffaele, Italy, 9UCSF, US,
between genotype and environment.
10Seracare, US, 11ASIP, US)
Approach: To meet the need for an extensive resource
of healthy controls for studies on systemic autoimmune ABSTRACT
diseases we set out to establish a permanent
Background: International Society of Biological and
bioresource of genotyped blood donors.
Environmental Repositories, ISBER, has developed a
Results: We have established a resource of 2000 Proficiency Testing (PT) Program for biorepositories in
genotyped healthy individuals, who can repeatedly serve partnership with the Integrated Biobank in Luxembourg,
as donors of cells for functional studies. IBBL. The PT Program allows biorepositories performing
quality control assays / characterization of the
Blood for genotyping and serum is collected from blood biospecimens to assess the accuracy of their testing and
donors, who agree to participate in research studies by to compare their results with those obtained in other
informed consent. Information on age, sex and smoking laboratories around the world.
habits is collected for the individual donors. The samples
are genotyped with the 200k Immunochip, Illumina For biorepositories that want to pursue accreditation,
Infinium. The data from these genotyped individuals are the ISBER PT Program will provide a necessary External
included as controls in genome-wide association studies, Quality Assessment tool.
allowing us to pinpoint the genetic polymorphisms that
All the Standard Operating Procedures have been
are critical for risk, and protection, for disease. The high
written according to the requirements of the
number of donors included give us the opportunity to
ISO17043:2010 norm, reviewed by the ISBER PT
explore even rare risk gene variants in genetic
Advisory Group and approved by the ISBER PT
association studies.
Coordinating Body. Specific software was configured for
We have ethical permission for repeated sampling of the needs of the biorepository PT Schemes. The first
individual donors, meaning that we can design cellular two Schemes that were launched in 2011 are "DNA
experiments with samples from individuals with a Quantification and Purity" and "RNA Integrity".
relevant genetic background. We call for buffy coats,
Results: The PT Program, which was successfully
containing the entire fraction of white blood cells from
performed during last quarter of 2011 with 32
450ml blood, from donors selected based on their
participants registered in the DNA Scheme and 24 in the
genotype.
RNA Scheme will open for the second round in
Lessons learned: The close collaboration between our September of this year. In addition to the DNA
research department and the Uppsala Blood Transfusion Quantification and Purity and RNA Integrity the
Center and their donors is gratefully acknowledged. Schemes will include also Cell Viability, Tissue
Histology and Tissue Antigenicity.
The large number of participating healthy individuals add
quality as we can design control groups matching various
patient cohorts.
8.0.3 Poster session on sample analysis 8.0.4 Poster session on sample analysis
Sample analysis for quality Study logistics in Janus Serum
control of bronchial lavage Bank research projects
Koh Furuta (National Cancer Center Hospital, Division of Marianne Lauritzen, Randi Gislefoss & Hilde Langseth
Clinical Laboratories, Japan) (Cancer Registry of Norway, Department of Research, Janus
Serum Bank, Norway)
ABSTRACT
ABSTRACT
Background: The NCCH (National Cancer Center
Hospital) Biobank was established in October, 2002. Background: The Janus Serum Bank is a population-
Since then we have stored up to 800,000 post clinical based research biobank with pre-diagnostic samples
test samples. Currently stored samples in our biobank from about 317 000 Norwegians, collected in the time
are plasma, serum, and cerebrospinal fluid. These period 1972-2005. By Dec 2009 52 500 of the donors
samples are obtained from patients for the purpose of had developed cancer. The aim of the present work is to
their clinical implications. Because of the current rapid communicate the importance of study logistics in
progress in molecular detection of mutation responsible biobank-based research.
for lung cancer, we are requested to store bronchial
lavage for the purpose of molecular diagnoses of genes: Methods/approach: To ensure quality and success, we
such as EGFR, KRAS, BRAF, ALK, RET, and ROS. In this always focus on these four important aspects in project
sense we need to establish a reliable sample analysis management:
method for quality assurance of stored bronchial lavage. Scientific evaluation: Applications to Janus are
Based on the information of molecular diagnoses, a evaluated by an independent, multi-disciplinary scientific
personalized targeted drug is prescribed. Therefore, the board. Priorities are made to ensure future research
information regarding sample quality is critical. possibilities are not impaired, including stringent
Methods/approach: Right after the bronchoscopy assessment to minimize sample consumption.
procedures, the inserted probes were washed with Study design: Most studies in Janus Serum Bank are
normal saline solution. These lavages contain tumor using a nested case-control design. The large number of
cells, and can be utilized for various further analyses, available healthy controls enables to set up robust
such as cytology, IHC, FISH, mutation analysis, and studies with adequate statistical power to demonstrate
sequencing. In this study we focused on molecular contrasts in exposure and to address the long-term
diagnostic procedures, especially mutation analyses. effect of past exposure, individual susceptibility and time-
After receiving lavage, we divided samples into four. By lag effects.
using two parts of samples, we extracted DNA, and
RNA. By using extracted DNA, we performed PCR by Selection of cases and controls: The cases are
using EGFR primers. Then we evaluated the melting identified by linking the cohort to the Cancer Registry of
curves by a LightScanner (Idaho Technology) platform. Norway. The control group provides an estimate of the
By using extracted RNA, we performed RT-PCR by exposure distribution in the source population and is a
using LAMP-1 (housekeeping gene) primers on a substitute for the denominators of rates or risks.
LightCycler (Roche Applied Science) platform. The Common matching criteria are sex, age, collection date,
LightScanner and LightCylcer allow us to monitor real county of residence and sample storage time.
time evaluation of analyses. So we can evaluate the Code-keeping system: Quality in all phases includes
sample quality in a relatively short time. the laboratory analysis to be carried out blinded to avoid
Results: We examined 20 cases of bronchial lavage, and potential biases. The case-control status is revealed after
so far we have confirmed all the samples can be analyzed laboratory analyses are finalized and the results are
by LightScanner and LightCycler. returned to Janus. This code-keeping system ensures a
high degree of confidentiality: participants identities are
Lessons learned: There are a lot of methodologies for never disclosed.
evaluation of sample quality of DNA and RNA. Among
them, our current procedure with the LightScanner and
LightCycler is fit for our laboratory. We believe it is very
important to set up standard methodologies for
evaluation of samples before starting storage of new
types of samples.
8.0.5 Poster session on sample analysis 8.0.6 Poster session on sample analysis
Sources of pre-analytical Measurement of multiple trace
variations in DNA extracted from elements in blood samples using
blood samples: analysis of 50000 high resolution inductively
DNA samples in EPIC (European coupled mass spectroscopy (HR-
Prospective Investigation into ICP-MS)
Cancer) Tore Syversen & Lars Evje (Norwegian University of
Science and Technology, Department of Neuroscience,
Elodie Caboux, Christophe Lallemand, Gilles Ferro,
Norway)
Bertrand Hmon, Maimuna Mendy, Sabina Rinaldi,
EPIC collaborators, Pierre Hainau (International Agency ABSTRACT
For Research on Cancer Department: Laboratory Services and
Biobank Group, France) Background: Through the HUNT3 Biobank we have
available ca. 27.000 full-blood samples collected using
ABSTRACT special trace element-free sampling. Five ml of blood was
collected and dispensed as 0.75 ml aliquots before being
Background: The European Prospective Investigation
stored at -80C. One sample is stored at liquid nitrogen
into Cancer and nutrition (EPIC) is a long-term, multi-
temperature. After acid digestion we have analyzed ca.
centric prospective study in Europe investigating the
70 trace elements in a test run of 750 samples from
relationships between cancer and nutrition. This study
healthy persons. The blood sample volume analyzed was
has served as a basis for a number of Genome-Wide
0.25 ml.
Association Studies (GWAS) and other types of genetic
analyses. Methods/approach: Acid digestion prior to analysis is
a time consuming process and we tested methods to
Method: Over a period of 5 years, 52,256 EPIC DNA
improve this procedure while at the same time
samples have been extracted using an automated DNA
preserving detection levels and analytical precision. For
extraction platform. Here we have evaluated the pre-
trace element analysis a Thermo Scientific ELEMENT2
analytical factors affecting DNA yield, including
instrument was used. Samples were acid digested in a
anthropometric, epidemiological and technical factors
Milstone UltaClave.
such as center of subject recruitment, age, gender, body-
mass index, disease case or control status, tobacco Results: The protocol we developed was designed for
consumption, number of aliquots of buffy coat used for very mall blood sample volumes (0.25 ml) and the data
DNA extraction, extraction machine or procedure, show that for some ultratrace elements the element
DNA quantification method, degree of haemolysis and content in such a small blood sample is below the
variations in the timing of sample processing. detection level. The data is still being analysed. We will
present our analytical protocol, data acquisition and
Results: We show that the largest significant variations
storage routine as well as a range of preliminary data
in DNA yield were observed with degree of haemolysis
obtained. The data on trace elements will, in a later
and with center of subject recruitment. Age, gender,
study, be correlated with health and environment
body-mass index, cancer case or control status and
indicators available from the HUNT3 databank.
tobacco consumption also significantly impacted DNA
yield. Feedback from laboratories which have analyzed
DNA with different SNP genotyping technologies 8.0.7 Poster session on sample analysis
demonstrate that the vast majority of samples
(approximately 88%) performed adequately in different Creating high quality tissue
types of assays. To our knowledge this study is the
largest to date to evaluate the sources of pre-analytical
microarrays using manual and
variations in DNA extracted from peripheral leucocytes. automated systems within the
Conclusions: The results provide a strong evidence- Human Protein Atlas
based rationale for standardized recommendations on
blood collection and processing protocols for large-scale Caroline Kampf, Gustafsson S, Olsson I-M & Ponten F
genetic studies. (Uppsala University, Science for Life Laboratory, Department
of Immunology, Genetics and Pathology, Sweden)
ABSTRACT
Background: The tissue microarray (TMA) technology
provides the means for high-throughput analysis of
multiple tissues and cells. The technique is used within
the Human Protein Atlas for global analysis of protein
expression patterns in normal human tissues, cancer and
cell lines. Over 1500 TMAs and 200 cell microarrays
have been generated within the Human Protein Atlas.
Methods/approach: Here we present the assembly of
1 mm cores, retrieved from microscopically selected
representative tissues, into a single recipient TMA block downstream processes, such as PCR based STR analysis,
using one manual (Beecher MTA-1) and one fully deep sequencing on an Illumina platform, and gene copy
automated TMA system (ATA Grandmaster). number analyses using microarrays. The RNA has
performed well in RT-PCR analyses and maintains
Results: The main advantage of a fully automated integrity upon storage.
system is that it is faster and could be left fully prepared
whereas the manual arrayer is slower and dependent on Lessons learned: Sample acquisition and preparation is
lab technicians. On the other hand the manual system becoming the most time consuming step in large scale
gives the user more control and precision when genomic analyses of solid tumours. This novel
punching. The pressure needed for punching could vary technology enables the simultaneous processing of many
depending of the hardness of the tissue. The different types of tissue samples in the pathology biobank
disadvantages using automated systems are that valuable workflow with a time and cost reduction for the user.
and scares material could be destroyed and the control Advantages of the automated serial DNA and RNA
of the punching process is lost. Certain tissues (skin, extraction procedure presented here include (1)
bone marrow, brain and breast) render sectioning of the recovery of different nucleic acids from the same cells of
TMA difficult due to the effect of differences in tissue a normal tissue or tumour; (2) reduction of reagents by
texture e.g lipids and hardness. By composing the TMA a common lysis step and use of the same buffers in wash
wisely the ability to acquire high quality sections could and elution and (3) recovery of long DNA strands
be increased. suitable for rearrangement analyses and whole genome
sequencing. The quality of input material in the
Lessons learned: Antibody-based proteomics extraction process is critical and depends equally on
employing TMA technology and IHC is a powerful section preparation and correct storage.
strategy for generating protein expression data on a
large scale. One advantage of using TMAs is that material
from large cohorts can be analyzed at one time, both 8.0.9 Poster session on sample analysis
saving valuable biological material and ensuring more
reproducible experiments. Moreover, the use of TMA
Human cell line authentication
technology saves on reagent costs and laboratory using STR genotyping
processing time. By using different TMA systems
depending on tissue composition and quality you can Eric B. Vincent, Jonelle Thompson, Robert S. McLaren,
increase the probability to produce high quality TMAs. It Tim Sheehy & Douglas R. Storts: Promega
is recommended to group tissues with similar features Corporation, Genomics, USA
e.g. lipid rich tissue into one TMA, enabling high quality ABSTRACT
sections.
Background: Cell line misidentification has been
identified as a major concern affecting scientific research.
8.0.8 Poster session on sample analysis As reports of misidentification have surfaced, there have
Automated serial extraction of been calls for greater diligence in characterizing the cell
lines prior to publication. The ATCC Standards
DNA and RNA from biobanked Development Organization has released a consensus
tissue specimens standard for human cell line authentication based upon
the use of short tandem repeat (STR) loci
Lucy Mathot & Tobias Sjblom (Department of (Authentication of Human Cell Lines: Standardization of
Immunology, Genetics and Pathology, Uppsala University, STR Profiling (ASN-0002). We have developed new
Sweden) protocols/systems for generating STR profiles from
DNA purified from cell lines, as well as direct
Background: With increasing biobanking of biological
amplification methods from cells immobilized on
samples, methods for the large scale robust extraction of
transport matrices (e.g., FTA cards).
nucleic acids are in great demand. The lack of
automation-friendly techniques designed specifically for Methods: Genomic DNA was extracted and purified
extraction from tissues is a bottleneck in downstream from human cell lines using the Wizard SV Genomic
genetic analyses. We have therefore developed an DNA Purification System (Promega) and genotyped with
automated procedure for tissue homogenisation and several different PowerPlex STR Systems (Promega),
serial extraction of pure DNA and RNA. or amplified directly from cells deposited on FTA
cards (GE Whatman). The amplification products were
Methods/approach: We devised a process for serial
separated on a variety of Applied Biosystems Genetic
extraction of nucleic acids from the same frozen tissue
Analyzers and allele calls were made using
sample based on magnetic silica particles with differential
GeneMapper ID Software.
affinities for DNA and RNA. The method uses a
chaotropic lysis buffer to disrupt the tissues and to Results: STR genotype profiles generated using purified
facilitate binding of nucleic acids to the solid support. DNA or direct amplification from card punches yielded
We used a Tecan Freedom Evo platform to serially full, concordant profiles using several different STR
extract both DNA and RNA from 96 frozen tissue systems when comparing 50 different human cell lines.
biopsies at a time in a fully automated process. The PowerPlex STR Systems used in this study contain
primers for amplifying 8-17 STR loci, yielding matching
Results: Six hundred fresh-frozen tissue samples have
probabilities of 2 x 108 to >1021.
been extracted. The nucleic acids obtained were of high
quality and suitable for use in both traditional and novel
Conclusions: Confirmation of cell line authenticity
eliminates the wasted time and expense of performing
research studies on misidentified cell lines. STR
genotyping analysis using the PowerPlex STR Systems,
when accompanied by phenotypic characterization, is a
cost-effective tool for confirming the identity of human
cell lines.
Collection & storage

Lessons learned: Our vision is that the IMM Biobank
9.0.1 Poster session on collection & storage will be an important tool for promoting health and new
IMM-Biobank - the first year opportunities for cooperation between academic
researchers and collaborations with the pharmaceutical
Joo Eurico Fonseca, Joana Caetano-Lopes & ngela industry.
Afonso (Instituto de Medicina Molecular, Faculdade de
Medicina da Universidade de Lisboa, Portugal)
9.0.2 Poster session on collection & storage
ABSTRACT
Biobanking of first trimester
Background: Biobanks are increasingly recognized as
crucial resources for health research. The Instituto de material to study immunity and
Medicina Molecular (IMM) Biobank is based in Lisbon, inflammation in pregnancy
Portugal and is integrated in the Academic Medical
Center of Lisbon, which brings together on the same Astrid Solberg Gundersen1, Bente Skei1, Line
campus a research institute (IMM), the university medical Haugstad Tangers1, Guro Sannerud Stdle1, Guro
school and a teaching hospital. Dalheim Olsen1, Anne Sofie Engns2, Jo Inge Nersveen2,
Kristen Hammervold2, Merete Myklebost2, Rigmor
Methods/approach: Since the creation of IMM Biobank Austgulen1 & Ann-Charlotte Iversen1 (1Department of
in May 2011, a great effort has been made to offer high- Cancer Research and Molecular Medicine, Faculty of
quality services. The first steps of the implementation Medicine, Norwegian University of Science and Technology
process were to optimize laboratory facilities and to (NTNU), Trondheim, Norway, 2Department of Gynecology,
standardize operational procedures, as well as legal and St. Olavs Hospital, Trondheim University Hospital, Trondheim,
ethical aspects. The IMM Biobank has already collected Norway)
more than 10,000 samples from 1050 individuals. Our
Biobank involves signed collaborations mostly with ABSTRACT
research groups, Hospitals and Scientific Societies, such
Background: The Research Group of Human
as the Portuguese Rheumathology Society. The samples
Reproduction focuses its research on underlying
are structured into 5 different collections: the
inflammatory processes of normal pregnancy and
rheumatology collection (6790 samples), the
pregnancy complications, such as preeclampsia (PE).
neurotumors collection (56 samples), the neurosciences
collection (1203 samples), the cardiovascular collection To gain knowledge about immunity and inflammation in
(324 samples) and the endocrinology collection (1680 pregnancy, biological material from first trimester
samples). In addition, the IMM Biobank has also a service pregnancies is studied. Optimal immune interaction and
for DNA and RNA extraction from tissue, blood and tolerance between maternal and fetal cells are essential
other body fluids, evaluation of its quality, data for a successful pregnancy, and analysis of immune
management and general support for research projects. responses and inflammatory mechanisms utilized at the
Samples will be available to the scientific community in maternal-fetal interaction site during placentation is
order to promote national and international cooperation therefore important.
on translational research.
Method: Women undergoing ab.prov. at gestational
Results: The IMM Biobank works in accordance with week 6-12 at St. Olavs Hospital, are asked to participate
European and Portuguese regulations and allows the in the project. Informed and consenting women are
study of the pathogenesis of multiple diseases with high recruited at the Section of Gynecology and after the
impact on human health improving the identification of surgical procedure, placental tissue and blood are
new prognostic and diagnostic tests and new therapeutic collected for current and future use. The procedure of
targets. collection consists of several steps, including surgery,
biobanking, tissue separation, cell isolation, cultivation
and molecular analysis.
Results: In vitro-studies of isolated first trimester 9.0.4 Poster session on collection & storage
trophoblasts have e.g. revealed a broad expression of
immune and inflammatory receptors indicating active
participation in placental immune responses and Comparison of tissue fixation
inflammation during pregnancy. methods for detection of single
Conclusion: An optimal process from inclusion of transcripts in situ
women to biobanking and isolation of placental cells
depends on good collaboration between the clinical Elin Lundin, Ola Sderberg & Mats Nilsson (Uppsala
department and the research group, and is essential to University, Department of Immunology, Genetics and
accomplish good quality translational research. Pathology, Sweden)
ABSTRACT
9.0.3 Poster session on collection & storage Background: The ongoing construction of biobanks is
calling for reliable methods for storage and conservation
The New Brain Bank at of biological specimens. The traditional way of storing
Karolinska Institutet and preserving tissue specimens has been to fix tissues in
buffered formalin and then embed it in paraffin (FFPE).
Marie Fallstrm, Mimi Westerlund, Anna Sandebring, The formalin preserves the tissue morphology by cross-
Inga Volkmann, Bengt Winblad, Caroline Graff (The linking of biomolecules which leads to degradation and
Brain Bank at Karolinska Institutet, Sweden) modification of nucleic acids. As a consequence
molecular methods such as PCR work with less
ABSTRACT
efficiency. Lately, another approach for storage of tissues
The Brain Bank is a center for clinical and experimental has been to snap-freeze them and then section the
neuropathology. Our priority is to provide services for tissues in a frozen state. Molecular methods work more
brain donation as well as distribute brain tissue for efficiently on fresh frozen specimens but the morphology
research. Another priority is to contribute to our is not preserved to the same extent as in FFPE tissue.
understanding of brain diseases by translational genetic Qiagen provides PAXgene Tissue System which
research of neuro-degeneration. The Brain Bank at KI efficiently should preserve the tissue morphology
started in 2011 with the aims to increase awareness of without the destructive cross-linking and degradation of
the usefulness of post-mortem neuropathological biomolecules.
examinations of human brain diseases and to increase
Methods: We have developed a method for detection of
the use of human brain tissue in neuroscience. The Brain
single transcripts in situ and will use this method to
Bank at KI currently holds more than 800 formalin fixed
evaluate PAXgene Tissue System. By first converting
and 200 frozen brains mainly from patients with
mRNA to cDNA using LNA primers the cDNA strand
dementia. Suitable analysis methods which can be applied
will be anchored to the mRNA. Subsequently the cDNA
to the material are for example immunohistochemistry,
can be targeted and detected by target primed rolling
Western blot, in situ-hybridization, mass spectrometry
circle amplification resulting in a localized detection of
and enzyme-linked immunosorbent assay (ELISA). We
single transcripts. By detection of single transcripts in
can for this purpose provide management of brain
situ we are planning to analyze tissues from breast,
donations such as a system for patient information and
colon, duodenum and spleen and compare the
informed consent, the infrastructure to register, follow-
performance of PAXgene Tissue System to snap-freezing
up and handle donations, and telephone- and
and to the more traditional FFPE approach.
transportation services 24-7. In addition we can provide
neuropathological examination and diagnosis, sampling Results and conclusion: Results from our study will
and storage of frozen and formalin fixed brain tissue as provide guidance in what methods to choose when
well as distribution of brain tissue for research. Our storing tissue specimens in biobanks to get the most out
future goal is to expand the material and include patients of the sample material upon later examination. If the
with neurodevelopmental, psychiatric and PAXgene Tissue System performs better in terms of
neuroinflammatory diseases as well as neurological morphology and biomolecule preservation, it could
controls. To achieve this, we need new collaborators to improve the storage conditions for samples in biobanks.
reach the donors.
9.0.5 Poster session on collection & storage 9.0.6 Poster session on collection & storage
Optimized collection and storage New innovative technology in the
of research samples from field of repository of cervical cell
surgical specimens samples by liquid based cytology
Jostein Halgunset1, Haakon Skogseth1 & yvind Joakim Dillner & Nasrin Perskvist (BBMRI.se, Karolinska
Mikkelsen2 (1Norwegian University of Science and Institutet, Sweden)
Technology (NTNU), Department of Laboratory Medicine,
Childrens and Womens Health (LBK), Norway, 2Regional ABSTRACT
Biobank of Central Norway, Norway) Background: The Swedish national biobanking
ABSTRACT infrastructure, BBMRI.se (BioBanking and Molecular
Resource Infrastructure of Sweden), has initiated a
Background: Surgically removed tissue material is a project for the improvement and national harmonization
useful resource for research into pathogenetic of biobanking procedures in clinical cytology. In Sweden,
mechanisms, disease markers and prognostic factors, and cervical screening takes place every three to five years
new therapeutic targets. Further advancement of between the ages of 23-60, primarily using cytological
medicine will depend on access to well preserved procedures followed by HPV testing. Liquid-based
samples, so systematized collection is highly prioritized. cytology is the norm.
Collection and storage must deal with diverse challenges. Methods: Cervical cells are collected into a
Organs are heterogeneous and structured, so samples preservative medium in bar-coded glass vials and sent for
should include both diseased and healthy tissue, to diagnosis. In our new process a portion of the cell
permit later identification and subsampling of areas with suspension is transferred to a microtitre plate format
specific morphology. Samples should be useful in the with removable tubes marked with 2D-matrix codes.
widest possible array of analytical platforms, even future This can be done very efficiently with a liquid handling
technologies. The logistics must be streamlined and robotic station. The samples are stored at -25C.
efficient and well integrated into the clinical work-flow,
and the removal of material for research must never Results and conclusions: The preservative medium
hamper diagnostic or therapeutic procedures. does not freeze at this temperature, which is a significant
advantage for cytodiagnosis. The sample and data flow is
Methods/approach: Within minutes of removal the fully tracked with a commercial Laboratory Information
specimen is cut with a custom-made, double-bladed Management System (LIMS) and provides a robust
knife, producing a tissue slice of thickness 2 mm. After platform for sample management and compliance with
photography the slice is quickly frozen by clamping national regulation and ethical rules.
between two spring-loaded metal blocks, precooled in
liquid nitrogen, and transferred to a freezer. The
remaining specimen is processed for routine histology, 9.0.7 Poster session on collection & storage
two slides being made from the faces immediately Durrer Center for Cardiogenetic
adjacent to the frozen slice. This permits the exact
localization of any microscopically identifiable feature, Research biobanking
which can then be subsampled using a cylinder bore, J.F. Hermans-van Ast1, A.V. Postma1,2, E.P.A. van
while the slice is kept deep frozen, lying flat on a metal Iperen1,3, C.R. Lurks1, M.M. Kerssenberg1, A.H.
work-bench cooled with liquid nitrogen. The rest is Zwinderman1,3, J.P. van Tintelen1,5, G. Pasterkamp1,6 , P.J.
returned to the freezer. Lansberg1,4 (1Durrer Center for Cardiogenetic Research/ICIN
During cutting the specimen is kept stabilized in a Utrecht, the Netherlands; Departments of 2Heart Failure
specially designed holder, so with a few models we Research Center, 3Clinical Epidemiology, Biostatistics and
accommodate a wide variety of different organs and Bioinformatics, 4Vascular Medicine, AMC, the Netherlands;
tissues. Department of 5Clinical Genetics, UMC Groningen, the
Netherlands; Department of 6Cardiology, UMC Utrecht, the
Results: Subsamples have been successfully used for Netherlands)
frozen sections, and are well suited for genomic and
transcriptomic analysis, proteomics, and metabolomics, ABSTRACT
thus permitting an integrated approach. Background: Durrer Center for Cardiogenetic
Lessons learned: Optimization of the biobanking Research is a National collaboration of the Dutch
procedure is worth the effort. academic cardiology centers and clinical genetics
(UMCs). It is a self-governing organisation within the
Interuniversity Cardiology Institute Netherlands (ICIN)
located at the AMC in Amsterdam. The Durrer Center
facilitates autonomous and secure storage of both
samples and data collected from patients as well as tools
for logistic support, legal-ethical advice, data
management, molecular biology and bio statistical
analysis.
Methods/approach: As a self-governing nonpartisan including gender identification, using the PowerPlex16 kit
and scientific organization, the Durrer Center seeks to (Promega).
vitalize collaborations between individual researchers
and the UMC's in the fields of cardiology, clinical Results: To date, 373 of the 380 samples have been
(molecular) genetics and bioinformatics. The core tested. Three samples (0.8 %) gave inconclusive results
activity centers on biobanking; providing high quality as more than one DNA profile were found in the
infrastructure, services and tools to collaborating samples. They will be retested for confirmation. The
researchers. results from the remaining 370 samples proved correct
gender and correct mother/child heritability.
Results: At the moment Durrer Center is the
designated biobank for 7 ongoing (multi center) projects Lessons learned: The preliminary results suggest a
in the Netherlands. Additionally samples and/or data of sample mix-up of 0.8 % in the MoBa cohort and
13 (multi)center studies are stored at Durrer Center. It correspond to the earlier observations. Any observed
is the preferred biobank for CVON (CardioVasculair sample mix-up was expected to be caused by
Research the Netherlands) and ICIN projects and registration errors, but sample contamination, probably
collaborates with national and international partners due to mixture of samples during DNA extraction, is
such as CTMM (Center for Translational Molecular more likely to be the cause. This stresses the need for a
Medicine), PSI (String of Pearls Institute), BBMRI and closer control of the procedures, e.g. DNA extraction.
A*STAR (Singapore).
Lessons learned: The Durrer Center has gained an 9.0.9 Poster session on collection & storage
authoritative and leading role in the handling and MIABIS Minimal Information
organization of fractionated and scattered stored
samples plus the accompanying data in the Netherlands. About Biobank data Sharing
The Durrer Center combines existing cohorts and Roxana Merino Martinez1, Mathias Brochhausen2,
provides a web based portal to exhibit available Martin Fransson1, Mikael Eriksson1, Maria Hortlund1,
collections as well as a guaranteeing secure, independent Sanela Kurtovic1 & Jan-Eric Litton1 (1Karolinska Institutet,
and high quality storage. MEB, Sweden, 2University of Arkansas for Medical Sciences,
USA )
9.0.8 Poster session on collection & storage ABSTRACT
Frequency of sample mix-up in In compliance with the aim of BBMRI to harmonize
The Norwegian Mother and Child biobanking across Europe, we have developed MIABIS to
facilitate data discovery at the aggregate level. An effort
Cohort Study (MoBa) is ongoing to provide a representation of MIABIS in
Trine Waagsb Skjerden1, Liv Paltiel1 & Anita OWL2 to implement informatics models for biobank
Haugan2 (1Norwegian Institute of Public Health, Division of data sharing and enable ontology-assisted querying.
Public Relations and Institute Resources, Norway, 2Norwegian Background: During BBMRI preparatory phase, a
Institute of Public Health, Division of Epidemiology, Norway) minimum attribute list representing biobanks
ABSTRACT information was designed. The list included information
at the sample and subject levels leading to the need of
Background: Sample mix-up can occur at all levels of implementation of processes for privacy protection.
operation during the pre-analytical phase, even with
standardized operating procedures in place. In MoBa, Methods/approach:
which is a large cohort study, blood samples from about Attributes included after consulting experts and
270.000 participants (mother, fathers, and children) were The National Board of Health and Welfare in
collected at more than 50 hospitals in Norway from Sweden
1999-2008. All samples were sent to the central Biobank
for processing and storage. Based on two earlier Implementing the data set in a pilot project. 30
observations, the sample mix-up frequency in MoBa is Principal Investigators and biobank experts
suggested to be about 1%. To further determine the answered the questionnaire leading to further
frequency of sample mix-up in the cohort, a subset of improvements of the data set
DNA samples was tested for gender identification and The attribute descriptions defined in accordance
heritability by comparing the analytical results to the with epidemiological literature.
recorded information in the MoBa LIMS.
Discussions with biobank IT experts regarding the
Methods: Using the binomial test with an estimated benefits of implementing MIABIS in their LIMS
mix-up rate of 1 % a total number of 380 MoBa DNA
samples were included in this study. Both gender and Web Ontology Language (OWL) for
heritability were analysed in randomly selected blood implementation
sample sets from 99 women, both during pregnancy and
Basic Formal Ontology (BFO) to facilitate re-use
after given birth, and their children (umbilical cord
and harmonization across ontologies
blood). In addition, a subset of 83 unrelated paternal
blood samples was included for gender analysis only. All Re-use of preexisting ontologies
samples were analysed for minimum 24 genetic markers
Adoption of a realist perspective in the ontology
development
Results: The MIABIS consists of 52 attributes. Currently, the Canine Biobank contains about 35 000
samples from 7 500 individual dogs. More than 100
BBMRI.se is creating a National register about studies different dog breeds are represented in the biobank and
and sample collections based on MIABIS to raise with phenotypes representing about 50 different
awareness about sample availability for potential diagnoses. With the current rate, we expect that 2000-
scientific collaborations. 4000 samples from 1000-2000 dogs will be added
BBMRI.se is implementing MIABIS on a Wiki-platform to annually and this will provide a unique resource for
establish a standard vocabulary within the European genetic studies on inherited canine diseases and other
BBMRI project. It contains guidelines on how to complex traits.
implement MIABIS in a LIMS. The BBMRI Biobank
Lexicon is incorporated and translated into multiple 9.1.2 Poster session on collection & storage
languages.
The semantic representation of MIABIS has been created
SLU SciLifeLab Biobank An
in two resources: the Ontology of Biobank Datasharing animal plant and microbe
(OBD) and Ontologized MIABIS (OMIABIS).
biorepository
Lessons learned: Designing MIABIS is an iterative
Lina Strmstedt & Susanne Gustafsson (Swedish
process that requires the expertise from several areas.
University of Agricultural Sciences, Sweden)
The identification of appropriated use cases is not an
obvious task and is a key factor in finding relevant ABSTRACT
entities and attributes. Structuring MIABIS according to
an ontology opens many doors to the informatics Many domestic plant and animal genomes have been
integration of biobank activities. sequenced today and animals are commonly used as
model organisms for human disease. We aim to establish
a Plant, Animal and Microbe Biobank as a national
9.1.1 Poster session on collection & storage resource for biological research and as a service for the
research community.
The Canine Biobank, a part of
Animal biobanking offer additional complexity with
SLU SciLifeLab Biobank regards to sample handling and data compared to human
Susanne Gustafsson1, Lina Strmstedt1, Kerstin biobanking. Sample quality, handling procedures, storage
Lindblad-Toh2,3, Cecilia Johansson2, Gran Andersson1, conditions, shelf life and DNA extraction success rate
ke Hedhammar4, Sofia Mikko1, Tomas Bergstrm1 vary between species and data collected from different
(1Department of Animal Breeding and Genetics, Science for species are often complex in terms of animal life data
Life Laboratory Swedish University of Agricultural Sciences (weight, age, growth rates), anatomy (wings, horn, tail),
(SLU), Uppsala, Sweden, 2Department of Medical production levels (milk, meat, egg), and the level of
Biochemistry and Microbiology, Science for Life Laboratory, detailed information with regards to environmental
Uppsala University, Uppsala, Sweden, 3Broad Institute of MIT factors (activity, feed intake) as well as genetic factors
and Harvard, Cambridge, MA, USA, 4Department of Clinical are often normalized in animal housing compared to
Sciences, Science for Life Laboratory, Swedish University of human data. In human medicine, workflows for
Agricultural Sciences, Uppsala, Sweden) biobanking of routine samples already exist within the
hospital setting. This is not yet the case for animal
ABSTRACT hospitals and is currently done through collaborations
The Canine Biobank is a collaborative project between between specific researchers and veterinarians. In
the Swedish University of Agricultural Sciences (SLU) addition, sample collections of domestic animals have to
and Uppsala University. It is an integrated part of the take place in the field, which requires portable sample
SLU Science for Life Laboratory (SciLifeLab) Biobank that collection kits and flexible sample storage.
also includes samples from other animals as well as other The Canine Biobank (part of the SLU SciLifeLab Biobank)
organisms. The Canine Biobank is similar to human is widely used by researchers at Swedish University of
equivalents in that samples from different tissues are Agricultural Sciences and Uppsala University and their
stored together with high quality phenotype information collaborators in genetic research to identify disease-
collected by veterinarians. causing genes using the dog as model organism.
The laboratory procedures are rigorous to ensure We currently design a database for storing information
secure storage with minimal deterioration of the samples for plant, animal, and microbe sample collections in
over time. A pipeline for sample handling has been set up order to make already existing collections searchable
that includes a barcoding tracking with a computer-based and available for research collaborations. We plan to
laboratory information management system (LabWare launch the database service to the research community
LIMS, LabWare Ltd, UK.) and high-throughput extraction during 2013.
system including a DNA and RNA extraction robot
(QIAsymphony SP/AS instrument (Qiagen, Hilden,
Germany). A key feature of the workflow is a database
connection with the Swedish Kennel Club (SKK) that
allows incorporation of pedigree information from
registered dogs and phenotypes of individual dogs that
have been registered at SKK.
9.1.3 Poster session on collection & storage 9.1.4 Poster session on collection & storage
FRCBS offers high-quality Biobanking service for Finnish
sample processing service for hematological clinics
biobanking Tiina Vesterinen1, Sari Tiitinen2, Kari Aranko2, Kimmo
Pitknen1, Kimmo Porkka3, Pekka Anttila4, Perttu
Sari Tiitinen, Elina Honkavaara, Outi Huoponen, Eeva
Koskenvesa4, Maija Itl-Remes4 (1Institute for Molecular
Mainio, Leena Valmu, Kari Aranko(FRC Blood Service,
Medicine, Finland, 2Finnish Red Cross Blood Service, Finland,
Finland) 3Hospital District of Helsinki and Uusimaa, Finland, 4Finnish
ABSTRACT Association of Hematology, Finland)

Background: Finnish Red Cross Blood Service (FRCBS) ABSTRACT
is a national non-profit organization having a strong
Background: This collaborative effort of Finnish
experience in processing of blood and cell products with
Association of Hematology (FAH), Institute for
standardized procedures. FRCBS has existing
Molecular Medicine Finland (FIMM) and Finnish Red
connections to all Finnish hospitals and maintains the
Cross Blood Service (FRCBS) is the first national
Finnish Cord Blood bank and the Bone Marrow Registry.
disease-based biobanking and registry initiative in Finland.
FRCBS provides an experienced platform for processing
Project provides a comprehensive infrastructure for
high-quality biobank samples in order to enable and
systematic collection, processing and storing of samples
facilitate state-of-art research projects.
and clinical data from hematological patients.
Approach: Samples collected in hospitals around
Methods: Based on informed consent, patient donates
Finland can be shipped within 8 hours of sampling to
blood, bone marrow and skin biopsies at the time of
FRCBS, Helsinki, where all samples are coded, processed
diagnosis, at remission and at possible relapse of the
according to SOPs, aliquoted and frozen. Different
disease. Samples are shipped to FRCBS where they are
sample types, e.g. blood, serum, plasma and bone
centrally coded, processed, aliquoted and frozen. FIMM
marrow, as well as many different analytes, e.g. intact
stores the aliquots, maintains LIMS systems and
cells, DNA, RNA, proteins and other molecules, can be
distributes samples to approved research projects. FAH
processed and further analyzed. Quality and LIMS
owns biobanked samples and data and maintains web
systems ensure a high-quality sample processing and data
based clinical data registry.
management.
Results: Sample collection started in 12/2011 at the
Results: For the first customer, Finnish Hematology
Meilahti Hospital in Helsinki and will extend to at least 5
Registry and Biobank (FHRB), the biobanking service is
other clinics nationwide during 2012. At the moment 52
provided via collaboration of Finnish Association of
patients have been recruited translating over 2500
Hematology (FAH), Finnish Institute for Molecular
aliquots. Policies and procedures for sample access are
Medicine (FIMM) and FRCBS. FRCBS is responsible for
transparent and available on website
sample logistics, coding, processing and freezing. FAH
www.hematology.fi/fhrb. Biobanking fee includes all the
owns the project and is responsible for the clinical
costs from sample collection to sample storage and is
registry, whereas FIMM maintains the LIMS and storage
paid by participating hematological clinics. Researchers
systems. All processed aliquots are traceable back to
utilizing the samples pay only for sample picking and
sampling, including patient code, time stamps for
shipping. Samples and data are available for all
sampling, arrival and for freezing as well as used
researchers providing a relevant and acceptable study
materials and SOPs.
plan and application. Applications are reviewed by
Conclusions: Biobanking requires expertise in several Scientific Board and accepted by Steering Group
fields such as logistics, sample handling and processing, including a member from patient organization.
data security, IT systems and sample storage. For being
Conclusion: Offering a biobanking service is challenging
able to provide a high-quality and cost effective service it
but duable through collaboration. Clear responsibilities
is advisable to centralize systems and collaborate with
and rules for sample access and data return are needed
best experts. FRCBS has combined its own strong
for the maximal utility of a biobank. High-quality
experience and close connections to hospitals creating a
biological samples and clinical data are crucial for
new service platform within its clinical laboratory
enabling faster translational research and for creating
concept.
benefits for patients.
9.1.5 Poster session on collection & storage References:
1Biobanks in Europe: Prospects for Harmonisation and Networking. Eleni
Using the Molecular Methods Zika, Daniele Paci, Tobias Schulte in den Bumen, Anette Braun, Sylvie
RijKers- Defrasne, Mylne Deschnes, Isabel Fortier, Jens Laage-Hellman,
database to harmonise biobank Christian A. Scerri, Dolores Ibarreta. JRC Scientific and Technical
reports. EUR 24361 EN 2010
data and encourage collaborative 2Final Report of the joint PHOEBE - P3G - BBMRI Conference
"Harmonising Biobank Resaerch: Maximising Value - Maximising Use".

projects 2009: Brussels.
3Harmonising BioBanki Research: Maximising Value Maximising Use.
Tomas Klingstrm & Erik Bongcam-Rudloff (Swedish Jennifer R. Harris, Bartha Maria Knoppers, Ph.D and Kurt Zatloukal.
University of Agriculture, Department of Animal Breeding and March 2009 conference summary.
5Meeting report Laboratory Protocol Standards for the Molecular
Genetics, Sweden)
Methods Database: A workshop report. Tomas Klingstrm, Larisa
Soldatova, Robert Stevens, T. Erik Roos, Morris A. Swertz, Kristian M.
ABSTRACT Mller, Mat Kala, Patrick Lambrix, Mike Taussig, Jan-Eric Litton, Ulf
Landegren, Erik Bongcam-Rudloff. N Biotechnol. 2012, May
Background: The Molecular Methods Database 5Standard preanalytical coding for biospecimens: Review and
(MolMeth) was created to support biobanking by implementation of the Sample PREanalytical Code. Sabine Lehmann,
collecting and publishing protocols commonly used to Fiorella Guadagni, Helen Moore, Garry Ashton, Michael Barnes, Erica
collect and analyze biological samples. Using a Web 2.0 Benson, Judith Clements, Iren Koppandi, Domenico Coppola, Sara
Yasemin Demiroglu, Yvonne DeSouza, Annemieke De Wilde, Jacko
architecture MolMeth makes it possible for users to Duker, James Eliason, Barbara Glazer, Keith Harding, Jae Pil Jeon, Joseph
provide quality assessments and advice regarding best Kessler, Theresa Kokkat, Umberto Nanni, Kathi Shea, Amy Skubitz,
practice protocols. Stella Somiari, Gunnel Tybring, Elaine Gunter, Fotini Betsou
[International Society for Biological andEnvironmental Repositories
Supporting the harmonisation of biobanking projects in (ISBER) Working Group on Biospecimen Science] Biopreservation and
biobanking, in press.
Europe is a key purpose of European biobanking projects
[1][2]. Harmonisation implies the use, where possible,
of complementary protocols, this is not the same as the 9.1.6 Poster session on collection & storage
scientifically restrictive (and therefore unattractive)
demand for identical protocols [3]. MolMeth promotes Development of an automated
the harmonisation of biobanks by providing a platform extraction workstation for the
for prospective biobankers and researchers to identify
identical or complementary biobanks on a technical isolation of genomic DNA from
basis. Integration with other services such as [WP5] also large volume (1- 10ml) human
provides a greater understanding of clinical, ethical and
selection procedures. whole blood samples
Methods/approach: The Molecular Methods database Eric B. Vincent, Tim Sheehy, Sydnor Withers,
is an advanced protocol publishing system with a web- Cristopher Cowan, Christine Helt, Steven Krueger
interface built in Drupal 7. Protocols are submitted in a (Promega Corporation, Genomics, US)
verb oriented language (each action is described by its ABSTRACT
initial verb) and annotated in a manner similar to the
annotation used in the LaTeX document preparation Background: Nucleic Acid extraction from variable
system[4]. volume samples is commonly performed by biobanks.
Many methods are labor intensive or may be wasteful of
Collaborators are also able to use the Application reagents and consumables. Here we describe a Tecan
Programming Interface (API) used by Drupal 7 to EVO workstation to automate Promegas ReliaPrep
further enhance the capabilities of MolMeth. Current Large Volume HT gDNA Isolation System that works
work includes a SPREC code analyser [5] and well with fresh and compromised blood samples,
connections to other web services created by BBMRI.se provides a scalable system to reduce chemistry,
and BBMRI.eu. consumables, and labor costs, and enables processing of
Results: The website contains several example 32 1 to 10 ml samples in less than 4 hours.
protocols used for the collection and analysis of Methods: gDNA was extracted from blood or blood
biological samples. Biobank operators are encouraged to fractions using either automated ReliaPrep or manual
expand this library by making their own submissions to precipitation-based methods. The Tecan EVO detects
the database. the input volume of each sample and scales the reagent
MolMeth also contains extensive support for social volumes accordingly, providing optimal extractions and
networking to encourage the collaboration and reduced reagent waste. Integration of Promegas unique
harmonisation in the biobank community. ReliaPrep LV 32 HSM Instrument eliminates the need
for sample transport reducing the chance of errors and
Lessons learned : Providing a collection of high quality simplifying sample tracking. Purified DNA was compared
protocols in free text is not enough to support the by quantitation, gel electrophoresis, PCR and qPCR.
harmonisation of biobanks. Further support in the form
of social networking to support the sharing of expert Results: Comparable yields and purities were observed
and feedback is necessary to facilitate true knowledge between the manual and automated purification systems
sharing and providing greater support for the general when processing fresh blood samples. With frozen
research community when using biobanks. blood samples precipitation-based methods showed
reduced yields while ReliaPrep yields were unaffected.
Yields were within the expected range for normal blood
samples and purity was appropriate for common
applications. Isolated genomic DNA performed well in Methods/approach: Water, oxygen and atmospheric
applications including gel electrophoresis, PCR and qPCR ozone are involved in the degradation nucleic acids. A
amplification. Linearity of the extraction protocol is thorough dehydration slows down RNA and DNA
presented as well as inter and intra run consistency. degradation while additives may add to their stability.
However, air exposure of dehydrated nucleic acids
accelerates degradation rates and, for DNA, leads to
9.1.7 Poster session on collection & storage aggregation. Therefore, full protection from air is
The minicapsules for RNA and essential, but standard laboratory vessels are unable to
protect samples from air exposure. On the contrary, in
DNA long term room temperature our procedure, samples can be maintained under an
storage: an innovative and anoxic and anhydrous environment in small glass vials
fitted in stainless-steel, laser-sealed capsules. These
reliable tool for an improved minicapsules are temper-proof and have a unique
biobank management engraved datamatrix code allowing a complete and
unalterable traceability of the samples.
Jacques Bonnet 1, Marthe Colotte2, Anne-Lise Fabre 2,
Delphine Coudy3, Aurlie Luis ), Christian Oste4, Results: We conducted accelerated aging studies
Sophie Tuffet3 (1Institut Bergoni, INSERM U916, 229 enabling to mathematically predict the nucleic acids
Cours de l'Argonne, BORDEAUX, France, 2Imagene, behaviour in these storage conditions. Degradation was
production plateform, Genopole Campus 1, 5 rue Henri also monitored at room temperature over several years.
Desbrures, 91030 Evry, France, 3Imagene, R&D, 146 rue Our results showed that after long term storage in the
Lo Saignat, 33076 Bordeaux, 4Bioscope International LLC, minicapsules, nucleic acids can be quantitatively
Carrer camp de l'Oliver, 130, E -17401 Arbucies, Spain) recovered in a form compatible with any downstream
analysis and manipulation.
ABSTRACT
Lessons learned: The minicapsules are an innovative and
Background: Because of the rapid increase in the ideal tool for improved nucleic acids storage and sample
number of DNA and RNA samples to be stored, classical management. They protect the samples from the most
preservation in freezers, always subjected to risks of damaging factors (water, oxygen) that will affect their
technical failure or natural disasters, is becoming more quality, while traceability of the samples is assured
and more cumbersome and costly in energy and through dual barcoding.
maintenance. In this context, room temperature storage
of DNA and RNA samples presents real economical and
ecological advantages while being compatible with the
high throughput and traceability samples management of
biobanks and bio-resources centers.
Data analysis
10.0.1 Poster session on data analysis ABSTRACT
Piloting of data harmonization Background: The Healthy Obese Project (HOP) is a
core project of the BioSHaRE-EU program. The
methods and tools: the objective of this initiative is to harmonize and analyse
BioSHaRE Healthy Obese data from multiple biobanks across Europe in order to
characterize the metabolically healthy obese. This poster
Project gives an overview of the process and information
Dany Doiron1, Bruce Wolffenbuttel2, Markus Perola3, technology (IT) tools used to harmonize data across
Vincent Ferreti4, Paul Burton1, 5, Ronald Stolk6, Isabel participating biobanks.
Fortier1,7 (1Public Population Project in Genomics (P3G), Methods/approach: Data harmonization is achieved
Montreal, Quebec, Canada, 2Department of Endocrinology, using a systematic approach supported by web-based
University Medical Center Groningen, Groningen, The software. First, biobanks are recruited to participate in
Netherlands, 3Department of Chronic Disease Prevention, the HOP and are documented on the BioSHaRE website
National Institute for Health and Welfare, Helsinki, Finland, (www.bioshare.eu). Secondly, variables of interest are
4Ontario Institute for Cancer Research, MaRS Centre,
selected and defined by participating investigators. These
Toronto, Ontario, Canada, 5Department of Health Sciences, target variables describe the common format into
University of Leicester, Leicester, UK, 6Department of which biobank-specific data will need to be transformed.
Epidemiology, University Medical Center Groningen, Third, using participating biobanks questionnaires and
Groningen, The Netherlands, 7Research Institute McGill data dictionaries, the potential for each biobank to
University Health Centre, Montreal, Quebec, Canada) generate target variables is evaluated. Fourth, processing
algorithms transforming source data into the target Lessons learned: By making epistemological
format are developed and implemented for each biobank considerations integral to biobanking futures, and
whenever harmonization is deemed possible. considering both their promises and limits, our paper
presents a broader and deeper understanding of data-
Results: In this pilot phase, seven large biobanks across sharing and analysis across biobanks. It thereby provides
Europe were recruited to participate in the HOP. A first a framework for making decisions about the collection,
set of target variables including anthropometric and organisation and representation of data.
biochemical measures, and history of obesity-related
diseases was identified to evaluate the prevalence of
healthy obesity across biobanks. A second set of target 10.0.3 Poster session on data analysis
lifestyle and risk factors variables was defined in order to
explore their association with being metabolically healthy
Presence of sample associated
but obese. Processing algorithms were developed and metadata and genotyping results
led to harmonized datasets for each biobank.
helps to reliably evaluate the
Lessons learned: Harmonization of data collected by
individual biobanks requires a high level of coordination. quality of biobank material and
The DataSHaPER approach (www.datashaper.org), and recruitment methodology:
Mica and Opal web-based facilitate the harmonization
process by centralising and standardizing all the analysis of 18 000 samples from
information required to achieve common format data Genome Database of Latvian
without however centralizing individual participant data.
The piloting of these methods and tools through the Population
HOP will help the emergence of other collaborative Janis Klovins, Linda Tarasova, Liene Nikitina-Zake
research projects within BioSHaRE-EU and other (Latvian Biomedical Research and Study Centre, Riga, Latvia)
research consortia in the future.
ABSTRACT
10.0.2 Poster session on data analysis Background: Genome Database of Latvian Population
(LGDB) is a government financed long term national
Data-pooling across biobanks: infrastructure project aiming to create population based
Epistemological considerations biobank of Latvia. Since its launch in 2006 LGDB has
become a major source for genetic epidemiology studies
Ipek Demir & Madeleine Murtagh (Data to Knowledge in Latvia. Main hospitals and many general practitioners
Research Group, University of Leicester, UK) in Latvia are involved in the recruitment resulting in
ABSTRACT more than 18 000 participants today. Number of
different recruitment workflows is used for the
Background: Pooling data from across biobanks is establishment of biobank. The aim of study was to
fundamental for the progression of biomedical research, investigate whether the difference in recruitment
particularly its translation into effective, precise medical methodology may cause significant changes in quality and
interventions. However, meta-research on biobanks, that specific amount of the phenotypic data as well as to
is studies of biobanking and data analysis, has analyse the relationship between the available
overwhelmingly focused upon ethico-legal issues and the characteristics of DNA and genotyping quality.
publics responses to biobanks. There is a lacuna of
research which explores the epistemological Methods/approach: We estimated the difference of
underpinnings of sharing data and their implications for quality of phenotypic, anthropometric and social data
research practice and data analysis. Our paper addresses between groups obtained after stratification of data on
this lacuna by uncovering and exploring the basis of different associated metadata, as well as DNA
epistemological priorities, values and assumptions of genotype quality characteristics obtained from different
biobanking science. Opportunities for, and the limits of, genotyping platforms. For this analysis we have selected
pooling numerical data across biobanks are considered. metadata that characterize the recruitment procedure
(e.g. self reported vs. interview based data acquirements
Methods/approach: Analytical review of etc.) and measures of DNA quantity and quality. Chi
epistemological barriers to, and enablers of, numerical square test and ANOVA or Kruscal-Wallis tests were
data-pooling across biobanks. used to estimate the significance of difference in case of
categorical and quantitative data respectively.
Results: The paper elucidates the claims that (a)
combining and pooling data-sets involves not only Results: No significant difference was found in amount
standardization and harmonization efforts but also an and the majority of quality characteristics of phenotypic
open acknowledgement of incommensurability in certain data between different recruitment associated metadata
cases; and (b) data-ontology requires us to understand categories. However when disease specific information
that data collection is imbued with values. These values was analysed we found significant difference between
have implications for the reuse-ability and repurpose- data from self-reports and data reported by health care
ability of the data produced and for their subsequent specialists within the same group of participants for
analysis. We further argue that (c) the 'spatial and number of disease groups.
temporal translatability' of data is a fundamental
epistemic value required to direct biobanking science in Lessons learned: Revealed differences emphasise
general and data-collection in particular. importance of metadata information for quality control
in biobanks with long term ongoing participant 10.0.5 Poster session on data analysis
involvement and are used to improve recruitment
procedures as well as project specific data selection.
Future of large data analysis from
Biobank
10.0.4 Poster session on data analysis Yong Hou & Li Li (BGI Europe, Research and
Development, China)
Harmonization of Finnish
epidemiological and clinical ABSTRACT
cohorts data While systematic biobanks, which formerly referred to

biological repositories, have been core resources for
Kaisa Silander1, Niina Eklund1, Markku Laukkanen1, scientific work and public health for years, there is now
Askar Ibragimov2, Pivi Laiho1, Juha Muilu2, Anu Jalanko1, increasing interest in development in the digital
Markus Perola1 (1University of Helsinki, FIMM, Finland and processing of large bodies of genetic information. This
National Institute for Health and Welfare, Public Health genetic information is thought to be the vital part for
Genomics Unit, Finland, 2University of Helsinki, FIMM, most biobanks, some of which are population and public
Finland) health focused, with the main goals to identify the
interactions among genes, lifestyle and different social
ABSTRACT
and physical environments while others are more
Background: At THL, we have a long tradition of specialized in particular disorders. However, how to
collecting large, prospective cohorts to study the risk obtain and manage the extensive and accuracy genetic
factors associated with chronic diseases. These cohorts information derived from massive samples will be a great
are followed up using National registers to track challenge for both types of biobanks. With the
hospitalization events, drug usage and death. For these advantages of low-cost and high-throughput, the next-
studies, we are developing a secure database system that generation sequencing technology may be the best
will include well-annotated phenotype data that could be practicable way to clear up this difficulty.
searched using key words and reference libraries, and
The ceaseless advancement of NGS technology enables
most importantly, in which cohort data would be
scientists to conduct ambitious research with large
harmonized in regard to other cohort studies.
sample size and develop the single base resolution
Methods/approach: The in house database system we genetic database for certain human cohort or group as
developed is called SamWise. It is used at the Meilahti well. Meanwhile, much shorter turnaround time can also
Integrated Biobank Infrastructure for sample handling be expected. Combining the massive data produced by
functions. We have expanded this database system to NGS platform with previous physical and clinical data in
include structured phenotype information accompanied biobanks, the genotype-phenotype correlation research
by a rich set of variable meta-data and aim to utilize this will be accelerated and subsequently personalized
database as a part of the national BBMRI.fi IT- medical treatment will be achieved much faster than
infrastructure. For each variable, we include various anticipated.
meta-data: unit of measurement, protocol, key words,
Based on our rich experience in participating in many
and UMLS reference code. We use these data for
international human genome projects including HGP,
harmonization of the variables between cohorts.
HAPMAP, 1000Genome, we have developed an efficient
Results: We started our harmonization effort with the way to identify a large number of genetic variance loci
Finrisk studies. These cross-sectional population surveys including most rare variants from massive samples.
are carried out every 5 years, to assess the risk factors Through low coverage multi-sample sequencing, we are
of chronic diseases and health behavior in the working able to construct haplotype maps for different
age population. > 600 variables are collected at baseline populations since every population will have their own
from each participant. We selected the Finrisk 2007 linkage disequilibrium pattern and haplotype structure
survey as a reference study to which we compare other and frequencies. We can find out the population or
cohorts variables. Other studies we are working on are individual specific features which maybe closely
the Helsinki Sudden Death Study (256 variables), Young associated with human health and other phenotypic
Finns Study (10000 variables), and the Child-Sleep study traits. Such strategy can help scientists identify more
(recruitment ongoing). missing heritability and propel the upcoming
personalized medical treatment. Here, combined with
Lessons learned: Even within a single study such as our powerful bioinformatics analysis and sequencing
Finrisk, each survey year contains slightly different data capacity, we would like to contribute our work on how
and the harmonization of variables is not always straight to enable the biobanks more efficient and integrate and
forward. The use of reference libraries is useful for advance these research areas in the process of
harmonization, but is not sufficient, and manual collaborating with organizations and institutions which
comparison is necessary for proper harmonization. take charge of biobanks.
10.0.6 Poster session on data analysis 10.0.7 Poster session on data analysis
BioSHaRE - Biobank The SAIL platform: enhancing
Standardisation and biobank-based collaborative
Harmonisation for Research studies
Excellence in the European Ola Spjuth1,2,3, Jrn Dietrich4, Janna Hastings5,6, Juni
Palmgren1,2,3, Jan-Eric Litton1,3, and Maria
Union Krestyaninova2,4 (1Karolinska Institutet, Department of
Lisette Giepmans1, Paul Burton2, Isabel Fortier3, Medical Epidemiology and Biostatistics, Sweden, 2University of
Ronald Stolk1 (1University Medical Center Groningen, Helsinki, Institute for Molecular Medicine Finland, FIMM,
Department of Epidemiology, The Netherlands, 2University of Finland, 3The Swedish e-Science Research Center, Sweden,
Leicester, Department of Health Sciences, United Kingdom, 4Uniquer Sarl, Lausanne, 5Cheminformatics and Metabolism,
3Public Population Project in Genomics (P3G), Montreal, European Bioinformatics Institute, Hinxton, UK, 6Swiss Centre
Canada) for Affective Sciences, University of Geneva, Switzerland)
ABSTRACT ABSTRACT
Background: BioSHaRE, funded by the EU FP7 Background: In order to effectively translate the
program has two major aims: (1) improving the tools for distributed wealth of medical resources being stored in
data sharing between biobanks and (2) providing real modern biobanks into research outcomes that ultimately
examples of scientific projects, using these tools. It builds lead to benefits for patients, researchers across the
on extensive precursor work and works in close globe need to be able to search and access sample
collaboration with existing biobanking initiatives, like material in all available collections. Our objective is to
BBMRI and P3G. The BioSHaRE consortium comprises develop an on-line resource to allow researchers to
of 16 universities and research institutes from Europe locate and estimate the amount of biomaterial available
and Canada, and is coordinated from the University from integrated sample collections that is of relevance to
Medical Center Groningen, the Netherlands. their research questions.
Methods/approach: BioSHaRE consists of nine Work Methods/approach: SAIL (sail.simbioms.org), the
Packages that cover phenotype harmonisation and Sample avAILability System, provides a unified and
standardisation, bioinformatics tools, harmonised indexing system for researchers to locate
partnerships/dissemination, and implementation/ roll-out and estimate the amount of relevant biomaterial available
guided professionally on Ethical, Legal and Social from sample collections, while preserving patient privacy
Implications by a team of ELSI professionals. BioSHaRE is and biobank competitiveness through controlled
a scientific project. The so-called Core Projects, are transparency. Information is provided for each sample on
multi-disciplinary projects that rely on the work done in whether a value for a given phenotypic variable exists or
several work packages to deliver scientific results. not, without storing or disclosing the value per se.
Current Core Projects include Healthy Obese, Phenotypic variables are organised by controlled
Environmental and Biomarkers. vocabularies, taxonomic structures and studies. Building
the SAIL data involves the steps: i) creation of a
Five biobanks are participating in BioSHaRE from the Harmonised Vocabulary (HV) for Variables of Interest
start in Dec. 2010 (KORA, HUNT, LifeGene, LifeLines (VOIs), ii) mapping the HV to the original biobank
and UK Biobank). Other biobanks are invited to join variables, iii) loading information on the presence of
BioSHaRE to share data in the Core Projects. VOIs values per sample collection. The SAIL user
Results: The results of the first year include launch of interface allows researchers to comprehensively search
the BioSHaRE-EU website, the definitions of a minimal on these variables and estimate sample size, highlighting
dataset for four multifactorial diseases, ELSI tools to the most informative samples for a given research study.
share data and a horizon scanning plan for key activities. Results: SAIL has been successfully used for
Great progress was made on the software solutions for harmonisation of phenotypic information from hospitals
working with large scale data, notably DataSHIELD and and biobanks, and the current database release contains
ESPRESSO. around 200 000 samples from 14 collections. We
The Healthy Obese project will deliver the first scientific demonstrate the utility of the system by describing two
results of BioSHaRE mid 2012; details will be presented. use cases: data availability in a pan-European research
consortium as well as integrating sample data with
Lessons learned: BioSHaRE made important progress clinical data.
in pooling large scale datasets, which enables research on
multi-factorial diseases, improving personalized medicine Lessons learned: The SAIL mission as an online
and personalized prevention. Concrete results of resource is to increase the visibility of biobank content
BioSHaRE projects and harmonization tools are made in order to maximise the impact of these data resources
available through www.bioshare.eu. for primary research into pressing modern challenges to
health and well-being, ease the set-up of population-wide
meta-studies, and facilitate the integration of biobank and
clinical data.
10.0.8 Poster session on data analysis A SNP record was identified by an "rs" identifier assigned
to it by the dbSNP database. For the analysis, only the
The challenge of comparing and unambiguous records (which had a maximum of one "rs"
integrating datasets with identifier and where those "rs" identifiers mapped
exactly to one location) were selected.
disparate references
Results: There were 28,899,410 (48.93 % of total)
Sabry Razick & Pl Strom (Department of Cancer unambiguous records in hg19. There were 16,677,840
Research and Molecular Medicine, NTNU) records shared by both hg18 and hg19. Out of these,
ABSTRACT only 3,163 (0.19%) records had the same chromosome,
coordinate and the strand in both versions. The
Background: Biobank samples could be used by many chromosome where the "rs" identifier was mapped was
different researchers to perform various analysis tasks in different in 116,225 (0.70%) occasions. The chromosome
different points in time. Therefore, it is very important was the same but the coordinate was different for
to make the results comparable and to allow them to be 16,558,452 (99.28%) "rs" records and for 13,273,593
used in a complimenting way. An obstacle for this has (45.93%) of those the difference was more than 50,000.
been the experimental designs and analysis tasks that are
relying on a specific reference genome. In this article, we The results of comparison between hg19 and dbSNP (for
have discussed the effect of differences in reference 37:GRCh37.p5) revealed that there were 380 records
assemblies and build versions when comparing and where the chromosome was different. For the Agilent
integrating genomic data using reported single nucleotide Human Genome CGH+SNP Microarray (G4842A) there
polymorphism (SNP) positions as landmarks. was one instance where the hg19 (the version used to
design the chip) and Agilent data did not match. This was
Methods/approach: We have quantified the for the record rs2203011 (probes A_20_P00127670 and
differences between three different references using the A_20_P00229576), where hg19 said this was on
location of the SNP records found in them. The Chromosome-16 whereas Agilent said it is on
evaluation involved: Chromosome-14.
Quantifying the change of chromosomal location of Lessons learned: The main conclusion of this analysis
SNPs between hg19 and hg18 from UCSC genome is that there are significant differences in coordinates of
browser (Fujita, et al. 2010). SNPs between different versions of the reference
genome which should be taken into consideration when
Quantifying the change of chromosomal location of
performing analysis. Therefore, having consistent and
SNPs between hg19 from UCSC genome browser
systematic methods to map locations between different
and the GRCh37.3 from NCBI dbSNP
references is an important requirement. It is also
(http://www.ncbi.nlm.nih.gov/projects/SNP/)
important to make sure the software used for the
Quantifying the effect of the above differences for analysis is using the same genome reference as the one
the Agilent Human Genome CGH+SNP used to design the experiment.
Microarrays (G4842A)
(http://www.genomics.agilent.com).
Ethics & regulation

will collect clinical data linked to research biosamples in
11.0.1 Poster session on ethics & regulation a National Health Service (NHS) setting. The data
Development of a Governance generated may also assist clinical practice and audit. The
re-use of data for different purposes has far reaching
Framework for INBANK potential benefits but also presents ethical and
Hawys Williams1, Sarah Rudkin1, Wendy Thomson2, regulatory challenges, necessitating the need for a
Michael Parker3, Gillian Armitt2, Will Dixon2 (1Arthritis robust, coherent, and transparent INBANK Governance
Research UK Research & Education Department, Framework.
Chesterfield, UK, 2Arthritis Research UK Epidemiology Unit, Methods/approach: A comprehensive review of UK
University of Manchester, UK, 3Director of Ethox, University ethical and legal standards underpinning NHS research in
of Oxford, UK) the UK, current literature and a series of consultations
ABSTRACT with major stakeholders and key experts from exemplar
projects (e.g. large scale Biobanks) has been undertaken.
Background: INBANK aims to provide the
infrastructure to enable coordinated UK musculoskeletal Results : Our results to date indicate that the current
research by application of a novel IT platform and UK landscape poses challenges originating from its
Biobanking facility. Funded by Arthritis Research UK, it complexity, lack of proportionality, with unclear
legislation and professional guidelines which are often Lessons learned: Biobank researchers have insufficient
conflicting. The guidelines do not adequately inform best guidance when it comes to mediating the tension
practice for obtaining a patients consent for access to between their legal and ethical obligations to fully inform
multiple datasets (including linkage to external datasets) subjects regarding the research for which their data and
and biosamples for research that will evolve with time samples will be used, and the requirements imposed by
and be utilised for different purposes. The tiered consent funding bodies to share data openly. More research is
model planned for INBANK will not be easy to needed in order to clarify the quality and quantity of
implement under current governance processes. Lack of information necessary to ensure that consent is
clarity also exists between the lines of responsibility of informed, and to establish the appropriate balance
data controllers and processors of health datasets. between subjects rights to self-determination, and the
public benefit that can arise from maximizing the use of
Lessons learned: The legal and regulatory biobank resources through promoting open
requirements governing the different facets of INBANK biotechnology strategies.
are numerous and complex. Navigating a clear path will
require learning from existing projects, consultation with
multiple agencies and close public engagement. 11.0.3 Poster session on ethics & regulation
Information sharing from similar projects is encouraged
to ensure a robust Framework that is practicable whilst
DataSHIELD: an ethically robust
respecting the privacy, dignity and legal rights of all solution to multiple site individual-
involved.
level data analysis?
11.0.2 Poster session on ethics & regulation Jennifer R Harris1, Isabelle Budin-Ljsne1, Paul
Burton2, Bartha Maria Knoppers3, Madeleine Murtagh2,
Open access biobanks and Julia Isaeva1, Anne Marie Tass4, Susan Wallace2 & Ipek
Demir2 (1The Norwegian Institute of Public Health,
informed consent; A research Department Division of Epidemiology, Norway, 2Data to
paradox? Knowledge Research Group, University of Leicester, UK,
3Centre for Genomics and Society, McGill University,
Clarissa Allen & Yann Joly (McGill University and Canada,4P3G, Canada)
Gnome Qubec Innovation Centre, Center of Genomics and
Policy, Canada) ABSTRACT
ABSTRACT Background: Data sharing is pivotal to advance our
understanding of human health; the need to share data
Background: In large biobank projects, the increasingly has driven international biobanking and many funders
international, collaborative nature of research seems now require data sharing plans to maximize the scientific
difficult to reconcile with the traditional ethical and legal and economic returns on research data. Despite these
concept of informed consent (IC). How can consent be data sharing imperatives, constraints on data sharing are
truly informed if the subject is unaware of potential common and impede progress. Many of these
future uses of samples and data? A broader consent constraints derive from ethical, legal and social issues
standard could facilitate open sharing, but may not (ELSI) that arise when data are shared across studies,
adequately respect autonomy. In this study, we across countries, and across researchers. The
empirically evaluated whether the Canadian ethical and DataSHIELD method allows researchers to analyze
legal IC requirements matched with funding individual-level data across studies--but without
requirements to openly share data, and with actual physically sharing the data.
biobank practices.
We investigate how ELSI concerns raised by data sharing
Methods: We conducted a comparative, qualitative are affected under DataSHIELD and examine the impact
review of relevant legislation and jurisprudence, ethical of the DataSHIELD approach on Ethics Review and
guidelines, requirements from funding bodies, and IC consent.
documents from Canadian biobank projects, in order to
identify consistencies, contradictions, and areas of Methods: Analytic review of the DataSHIELD method,
uncertainty. relevant literature and data sharing policies developed in
ENGAGE and by funders internationally.
Results: Canadian legal sources consistently required
that consent for participation in research be informed, as Results: Under DataSHIELD, concerns about the major
did ethical guidelines. The latter in some cases allowed issues of identifiability, breaches of privacy and
secondary use of samples without consent, dependent confidentiality, prohibitions on cross-institute or cross-
upon REB approval. A substantial number of funding border sharing and misuses of shared data are
policies required projects to share data and resources, minimized. Researchers, ethics review boards, and
including biological specimens, as rapidly as possible and funders seek ethically robust yet administratively
with minimal or no restrictions. IC documents from streamlined solutions to support broad data sharing.
biobanks variably asked for broad consent, narrow Where previous solutions were often burdensome and
consent, or allowed subjects to specify the level of costly, and required legal and ethical expertise,
research in which they wished to participate, reflecting DataSHIELD provides a low cost approach which elides
similar variability in proposed data-sharing practices. many ELSI issues. It has the potential to offer a more
streamlined process for Ethics Review Boards, allows
data to remain under the control of the data generator
and may lead to the establishment of shared attending to process and to the people making specific
methodologies. Nonetheless, DataSHIELD does not contributions to the larger common goal.
address professional issues related to data-sharing, such
as concerns about appropriate identification of
intellectual property and contribution. More work is 11.0.5 Poster session on ethics & regulation
needed to clarify whether a DataSHIELD approach will Genetic information and privacy
be acceptable under the legal provisions of participating
countries. protection (Polish perspective)
Lessons learned: The analytical landscape is dynamic Katarzyna akomiec, University of Warsaw/Office of
and there is an ever increasing demand to deal with Human Rights Defender of the Republic of Poland,
greater amounts of data. While we can never fully future Constitutional Law Department/ Constiutional and
proof the sharing of data, the imperative to share is International Law Department Poland
driving innovative solutions that hold good promise for ABSTRACT
ethically robust approaches to data integration.
One of the main subjects of the public debate in Poland
is a need for consistent regulation on medical law.
11.0.4 Poster session on ethics & regulation Process of achieving this objective is facing many
Situating the Sample: difficulties. Firstly, in the axiological sphere due to the
increasing diversification of society. Secondly, caused by
Governance through Webs of subjecting the universal system of human rights and
Inclusion freedoms, proclaimed both in acts of international law
(ECHR, CFREU) and the Constitution of the Republic of
Karen Melham (University of Oxford, HeLEX Centre for Poland, to challenges arising from a dynamic
Health Law and Emerging Technologies, NIHR Biomedical development of medicine and biotechnology. Interesting
Research Centre Oxford, UK) from this perspective are consequences of the latest
advances in genetics, which lead to creation of
ABSTRACT
population-based biobanks which functioning is based the
Background: Research biobanks are ecosystems of collection of samples of genetic material from a large
diverse stakeholders including the public, patients, number of individuals. The genetic information is usually
healthcare workers, researchers, governments, funders combined with different types of data relating to
and regulators. Biobank governance is central to individual donors, which may be considered sensitive.
maintaining the health and ongoing function of these These issues are particularly important in the context of
interrelationships and thus the capacity of the need to maintain the level of protection the right to
bioresource. We propose conceptualising biobank privacy and personal data protection specific to the
governance in terms of a web of inclusion. Like a European legal framework. Analyzing the existing system
spiders web, a web of inclusion is both structure and of medical law in Poland, which is based on the refined
process, continually adapting to meet the demands of its grid of legal instruments, it is possible to see a need to
environment. Governance based on webs of inclusion modify existing laws to ensure the fullest protection of
makes possible a coherent, resilient and sustainable individual rights while allowing the development of
organisation that attends to and can incorporate current medicine. It is important to consider the optimization of
and future stakeholder interests. data protection mechanisms, taking into account the
varied views on the nature of genetic data and the need
Methods: To demonstrate what this entails, we begin to ensure balance between the interests of individuals
with the sample, the point in common among all and the interest of the society. Although the existing
stakeholders, and trace the implications of its various regulations on medical law, including those concerning
meanings to those parties. We use the example of the protection of medical data, to some extent protect
Oxford Laboratory Medicine (OLM), a platform that the genetic identity of the individual, it is not sufficient in
brings together expertise, services and bioresources all its aspects. It is also particularly important to carefully
from across the Oxford University Hospitals NHS Trust examine the issues relating to consent for the obtaining
partnership. We show how OLM aligns current genetic material and processing of the genetic
expertise, particularly in research and oversight, in a way information.
that allows it to develop and include further
developments, particularly in IT and patient centered
initiatives. Our methods are evidence-based
organisational design, qualitative research and ethical
analysis.
Results: The result is a vivid work in progress. We can
show proof of principle for governance through webs of
inclusion by aligning current excellence, which in turn
makes possible meaningful inclusion of all stakeholders in
a complex common enterprise.
Lessons learned: Webs of inclusion are based on
clearly articulated values discerned from stakeholder
practice. Much of what we have learned is
methodological, underscoring the importance of
11.0.6 Poster session on ethics & regulation 11.0.7 Poster session on ethics & regulation
Pilot study for harmonising bio- The ELSI and privacy task force
resources citation in publications of the Canadian partnership for
Laurence Mabile & Anne Cambon-Thomsen on behalf tomorrow project: Ethical and
of the BRIF working group (UMR U 1027, Inserm,
Universit de Toulouse 3 - Paul Sabatier, Department:
legal issues la Canadienne
Epidmiologie et sant publique, France) Man H. Zawati & Bartha Maria Knoppers (McGill
University, Faculty of Medicine, Human Genetics Department,
ABSTRACT
Canada)
Background: An index is desirable to recognise and
ABSTRACT
measure the use of bioresources for research. BRIF
(Bioresource Research Impact Factor) is a collective The Canadian Partnership for Tomorrow Project
initiative to construct a framework intended to (CPTP) the largest study of its kind ever undertaken in
implement tools to this end. An international working Canada is enrolling hundreds of thousands of
group has been created as part of European projects Canadians between the ages of 35 and 69 years, who
(www.gen2phen.org/groups/brif-bio-resource-impact- agree to be followed for their adult lifetimes. The aim is
factor). Priority tasks have been decided and subgroups to explore how genetics, environment, lifestyle and
created accordingly: Identifier; Parameters; Relation with behavior interact and contribute to the development of
Journal editors; Access & sharing policies. Before any cancer and other chronic diseases. The study collects
harmonisation system is widely implemented, case health, lifestyle and environmental information from
studies are necessary at a restricted scale. participants over several decades. Researchers also
collect biological samples, as well as physical
Methods/approach: The general approach of such a
measurements such as weight and height. The
BRIF pilot study will be:
information contributed by study participants over time
To start implementing coherent citation rules in will provide the basis for the exploration of why some
practice participants develop cancer and other chronic diseases
and others do not.
To compare indexes of bio-resource usage obtained
using different parameters and different search The CPTP ELSI and Privacy Task Force is providing the
strategies, including the ones already in use by the Principal Investigators of the project with ethical and
bio-resource. legal support. It also develops policies and
recommendations for the benefit of the project. Given
Results: The design of such a pilot study has been the national scope of CPTP, various novel ethical and
worked out. legal issues have arisen such as: electronic consent,
Specificity of bio-resources solicited: access, return of research results or incidental findings,
and, intellectual property. This poster presentation will
various types of collections, size, duration provide a critical overview of these issues and explain
organised within identified networks how by using a qualitative content analysis of laws,
consent forms and policies the ELSI TF provided
accepting to use a unique identifier guidance on each and every one of them.
available URL pointing to the bio-resource metadata
description 11.0.8 Poster session on ethics & regulation
Items to be tested for harmonisation of bio-resource Questionnaire-based evaluation
citation in articles:
of definitions in biobank
citation with the agreed identifier
terminology
location of this citation in a given section of the
Martin Fransson & Jan-Eric Litton (Karolinska Institutet,
article
Department of Medical Epidemiology and Biostatistics,
use of a systematic bio-resource acknowledgement Sweden)
sentence
ABSTRACT
announcement of this policy in the cover letter of
Background: In order to promote communication
the article.
within the biobank community and towards external
Relevance and easiness of traceability of parameters parties it is essential that key biobank concepts are
included in the various indexes. agreed upon. The establishment of a biobank vocabulary
should start with evaluating existing sources. The
Lessons learned: Studying the various ways bio- consensus problem is at least two-fold; firstly, definitions
resources will be cited and acknowledged is a complex need to be agreed upon on a professional and cultural,
process; harmonisation of citation and traceability of use but language-independent level. Secondly, definitions
are two related but independent processes; a feasibility need to be agreed upon on an interlinguistic level,
study is necessary to identify the key and weighing enabling proper translation between languages. This
parameters to eventually, construct a meaningful BRIF
framework.
work considers the first level by evaluating existing 26 international, regional and national associations,
definitions for key biobank terminology. networks and organisations and access arrangements
applied by 51 biobank networks and biobanks active in
Methods/approach: Ten key terms were selected for the European Union, the United States, Canada and
evaluation; (1) BIOBANK, (2) SAMPLE and/or Australia. The analysis focuses on 23 concepts and
SPECIMEN, (3) SAMPLE COLLECTION, (4) STUDY, (5) principles chosen on the basis of a literature review.
ALIQUOT, (6) CODED/CODING, (7) IDENTIFYING
INFORMATION/IDENTIFIABILITY, (8) Results: A large number of biobank networks and
ANONYMISED/ANONYMISATION, (9) PERSONAL biobanks publish access arrangements on their website
DATA and (10) INFORMED CONSENT. Definitions or in scientific journals or make them available upon
were collected from major organisations, such as the EC request. This study highlights and reflects on differences
or OECD, from dedicated biobank organisations, such as in the implementation of the following concepts and
the P3G, or from controlled vocabularies, such as MeSH principles: (i) custodianship; (ii) access committees; (iii)
or the NCI thesaurus. A pilot survey consisting of a priority setting between applications; (iv) scientific
subset of eight terms was first sent out to a small group screening of applications; (v) exclusivity of
of people (n = 12) belonging to the same organisation. research/access; (vi) benefit sharing; (vii) criteria applied
The questionnaire was designed with a predefined set of to internal or external academic or commercial
two to four definitions for each term. Optionally, the applications.
respondent could choose to enter a free text definition.
Conclusion: There exist little harmonization/
Results: Nine individuals responded to the pilot survey. standardization in the principles and concepts underlying
In total there were 72 selections, and only in three cases access arrangements. There is furthermore an important
did a responded choose to enter free text. In case of the divergence in how these principles and concepts are
term BIOBANK, which had four predefined definitions, defined and implemented in access arrangements.
four people preferred a definition from the German However, it could be argued that the development of
Ethics Council, while two persons each preferred harmonized concepts and principles underlying access
definitions from P3G or MeSH. One person chose to arrangements can stimulate access to HBM and/or
enter a personal definition, and no one preferred the associated data. Such harmonization could facilitate the
corresponding definition by OECD. use of HBM and associated data from multiple sources.
Lessons learned: A full survey will be sent out to the References
European biobank community via the BBMRI.EU 1Pathmasiri S and Knoppers BM. Material and data access agreements:
core elements and Wallace S. P3G sample and data access: core
network and conducted during the summer of 2012. For elements. http://www.p3gobservatory.org/repository/ethics.htm;
the full survey, the explanatory text for the free text 2Wichmann E. New Biotechnology. 27 (2010). SUPPL. 1 (S11); (3)
option will be re-written, urging respondents to post an Deutscher Ethikrat. Human Biobanks for Research: Opinion (2010)
3Fortin S et al. Public Health Genomics. 104-114 (2011); 4Joly Y et al.
existing source rather than a personal definition. The
Hum Gen. 441-9 (2011)
result from the full survey will be presented during 5Yuille M et al. Brief Bioinform. 14-24 (2008)
HandsOn. 6Lemrow SM et al. Cancer Epidemiol Biomarkers Prev. 1533-1535 (2007)
7Lopez-Guerrero JA et al. Eur J Cancer. 2924-2929 (2006)
8Lowrance WW. Access to collections of data and materials for health
11.0.9 Poster session on ethics & regulation research (2006), http://www.wellcome.ac.uk/About-us/Policy/Spotlight-

issues/Personal-information/Public-engagement/index.htm
Comparative analyses of access
arrangements within biobank 11.1.1 Poster session on ethics & regulation
networks Research Biobanks: new
M. Verlinden1,2, N. Ectors3, H. Nys4 & I. Huys1,2
(1Research Centre for Pharmaceutical Care and Pharmaco-
provision of the Italian Data
economics, KU Leuven, Belgium; 2Centre for Intellectual Protection Authority
Property Rights, KU Leuven, Belgium, 3Translational Cell &
Tissue Research, UZ Leuven, Belgium, 4Interfaculty Centre for Elena Bravo, Giuliano DAgnolo & Carlo Petrini (Public
Biomedial Ethics and Law, Belgium) Health Institute: Istituto Superiore di Sanit Department
Hematology, Oncology and Molecular Medicine, Rome, Italy)
ABSTRACT
ABSTRACT
Background: Great promises are expected from
sharing human biological material (HBM) and/or Background: In Italy, despite a very well defined
associated data between biobanks, university centres and Ethical, Legal and Societal Issues (ELSI) framework for
industry. Insufficient access to HBM and/or associated therapeutical biobanks, the activities of research
data can constitute a major bottleneck hindering biobanks have been, until recently, poorly defined.
successful bench to bedside translation of research. Methods/approach: The recent deliberation of the
Regulation of such access is essential from a legal, ethical Italian Authority for data protection (Official Journal N.
and resource management perspective. This study 72, March 26th ,2012) [doc. web n. 1878276] on to the
explores the extent of harmonization of (legal) concepts processing of personal data for purposes of scientific
and principles underlying access arrangements within research, gives new provisions on the use of personal
biobank networks and biobanks. data on health status and biological samples already
Methods/approach: A comparative analysis is collected for treatment or for previous research
performed, assessing access arrangements proposed by projects.
Results: The new authorization facilitates the execution cause psychological or physical damage to interested
of studies and research in medical, biomedical and parties; or when the patient can not be contacted. The
epidemiological without decreasing the level of data obligation to acquire the consent of patients who have
protection for patients. This provisions allows been found is confirmed. Fall within the grounds of
universities, research institutions, medical institutions, organizational impossibility data and samples of those
scientific societies, who wish to use data or samples patients that, at the time of study enrollment, result to
already collected for treatment or previous research be dead or not contactable.
projects, to conduct research studies on specific diseases
and the effectiveness of certain treatments or drugs, Lessons learned: The Italian involvement in BBMRI is
without the consent of the patients in cases where it is largely contributing to the increased awareness of the
not possible to give them the information as prescribed importance that biobank research in public health and
by law. Exemption from collecting a new informed has enhanced attention to the ELSI issues related to this
consent for additional health research include "ethical activity. The recent provisions of the Italian Authority
reasons" and for "reasons of organizational impossibility for Data Protection will be of fundamental importance
", i.e. when giving details on the research would involve to exploit the Italian bioresource patrimony linked to the
the disclosure of information on the study that might cells and tissues archives.
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Indicating the direction biobanks need to follow
Privacy, Data Protection and

P u b l i c a t i o n
Public Health Genomics

15(5) 227312 (2012) 15 | 5 | 12 print
ISSN 16624246
online
e-ISSN 16628063
www.karger.com/phg
ISBN 9783805599962
Responsible Government
Genetics; Communication; Bioinformatics, Data Processing,

Key Issues and Challenges in Biobanking
Privacy, Data Protection and
Editor
Editor Peter Dabrock
J o u r n a l
Peter Dabrock, Erlangen
Public Health
S. Karger
Medical and Scientific Publishers
Basel . Freiburg . Paris .
London . New York .
New Delhi . Bangkok . Beijing .
Tokyo . Kuala Lumpur .
Singapore . Sydney
Contents
Privacy, Data Protection and Editorial The Privacy-Reciprocity Connection in

Biobanking: Comparing German with UK
Editor: Dabrock, P. (Erlangen)
Meeting the Current Challenges of Strategies: Hobbs, A.; Starkbaum, J.;
86 p., 13 g., 2 tab., soft cover, 2012 Governing Biobanks Responsibly: Gottweis, U.; Wichmann, H.E.; Gottweis, H.
CHF 39. / EUR 33. / USD 46.00 Dabrock, P.
Prices subject to change Dierentiating and Evaluating Common
EUR price for Germany, USD price for USA only Consent and Research Governance in
ISBN 9783805599962 Good and Public Good: Making Implicit
e-ISBN 978331899979
Biobanks: Evidence from Focus Groups Assumptions Explicit in the Contexts of
with Medical Researchers: Whitley, E.A.; Consent and Duty to Participate:
Special Topic Issue: Kanellopoulou, N.; Kaye, J. Bialobrzeski, A.; Ried, J.; Dabrock, P.
Public Health Genomics
Vol. 15, No. 5 (2012) Securing the Data Economy: Translating
Included in subscription From Protection of Privacy to Control of Data
Privacy and Enacting Security in the Streams: A Focus Group Study on Biobanks
Development of DataSHIELD: Murtagh, M.J.; in the Information Society: Snell, K.;
Demir, I.; Jenkings, K.N.; Wallace, S.E.; Starkbaum, J.; Lau, G.; Vermeer, A.; Heln, I.
Murtagh, B.; Boniol, M.; Bota, M.; Laamme, P.;
Boetta, P.; Ferretti, V.; Burton, P.R. Using Genomic Data to Make Indirect (and
Unauthorized) Estimates of Disease Risk:
IT Solutions for Privacy Protection in Nyholt, D.R.
Biobanking: Eder, J.; Gottweis, H.;
Zatloukal, K. Author and Subject Index
w w w. k a r g e r. c o m/p h g
The Necessity of Broad Consent and
Complementary Regulations for the
Protection of Personal Data in Biobanks:
What Can We Learn from the German
KI 12276
Case?: Taupitz, J.; Weigel, J.
Public Health Genomics is the leading inter-

national journal focusing on the timely
Current Impact Factor: 2.333 translation of genome-based knowledge
and technologies into public health, health
Public Health
policies, and healthcare as a whole. This
peer-reviewed journal is a bimonthly forum
Genomics
featuring original papers, reviews, short
communications, and policy statements. It is
supplemented by topic-specic issues pro-
viding a comprehensive, holistic and all-in-
Editors-in-Chief
clusive picture of the chosen subject.
A.M. Brand, Maastricht
M. Gwinn, Atlanta, Ga.
Please visit the journal website
for f ur ther reading:
w w w. k a r g e r. co m/p h g

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HandsOn: Biobanks

Uppsala, 2021 September 2012 bbmri.se

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10:30 THE ROUTE and coffee [hall D, ground floor]

MEET THE EXPERTS

EDUCATIONAL SESSIONS [hall B] IDEA LAB [hall C]

Isabelle Budin-Ljsne (Norwegian Institute of Public How many cohorts do we need?

12:30 LUNCH AND OTHER ACTIVITIES THE ROUTE [hall D]

EDUCATIONAL SESSION [hall B] IDEA LAB [hall C]

Sample and data analysis 14:00 Working together: academy, healthcare

Academy Leader: Angelo Paradiso (IRCCS

Cost-benefit: how do we secure the funding and trust

KNOWLEDGE SHARING (See programme on pages 12-14)

SEMINARS POSTER SESSIONS [ground floor]

Ethics international perspectives [hall C] Sample analysis

IDEA LAB [K3/K4, third floor]

14:00 Navigating the ethical and legal

MEET THE EXPERTS

Bring your coffee to the Ethics & Trust science

16:00 Plenary summary of idea labs [hall B]

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17:00 THE ROUTE [hall D]

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11:30 Genomics: High-resolution genome 11:30 How to ensure economic sustainability in

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