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Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Human >
The Genomics Landscape
Circa 2016
Eric Green, M.D., Ph.D.
Director, NHGRI
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
April, 1953
1960’s 1980’s
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Genomics (1987)
Human
Genome
Project
Nature (2015)
4
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Segre: May 18
Health, Disease, & Medicine
Infectious Agents Forensics Bioenergy
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Genomic Medicine
An emerging medical discipline that involves using
genomic information about an individual as part of their
clinical care (e.g., for diagnostic or therapeutic decision-
making) and the other implications of that clinical use
?
Human Realization of
Genome Genomic
Project Medicine
6
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Nature Nature
2003 2011
February, 2011
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
~$1,000,000,000
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Nature (2014)
10
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
~$1B ~$2-3K
~6-8 years ~1-3 days
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Astronomy
Cell Biology
Radiology
Genomics
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
V V
V V V
V V V
V V V
V V
2005
2007
2010
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
EUROPE
CEU IBS GBR FIN TSI
PEL
GWD MSL ESN YRI LWK GIH STU ITU PJL BEB
~6B nucleotides
~3-5M single-nucleotide variants
~150K not in databases
~60 not in either parent
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Meredith et al.
Science (2011)
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
+
+ + Gene
+
Regulation
- + -
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Nature (2012)
Nature (2011)
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
‘Team Science’
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
TGCCGCGGAACTTTTCGGCTCTCTAAGGCTGTATTTTGATA
TACGAAAGGCACATTTTCCTTCCCTTTTCAAAATGCACCTT
GCAAACGTAACAGGAACCCGACTAGGATCATCGGGAAAAGG
AGGAGGAGGAGGAAGGCAGGCTCCGGGGAAGCTGGTGGCAG
CGGGTCCTGGGTCTGGCGGACCCTGACGCGAAGGAGGGTCT
AGGAAGCTCTCCGGGGAGCCGGTTCTCCCGCCGGTGGCTTC
TTCTGTCCTCCAGCGTTGCCAACTGGACCTAAAGAGAGGCC
GCGACTGTCGCCCACCTGCGGGATGGGCCTGGTGCTGGGCG
GTAAGGACACGGACCTGGAAGGAGCGCGCGCGAGGGAGGGA
GGCTGGGAGTCAGAATCGGGAAAGGGAGGTGCGGGGCGGCG
AGGGAGCGAAGGAGGAGAGGAGGAAGGAGCGGGAGGGGTGC
TGGCGGGGGTGCGTAGTGGGTGGAGAAAGCCGCTAGAGCAA
ATTTGGGGCCGGACCAGGCAGCACTCGGCTTTTAACCTGGG
CAGTGAAGGCGGGGGAAAGAGCAAAAGGAAGGGGTGGTGTG
The Human
CGGAGTAGGGGTGGGTGGGGGGAATTGGAAGCAAATGACAT
CACAGCAGGTCAGAGAAAAAGGGTTGAGCGGCAGGCACCCA Genome Sequence
GAGTAGTAGGTCTTTGGCATTAGGAGCTTGAGCCCAGACGG
CCCTAGCAGGGACCCCAGCGCCCGAGAGACCATGCAGAGGT
CGCCTCTGGAAAAGGCCAGCGTTGTCTCCAAACTTTTTTTC
AGGTGAGAAGGTGGCCAACCGAGCTTCGGAAAGACACGTGC
CCACGAAAGAGGAGGGCGTGTGTATGGGTTGGGTTTGGGGT
AAAGGAATAAGCAGTTTTTAAAAAGATGCGCTATCATTCAT
TGTTTTGAAAGAAAATGTGGGTATTGTAGAATAAAACAGAA
AGCATTAAGAAGAGATGGAAGAATGAACTGAAGCTGATTGA
ATAGAGAGCCACATCTACTTGCAACTGAAAAGTTAGAATCT
CAAGACTCAAGTACGCTACTATGCACTTGTTTTATTTCATT
TTTCTAAGAAACTAAAAATACTTGTTAATAAGTACCTAAGT
ATGGTTTATTGGTTTTCCCCCTTCATGCCTTGGACACTTGA
TTGTCTTCTTGGCACATACAGGTGCCATGCCTGCATATAGT
AAGTGCTCAGAAAACATTTCTTGACTGAATTCAGCCAACAA
AAATTTTGGGGTAGGTAGAAAATATATGCTTAAAGTATTTA
TTGTTATGAGACTGGATATATCTAGTATTTGTCACAGGTAA
ATGATTCTTCAAAAATTGAAAGCAAATTTGTTGAAATATTT
ATTTTGAAAAAAGTTACTTCACAAGCTATAAATTTTAAAAG
CCATAGGAATAGATACCGAAGTTATATCCAACTGACATTTA
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
www.mendelian.org
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Normal
Tumor
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Pharmacogenomics
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
29
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Nature (2015)
Pharmacogenomics
30
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Pharmacogenomics
31
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Undiagnosed Diseases
32
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Pharmacogenomics
Genomics of Pregnancy
NEJM (2013)
New York Times (2013)
DW Bianchi, Nature (2015)
33
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Time (2014)
Harvard Hospitals
Boston, MA
UCSF
San Francisco, CA
Children’s Mercy
Kansas City, MO
UNC – Chapel Hill
Chapel Hill, NC
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Nature (2014)
Pharmacogenomics
Genomics of Pregnancy
Clinical Genomics
Information Systems
35
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
36
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Clinical Genomics
Information Systems
clinicalgenome.org
NEJM (2015)
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Healthcare Delivery
38
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Regulatory Oversight
--Winston Churchill
39
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
40
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Precision Medicine
A broader context for ‘individualizing’
medical care to advance human health
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Precision Medicine
Today: most medical care based on expected
response of the average patient
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Nature (2004)
44
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Genomics EHRs
emerge.mc.vanderbilt.edu
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Genomics EHRs
Technologies
Nature (2015)
46
NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Genomics EHRs
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
Genomics EHRs
Participant Partnerships
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
www.nih.gov/precisionmedicine
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NHGRI Current Topics in Genome Analysis February 24, 2016
Week 2: The Genomics Landscape Circa 2016 Eric Green, M.D., Ph.D.
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