GenoSolutions offers three different pharmacogenetic tests:

1. Pharmacogenetic Premium Profile

This test:
Identifies an individual's susceptibility to adverse drug reactions
Examines the inherited variations in genes that dictate drug response
Identifies genetic variations that may affect the individual's ability to detoxify specific toxins including
tobacco smoke and exhaust fumes
Explores the ways these variations can be used to predict how a patient will metabolize a medication
Uncovers genetic susceptibility to certain cancers and certain neurodegenerative disorders,
Fibromyalgia.
PHASE
CYP1A1
CYP2A6
CYP1B1 CYP2D6 CYP2C9 CYP3A4

I:
CYP2E1

CYTOCHROMEP-450
CYP2C19

Phase I is the first line of defense in the detoxification of all environmental toxins, including pesticides, herbicides,
pollutants, and solvents, pharmaceuticals and nutraceuticals, as well as many of the body's own waste products
(including steroid hormones).
PHASE
Methylation
COMT

II:

CONJUGATIONOFTOXINSANDELIMINATION
(catechol-O-methyltransferase)

Polymorphisms may lead to impaired metabolism of the catecholamine neurotransmitters (dopamine,

epinephrine, and norepinephrine) and may predispose individuals to bipolar disorder, ADHD, and alcoholism.
Acetylation
NAT1 NAT2

(N-acetyl

transferase)

NAT detoxifies many environmental toxins, including tobacco smoke and exhaust fumes. Polymorphisms may
result in slow or rapid acetylation, both associated with increased risk of lung, colon, bladder, or head & neck
cancer.
Glutathione
GSTM1 GSTT1 GSTP1

Conjugation

(glutathione

s-transferase)

GST detoxifies many water-soluble environmental toxins, including solvents, herbicides, fungicides, and heavy
metals (e.g., mercury, cadmium, and lead). Defects in GST activity can contribute to fatigue syndromes and
many cancers.
Oxidative
SOD1 SOD2

Protection

(superoxide

dismutase)

Mutations affecting these antioxidant enzymes can lead to increased free radical activity and cell damage, and
may increase the risk of developing neurodegenerative disorders.
2. Phramacogenetic Optimum Profile

This test:
Identifies an individual's susceptibility to adverse drug reactions
Examines the inherited variations in genes that dictate drug response
Explores the ways these variations can be used to predict how a patient will metabolize a medication
PHASE
CYP2C19 CYP2D6 CYP2C9

I:

CYTOCHROMEP-450

Phase I is the first line of defense in the detoxification of all environmental toxins, including pesticides, herbicides,
pollutants, and solvents, pharmaceuticals and nutraceuticals, as well as many of the body's own waste products
(including steroid hormones).
3. Phramacogenetic Warfarin (Coumadin) Profile
The test uncovers potential genetic susceptibility to drug reactions to Warfarin (Coumadin) and recommends
appropriate dosage based genetic variations of in CYP2C9 and VKORC1.

GenoSolutions
offers
one
the Cardiogenomic Premium Profile.

cardiogenomic

test,

This test:

Evaluates polymorphisms that modulate blood pressure, clotting factors, cholesterol balance, lipid
balance, nutrient metabolism, inflammation, and oxidative stress
Uncovers genetic susceptibility to hypercholesteremia, atherosclerosis, obesity, hypertension, coronary
artery disease, myocardial infarction, thromboses, endothelial dysfunction, and stroke
Provides the basis for early nutrient-based prevention of cardiovascular disease
Cholesterol Regulation and Atherosclerosis
ApoE
CETP
SELE (selectin E)

(cholesteryl

(apoliprotein
ester

transfer

E)
protein)

These genes affect how the body breaks down and clears fats and how cholesterol is processed. They also
affect lipid balance, plaque formation, and blood vessel integrity and function.
Methylation
MTHFR (C677T G1298T polymorphisms)
Polymorphisms of this enzyme can disrupt the metabolism of B vitamins (including folate), potentially leading to
the build-up of homocysteine. The presence of these SNPs can increase risk of cardiovascular disease, blood
vessel damage, thromboses (blood clots), stroke, and degenerative aging.
Hypertension
GNB3
(guanine
AGT
AGTR1 (angiotensin II receptor-1)

nucleotide-binding

protein)
(angiotensin)

Polymorphisms of these genes are associated with blood vessel constriction, sodium and water retention,
obesity, and increased susceptibility to hypertension.
Coagulation
Factor
Factor
PAI-1
GP3a (Glycoprotein 3)

2
5
(Plasminogen

activator

(prothrombin)
(Leiden)
inhibitor-1)

These genetic variants can over-activate blood clotting processes, increasing the risk of sudden cardiac events
such as thromboses, heart attacks, and strokes.
Reduction-Oxidation Balance
CYBA*8 (cytochrome b-245-alpha)
This genetic variant mediates the balance between oxidative stress and antioxidant defense in smooth muscle
cells lining blood vessels.

GenoSolutions offers a very comprehensive estrogenomic test.

This test:

Evaluates polymorphisms that modulate estrogen metabolism, coagulation, cardiovascular disease and
osteoporosis
Uncovers genetic susceptibility to breast cancer, osteoporosis, thromboses, stroke, atherosclerosis,
and heart disease
Estrogen Metabolism

CYP1A1 CYP1B1 COMT (catechol-O-methyl transferase) GST (M1 and P1)

These genes affect how the body breaks down and clears estrogen and its metabolites. The SNPs primarily
focus on the cytochrome P450 enzymes that metabolize estrogen and lead to the formation of anti- or
procarcinogenic metabolites such as 2-OHE1 and 4-OHE1, respectively. These genes effect the distribution of 2OH Estrone & 16-OH Estrone, whose ratio is associated with breast cancer and osteoporosis.
Hyper Coagulation
GP3a
(Glycoprotein
3)
Factor 2 (prothrombin) Factor 5 (Leiden)

PAI-1

(Plasminogen

activator

inhibitor-1)

These genetic variants focus on estrogen's interaction with some of the key constituents of the clot formation and
fibrinolysis process, such as clotting factors and inhibitors of fibrinolysis. They can over-activate blood clotting
processes, increasing the risk of sudden cardiac events such as thromboses, heart attacks, and strokes;
especially in those women take supplemental estrogens and oral contraceptives.
Cardiovascular
ApoE
(apoliprotein
E)
MTHFR
(C677T
TNF-alpha (-308 G-A polymorphism) IL-6 (-174G-C polymorphism)

&

G1298T

polymorphisms)

These genes affect how the body processes cholesterol, responds to inflammation, and metabolizes Bvitamins.
The presence of these SNPs can increase risk of cardiovascular disease, and blood vessel damage.
Osteoporosis
VDR
(BsmI
RFLP)
COL1A1(2046
TNF-alpha (-308 G-A polymorphism) IL-6 (-174G-C polymorphism)

G-T

polymorphism)

Osteoporosis SNPs relate to estrogen's influence on inflammation, bone resorption, vitamin D, and collagen
formation.

GenoSolutions offers one Immunogenomic test:

Evaluates polymorphisms that modulate immune and inflammatory activity, affecting immune system
defense and resistance to infection
Evaluates chronic inflammatory mechanisms in asthma, allergy, arthritis, and auto-immune disorders
Uncovers genetic susceptibility to asthma, auto-immune disorders, certain cancers, bone inflammation,
arthritis, H. Pylori (ulcers), heart disease, and osteopenia
Chronic Inflammation
IL-1 (interleukin-1beta)
This gene affects the duration and intensity of the acute inflammatory response. The polymorphism leads to
increased stimulation of pro-inflammatory agents such as COX-2 and prostaglandins, reduced ability to shut
down inflammatory cascades, and increased susceptibility to H. pylori infection. H. pylori infection has been
associated with gastric cancer.
TH-1 Cytokines (Viral Infection & Cancer)
TH-1
TNF-alpha (tumor necrosis factor-alpha)

Cytokines

Polymorphisms of this gene affect cell-mediated immunity, increasing production of the pro-inflammatory cytokine
TNF-alpha. This can promote or exacerbate chronic conditions such as arthritis, osteoporosis, and asthma.
TH-2 Cytokines (Allergy, Asthma, and Atopy)
IL-4
IL-4
IL-10
IL-13 (interleukin-13)

(interleukin-4)
(interleukin-4)
(interleukin-10)

TH-2 cytokines promote humoral immunity, including the synthesis of IgE. They are generally regarded as antiinflammatory; however, excessive activity of some of these cytokines may promote the development of allergic
conditions such as atopy, asthma, and hypersensitivity. Low levels may result in chronic inflammatory conditions

characterized by a TH-1 response. IL-6 has both pro- and anti-inflammatory properties; this cytokine drives the
acute phase response and can promote chronic inflammation and progression in autoimmune disease.

GenoSolutions offers one Neurogenomic test:

Evaluates polymorphisms in genes that modulate methylation, glutathione conjugation, oxidative

protection, and the potential to evaluate vascular oxidation.
Uncovers genetic susceptibility, neurodegenerative disorders, developmental issues, mood disorders,
oxidative stress and detoxification capacity
Methylation
MTHFR
COMT (catechol-O-methyl transferase)

(methylenetetrahydrofolate

reductase)

These genes affect how homocysteine and methionine are metabolized to support formation of S-adenosyl
methionine (SAMe). The ability to donate methyl groups affects neurologic function and is modifiable by proper
B-vitamin intake.
Detoxification
GSTM
(glutathione-s-transferase,
GSTP (glutathione-s-transferase, P, isoforum)

M,

isoforum)

These genes are responsible for detoxifying products of oxidative stress and carcinogens. Variants decrease
detoxification capacity.
Oxidative Protection
SOD-2 (Superoxide dismutase -2)
These genetic variants alter anti-oxidant enzyme activity and modify requirements for anti-oxidants.

GenoSolutions offers one osteogenomic test. This test:

Evaluates polymorphisms that modulate bone formation (collagen synthesis), bone breakdown
(resorption), and inflammation, including key regulatory mechanisms affecting calcium and Vitamin D3
metabolism
Helps identify individuals who may need more than standard bone therapy to prevent osteoporosis
Uncovers genetic susceptibility to low bone mineral density, osteoporosis, osteopenia, age-related bone
fractures, and arthritis
Bone Formation
COL1A1
CALCR
VDR (Vitamin D3 receptor)

(collagen

1,
(calcitonin

alpha-1)
receptor)

These genes affect the synthesis of collagen (the primary fibrous tissue in bone and cartilage), the metabolic
actions of the hormones calcitonin and Vitamin D3, the activity of osteoblasts (bone- building cells) and
osteoclasts (bone-eroding cells), as well as the regulation of calcium absorption.
Bone Resorption/ Inflammation (Allergy, Asthma, and Atopy)
IL-6
TNF-alpha (tumor necrosis factor-alpha)

(interleukin-6)

These genes influence the regulation and activity of pro-inflammatory cytokines. Variations in genotype are
associated with chronic inflammation that may increase bone resorption and risk of osteoporosis.

GenoSolutions offers one inflammation test.

This profile is a unique genotype-phenotypic assessment that evaluates genomic risk of inflammation,
as well as the current expression of the latter
Uncovers potential genetic susceptibility to chronic inflammation, increased risk of H. Pylori, insulin
resistance, increased risk of asthma, atherosclerosis, hypertension, and coronary artery disease
Includes a phenotypic evaluation of hs C-reactive Protein (CPR), homocysteine and fibrinogen
Interleukin 1-beta (IL-1b):
Health implications include increased production of IL-1b with an increased tendency to chronic inflammation,
and decreased production of gastric hydrochloric acid, which may affect protein digestion and increase risk of H.
pylori infection Interleukin 6 (IL-6): Health implications for the "wild type" genotype include higher baseline IL-6
levels, insulin resistance, and inflammatory conditions such as osteoporosis and atherosclerosis.
Tumor Necrosis Factor- alpha (TNF-a): alpha (TNF-a): Health implications include increased production of
TNF-a, increased inflammatory tendency, increased risk of asthma and atopy, osteoporosis, artherosclerosis,
and insulin resistance.
Methylene Tetrahydrofolate Reductase (MTHFR): Health implications include decreased methylation capacity
(>50% reduction), and increased risk of elevated homocysteine levels, may alter capacity for neurotransmitter
synthesis (serotonin and catecholamines), DNA synthesis, carnitine and Co-Q10 synthesis (energy metabolism),
detoxification, and detoxication of heavy metals.
Selectin E (SELE), or endothelial leukocyte adhesion molecule-1, participates in the interaction between
leukocytes and the endothelium of blood vessels and is involved in the pathophysiology of atherosclerosis.
Angiotensin 1 (AGT), is a polypeptide hormone that stimulates smooth muscle contraction as well as sodium
and water retention, resulting in elevated blood pressure. It is also associated with increased AGT production and
consequently with essential hypertension and coronary artery disease.
Phenotypic Evaluation includes:
hs C-Reactive Protein (CRP): Short-term elevations of hs CRP can occur with fever, Inflammation and viral or
bacterial infections, so these are important factors to note at the time of sample collection. The hs-CRP reflects
inflammatory processes which, if chronic, confer increased risk of cardiovascular and other diseases.
Homocysteine: Elevated homocysteine is a key independent risk factor for cardiovascular disease. Smoking
and hypertension increase cardiovascular risks associated with high homocysteine. B-complex vitamins, such as
folic acid, B6 and B12 are typically able to decrease homocysteine levels.
Fibrinogen: Fibrinogen is manufactured by the liver and is an important participant in the normal clotting
process. Elevated levels of fibrinogen enhance coagulation and increase blood viscosity. Factors such as
inflammation, smoking stress, oral contraceptives, aging and obesity may significantly increase fibrinogen levels.

You are considering of taking a genomic risk assessment test here are some benefits to ponder, these
test:
Identify hidden risks in healthy-appearing individuals and provide early warning before onset of disease
Allow for implementation of timely, customized prevention programs tailored to each individual
Decrease the chance that a patient will be the victim of an adverse drug reaction
Enable an individual to control weight, by identifying nutrients missing from a diet, the lack of which is
often the cause of food cravings that lead to weight gain
Help individuals reduce their susceptibility to the big three diseases - heart disease, cancer and
diabetes - by harmonizing their diet and lifestyle with each their genome
Our genetic diagnostic tests help identify rare genetic disorders and prenatal disorders.

Stem cells differentiate into several kinds of cells as well as indefinitely renewing and dividing themselves.
GenoSolutions offers long-term adult and umbilical cord stem cell banking to provide you with the means to
collect and store your own adult or your babys stem cells for potential future use.
Several therapeutic uses for stem cells are presently being used and many new clinical applications are being
developed in the exciting field of Regenerative Medicine.
The list of diseases treated with stem cells is growing every year as researchers study this fascinating
field:

1.
2.
3.
4.
5.
6.
7.

Heart Attacks. Doctors have infused stem cells into the damaged heart muscle of numerous heart
attack patients to see if the cells would generate new heart tissue and repair the damage. Results so far look
promising.
Coronary Artery Disease. Doctors have infused stem cells in the hearts of patients with clogged
arteries. The stem cells helped new blood vessels grow around the blocked arteries, thus improving blood flow to
the areas in the heart at risk of damage.
Vascular Disease. Stem cells have been shown to grow new blood vessels around narrowed or
damaged arteries in the limbs and restore impaired blood flow.
Nerves and Brain Damage. Researchers have recently shown in a laboratory setting that human stem
cells can mature into nerve cells. The implications are astounding since it opens the possibility for treating a
variety of neurological problems.
Strokes. Researchers have shown that infusing human stem cells into rats improves brain function
after a stroke or traumatic brain injury.
Multiple Sclerosis. Doctors have infused stem cells into patients with MS and have shown mild
improvement in their disease.
Cancer and other blood-related disorders. Besides these exciting possibilities, there are still the
current uses for treating certain cancers and other blood problems. Recent research in the field of Oncology
showed that the chance of a person needing his or her own banked stem cells for current treatments, by the time
they are 21, is one in 2700, and the chance that a family member could use them is one in 1400.
In the adult organism, adult stem cells are present in organs like the bone marrow, the skin or the gut, which
have high degrees of cell loss and require constant cell replacement. The adult stem cell is a primitive cell that
can transform into many different types of cells such as blood cells, nerve cells or heart cells. Because
GenoSolutions collects your own stem cells, for your own use, there are no ethical issues involved as with the
use of embryonic stem cells, nor are there concerns about rejection of the cells.
Regarding the different types of stem cells, those present in bone marrow and cord blood are among those with
the highest immediate therapeutic applicability. GenosSolutions offers you the ability to collect and bank both.

FOR THE END USER

"Today, we know that rather than viewing our genetic makeup as a hand of cards that have already been dealt,
we have the power to use the information encoded in our genes to help us make informed choices that will
maximize our genetic potential, will make you lose weight, and keep you forever young. Genetic risk is not
absolute, and your individual genetic profile, along with how you choose to live, are major determinants of how
your risk will play out in the long run."
-Ruth Debusk, It's not Just Your Genes, BKDR, Inc. Publishing, 2006
Consider the following analogy. It would be very difficult for anyone to win at poker if they were never allowed to
see what cards they had been dealt. They would have no way of knowing which cards to keep or which cards to
discard. Similarly, until they understands their genetic strengths and weaknesses, through our genomic testing
and through our counsel relative to prevention and therapeutic strategies, they won't know how to play the
genetic 'hand' life has dealt them. Without that information, there will be no clear way of knowing if clinical
interventions are addressing their most important individual risks and needs.
GenoSolutions also offers a battery of pharmacogentic tests directly to end users, which are also available in
pharmacies (click here to find out which pharmacies carry these tests). The purpose of these tests are to
minimize adverse drug reactions and help physicians and pharmacists prescribe or recommend medications,
OTC (over the counter) or herbal medicines that are correctly metabolized by the patient in their appropriate and
individualized dosage.
GenoSolutions also offers Clinical Genomic applications, including the emerging science of personalized genenutrition, also called nutrigenomics to design personalized therapies, diets and lifestyle programs for women
and men. These programs ensure that optimal disease prevention and best quality of life is reached, based on
each person's specific genetic profile.
GenoSolutions makes available information about the multiple benefits of preventive anti-aging genomic
therapeutics to practicing physicians, and acts as an information center for valid medical protocols. In particular
GenoSolutions is a founding sponsor and co-organizer of the first The First Annual Congress on Anti-Aging
Medicine and Biomedical Technologies in Iberia. We also offer professional development courses for
physicians, scientists, and members of the public at large in the area of preventive anti-aging and genomic
therapies.
Adverse drug reactions, (ADRs) usually called side effects, are a long-standing and largely neglected major
medical problem. These are not medical errors and occur within the FDA or INFARMED or any other regulatory
national board approved dosage and labeling recommendations. The recently reported problems with
antidepressant induced teen suicides, the recalls of Vioxx and Baycol shows some of these problems.
Research shows that of all the clinical factors such as age, sex, weight, general health and liver function that
alter a patient's response to drugs, genetic factors are the most important.

Approximately half of the world population has genetic defects that affect how they process these drugs. There
are four different types of metabolizers, and we all fall into one of these categories for the variable pathways in
Cytochrome P450 (this Cytochrome is responsible for creating the enzymes that process chemicals of all kinds
through our bodies.) The easiest way to understand this is to picture a two lane highway.

If you are the first type, which is the norm, you would be an EXTENSIVE METABOLIZER. Both lanes of
the highway are open and moving. Medications prescribed in normal doses will be metabolized by your body.
If you are the second type, you would be an INTERMEDIATE METABOLIZER. This means that one
lane of that highway is open and moving and the other lane is not, causing you to metabolize the medications
more slowly. In this case you will need a lower dosage, and there is a chance of medications building up in your
system causing adverse effects. It is especially important to monitor medications if you are in this category.
The third type is a POOR METABOLIZER. In this case both lanes of the highway would be stopped.
There is a possibility that alternate routes can be found, but this type of metabolizer is potentially very dangerous,
as there is a great chance for the medication to build up in your system making you very sick, or even killing you.
For example, a poor metabolizer of phenytoin, a common antiepileptic would not be able to process the drug and
would actually have an increased rather than decreased risk of seizure if prescribed this drug.
The fourth type of metabolizer is ULTRA EXTENSIVE METABOLIZER. This means you have additional
lanes for processing, picture an Indy 500 speedway. In this instance, you literally burn through medications. If
you were an Ultra extensive metabolizer through the 2D6 pathway and while in surgery and your doctor gave you
codeine as a pain killer, you would receive no pain relief because the codeine would be metabolized so fast that
it would have little or no effect on you.
The use of DNA drug reaction testing or pharmacogenetic testing has the potential to save tens of
thousands of lives, prevent hundreds of thousands of serious events that initiate or extend hospital stays, and
save hundreds of millions of euros in health care costs.
Who should be tested? Everyone that is considering taking a particular medication should be tested but
in particular the elderly and children should do this test.
Testing the Elderly
Elderly patients have a decreased capacity to detoxify drugs they are taking. Drug interactions are also an
important contributor to adverse drug reactions, which makes the aging population vulnerable because of the
large number of drugs they are taking.
Testing Children
Few drugs are tested in children prior to release. Many are used off label in pediatric populations. For example,
only Prozac (fluoxetine) has been approved for use in children, yet many others are prescribed off label. While
the rate of adverse drug reactions in children is lower than in adults, children with severe medical conditions are
the most affected.
To read further on the advantages of our pharmacogenetic test please click here.

Optimize your health by optimizing your personal diet and supplement intake. Genetic testing, combined with a
lifestyle assessment, provides you with a scientifically based, personal blueprint for optimizing health.
GenoSolutions Nutrigenomic Profile examines your personal variations in genes that scientists have shown play
major roles in your body's heart and bone health, detoxification and antioxidant capacity, insulin sensitivity, and
tissue repair. Our nutrigenomics test results, combined with information from your completed lifestyle
questionnaire, result in personalized, realistic steps you can take to improve and maintain your good health.
We all know our health is influenced by what we eat, drink and other well-known lifestyle choices that we make.
The latest scientific research shows that for each of us these choices can have greatly differing effects on our
health.
Small differences in your genes influence how well your body metabolizes foods, utilizes nutrients and excretes
damaging toxins, all of which can affect your general state of health. By finding out if you have any of these
variations, you can modify your diet and lifestyle choices to achieve optimum nutrition and health.
For example, if some of your genes place you at risk for heart disease, modifying your diet and exercise habits
now will decrease the chance of the disease developing. If your body is not efficient with B vitamins, an important
factor in skin renewal, a modified diet or daily supplement can provide you with the proper amount for healthy
skin.
GenoSolutions Nutrigenomic Profile report contains:

The genetic profile for several genes important to individual nutritional status.
Specific nutritional supplement advice based on genetic makeup.

Personal diet and lifestyle advice for each of the genes tested.
General information on genes, nutrition and health.
A guide to vitamins and minerals. What they do and how to include them in your diet.
A resource directory listing sources for supplements.
Definitions of key terms.
To read further on the advantages of our nutrigenomic test please click here.

The Genome Structure

"Imagine
the
genome
is
a
book.
There
are
twenty-three
chapters,
called
CHROMOSOMES.
Each
chapter
contains
several
thousand
stories,
called
GENES.
Each story is made up of paragraphs, called EXONS, which are interrupted by advertisements called INTRONS.
Each
paragraph
is
made
up
of
words,
called
CODONS.
Each
word
is
written
in
letters
called
BASES.
There are 1 billion words in the book which makes it longer than 800 Bibles."
-Matt
Ridley.
Genome:
Mendelian Inheritance

an

Autobiography

of

Species

in

23

Chapters.

New

York:

Perennial,

1999.

We do not inherit a disease state per se. Rather, we inherit a set of susceptibility factors to environmental
influences that modify the risk of developing a disease.
Genetic susceptibility factors help explain why individuals are affected differently by the same environmental
factors. For example, some health conscious individuals with "acceptable" cholesterol levels suffer myocardial
infarction at age 40. Other individuals seem immune to heart disease in spite of years of smoking, poor diet, and
obesity. Genetic variations account for, at least in part, this difference in response to similar environmental
factors.
Nowadays many people are choosing to become more proactive about their health. Why? Again, because, in
large part, diet, nutrition, and lifestyle factors can exert a strong influence on how, or even if, a gene will express
itself. Knowing about increased risk (and specific risk reduction strategies)-and knowing about them as early as
possible-is the first step towards an effective primary prevention program.
The genomic revolution is happening now. Medicine will never be the same. A new era of truly individualized
medicine is rapidly becoming a clinical reality for practitioners and their patients.

1.
2.
3.

Deoxyribonucleic acid (DNA) is the chemical inside the nucleus of a cell that holds the genetic
instructions to create living organisms. DNA has three known functions:
DNA replicates itself
DNA codes for RNA, which in turn codes for proteins (the primary building blocks of the cell, the
tissues, and the body)
DNA regulates gene expression, allowing for
Cell growth
Cell differentiation
Cell replication
Programmed cell death
The structure of DNA is complementary. It is built from deoxyribose (a sugar), phosphate groups and four
nucleotides or bases: adenine, cytosine, guanine, and thymine (mercifully abbreviated to A, C, G, and T).
Adenine can only bind with thymine, and cytosine can only bind with guanine, producing the complementary
structure. The 3-dimensonal structure of DNA is like a ladder that has been twisted around its vertical axis: the
deoxyribose and phosphate form the 'rails' of the ladder, while pairs of A & T and C & G form the 'rungs'. The
advantage of the complementary structure is simply that the DNA 'ladder' can split with each half binding to
complementary nucleotides in order to make two perfect copies of the original DNA.
If all the DNA in a single human cell were unraveled and stretched out into a straight line, it would measure about
2 meters (6 feet). Given the 100 trillion or so cells in your body, if all the DNA in all your cells were stretched out
in a straight line, it would reach to the sun and back a thousand times.

1.
2.
3.

Genes are those sections of the DNA that code for ribonucleic acid, or RNA. The complementary binding
of nucleotides to one another allows DNA to code precisely. RNA delivers DNA's genetic message to the
cell cytoplasm, where proteins are made. RNA is structurally similar to DNA except:
RNA is single stranded;
RNA uses the nucleotide uracil (U) in the place of thymine;
RNA's 3-nucleotide codons (think of them as "3-letter words") code directly for specific amino
acids, allowing for the synthesis of proteins in ribosomes.

Heredity is dependent on the genes found within the entire genome. The average gene is about 3,000
nucleotides long, but this can vary considerably. Surprisingly, only about 3% of the human genome is actually
used by and for human physiology.

1.
2.
3.
4.
5.

The Laws of Heredity are few; their implications for life are vast. The simplest genetic characteristics are
those whose presence depends on the genotype at a single locus; i.e., one gene controls the expression
of one characteristic. Such characters are known as Mendelian, after their original discoverer, the
Austrian botanist Gregor Mendel. Over 10,000 Mendelian characters have been identified in humans. In
sum, Mendel's Laws of Heredity state that:
Each physical characteristic corresponds to a single gene
Genes come in pairs
Only one gene of the pair is passed on to the next generation by each parent
It is equally probable that either gene will be passed on
Some characteristics are "dominant" while others are "recessive."
A trait (character) is dominant if it is expressed in the heterozygote (only one of the chromosome pair carries the
gene) and recessive if it is only expressed in a homozygote (both chromosomes carry the gene). Dominant and
recessive are properties of traits, not of genes themselves.
These pedigree patterns are not always as evident in humans as in the pea plants that Mendel originally studied
to define these concepts. This is due to a number of confounding factors, chief among them being incomplete
penetrance. The penetrance of a character is the probability that a person with the genotype will manifest the
dominant character. Other confounders include delayed onset of late-age genetic disorders, multi-gene effects,
and variable expression of genes (different features of a single genetic syndrome will appear in similarly affected
individuals). In addition, spontaneous mutations can occur where no pedigree association exists.
Mendelian inheritance patterns were the first evidence to unlock the mysteries of heredity. While 10,000 traits are
known to be Mendelian, at least as many traits are non-Mendelian. Height, intelligence, personality, and a
thousand more characteristics of creatures are multifactorial - controlled by the interaction of numerous genes,
each independently assorted. Furthermore, the same confounders for simple Mendelian inheritance (incomplete
penetrance, environmental influences, spontaneous mutations) also occur in characteristics determined by
multiple genes-but their effects are exponentially multiplied.
Still, the Laws of Heredity have taught us much. They form the basis from which we can begin to understand
dynamic interactions between genes within the genome and between the genome and the environment.

An adverse drug reaction tragedy

Genetic tests to prevent adverse drug reactions may save tens of thousands of lives a year, but for a troubled
boy named Michael they came too late.
The story below is here replicated with permission of Fortune magazine.
Click here to download in PDF format.

FOR THE PHYSICIANS

If you are a clinic or an individual physician and want to order our tests you need first to be
accredited by GenoSolutions. This accreditation consists of a short training course to help your
group of physicians to be fully conversed in this new area of genomic clinical applications. Once
you have obtained the certification we will be pleased to send you our test kits so you can join
our growing list of clinics and physicians that use our tests. You will also have an account with
us, which will give you access to viewing your orders online in our protected servers and the
subsequent results of your tests. Click here to call your medical representative and start your
accreditation process.
If you are already an accredited health provider you should log into your account in our
registered area and order your test kits in this area.
If you are a licensed pharmacists in Portugal, Spain, Brazil, Argentina, or Angola and would like
to order our tests please contact us here so we may direct you to the appropriate distributor in
your country. You can also call us directly.
Welcome to GenoSolutions' guide to clinical Genomics, designed to bring current genetic research into a
meaningful clinical context for practitioners, providing critical background information and defining key
concepts.
Virtually all-human diseases result from the interaction of genetic susceptibility and modifiable environmental
factors. These environmental factors include: infectious, chemical, physical, nutritional, and behavioral factors.
Slight variations in genetic makeup called Single Nucleotide Polymorphisms (SNPs-pronounced "snips" or
"polymorphisms" for short) are associated with almost all diseases.
Genetic variations themselves do not cause disease but rather influence a person's susceptibility to specific
environmental factors that increase disease risk.
GenoSolutions through its partnering with Genova Diagnostics USA, offers a unique line of Predictive Genomic
Diagnostic Profiles. Each profile focuses on a carefully selected set of polymorphisms associated with a
particular disease or physiologic imbalance (e.g. cardiovascular, bone metabolism).

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Though many polymorphisms can be related to a particular disease or function, not all are clinically
useful. To assure clinical value, we assess only SNPS that meet four critical requirements:
Relevancy: The activity of individual proteins and enzymes can be simultaneously coded by tens or
hundreds of polymorphisms.
Prevalency: Our selected polymorphgisms carry clinically significant population prevalence. These are
relatively common genetic predispositions associated with extremely prevalent conditions.
Modifiability: Our profiles focus on genetic variations whose expression is influenced by environmental
factors. Each profile contains intervention options based on the patient's genomic pattern. Commentary provides
specific risk reduction strategies, including dietary, nutritional, lifestyle, and pharmaceutical interventions.
Measurability: For each polymorphism, our profiles provide recommendations for follow-up functional
laboratory testing. These functional assessments evaluate and monitor phenotypic expression of genetic
tendency, functional integrity, and metabolic reserve.
GenoSolutions profiles can be applied to three broad areas of clinical relevance:
Genomic Testing for Challenging Cases- for chronic diseases that arise from multifactorial etiologies.
Familial Association Testing- for identifying inherited risks within families.
Predictive Genomic Testing- for more precise, proactive health risk screening.

Genetics is the scientific study of heredity, one gene at a time. Genomics is the study of genomes, or the totality
of the DNA of a single species. While genetics studies the laws of inheritance in an isolated and linear fashion,
Genomics attempts to look at all our genes together as a flexible, dynamic system over time, interacting with and
influencing our biochemical pathways and physiology.
The Human Genome Project is the mapping and sequencing of the entire human genome. The first draft of the
entire human genome was published in April 2001, almost exactly one hundred years after the rediscovery of
Mendel's "Laws of Heredity." The human genome consists of slightly more than 3 billion nucleotides (give or take
a hundred million) and it codes for every protein and every enzyme made by the human body. Some 30,000 to

40,0000 thousand genes are thought to exist in the human genome, yet we know the function of slightly less than
half of those genes.
The concept of "biochemical individuality" was first proposed by Roger Williams in 1956 to explain variability in
disease susceptibility, nutrient needs, and drug responsiveness among otherwise seemingly healthy people. It is
only in the wake of the ongoing genomic revolution, however, that predictive genetic testing has become
available to allow us to assess true biochemical individuality. For the first time, physicians can gauge with
increasing precision who is more likely to develop specific diseases, who will respond favorably (or react
adversely) to a particular drug or supplement therapy, and finally, which nutrients are optimal for a particular
individual's health and well-being.
As primary care practitioners, we stand at a critical crossroads where increases in availability of DNA-based
testing and demand by patients for genetic information and advice necessitate our need to become both
genetically literate and genomically competent.
New methods of investigating the genome are now being aimed at better understanding the multifactorial etiology
of the most prevalent and debilitating health conditions that humans face-opening up the potential for astounding
clinical applications.

A polymorphism is a variation in the DNA genetic code that occurs in a subset of individuals. Polymorphic
variation conveys greater or less susceptibility toward specific diseases by improving or impairing physiological
function. The most common type of polymorphism is known as a single nucleotide polymorphism (SNP) in which,
as we have said, a single nucleotide in a gene is changed.
GenoSolutions Genomic tests assess genetic polymorphisms, deletions, and allelic variances- not expressive
Mendelian traits. That is, the phenotypic expression (trait) of each SNP we test does not depend upon the
dominant or recessive nature of the trait. Rather, the potential strength of expression of a SNP often depends
upon whether it resides upon one chromosome (heterozygote positive) or both chromosomes (homozygote
positive), as well as the environment to which it is exposed.
Polymorphism analysis may be critical for the complete understanding of complex human diseases since certain
genotypes (forms of a gene) will be consistently associated with the development of particular diseases - both
acute and chronic. Aberrant genes produce aberrant proteins and enzymes. By identifying the genetic
aberrations, we may come to a more complete understanding of the molecular basis of diseases, from which
novel therapeutics may arise.
To this end, it has become increasingly important to identify SNPs in individuals that confer greater risk or
protection in developing chronic diseases. Those SNPs that are most important clinically are the SNPs that are
relevant to the development of common chronic diseases, that are prevalent to a reasonably high degree in the
general population, whose physiological effects are modifiable using diet, nutritional intervention, lifestyle
changes and specific pharmacological intervention, and whose phenotypic expression is measurable by
laboratory analysis. In other words, clinically important SNPs must be relevant, prevalent, modifiable, and
measurable.
GenoSolutions Genomic tests are currently available for numerous chronic diseases, including
cardiovascular disease, osteoporosis, detoxification impairments, and immunological defects associated
with gut associated lymphoid tissue (GALT) and chronic inflammatory conditions. In each of these areas,
functional laboratory testing also exists which allows the practitioner to assess the dynamic integrity
and metabolic reserve of associated physiological systems. The combination of genomic SNP analysis
and functional laboratory testing thus provides a novel, effective, and comprehensive method for
assessing genetic risk, phenotype expression, and physiological function.

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Which patients would benefit most from predictive genomic diagnostics? Currently, three broad areas of clinical
genomics are rapidly advancing. These focus on genomic testing for:
Challenging Cases- for patients with chronic diseases characterized by multifactorial etiologies
Familial Association Testing- for patients with a family history of a specific chronic disease who want
to identify their inherited risks
Predictive Genomic Testing- for proactive patients who desire earlier, more precise health risk
screening
Genomic Testing for Challenging Cases
SNPs that influence important biochemical pathways can alter critical health-supporting functions. Consider the
body's detoxification capacity and its ability to maintain proper immune surveillance. Multiple variations in the
genes that code for cytochrome p-450 enzymes, as well as glutathione-s-transferase and N-acetyl transferase,

have been identified and are known to play important roles in adverse drug reactions, drug resistance, as well as
the development of complex syndromes like multiple chemical sensitivity and cancer. This potential may be
modulated by the body's burden of oxidative stress.
Alterations in immune parameters can be identified through SNPs that affect the production of interleukins and
TNF-a. Genetic up-regulation of the production of these cytokines can lead to a TH-2 dominant state with
increased incidence and severity of chronic inflammatory disorders such as irritable bowel disease and allergies.
The phenotypic expression of SNPs can frequently be modified through targeted dietary and lifestyle choices,
clinical nutrition, and judicious pharmacological intervention. Alternative biochemical pathways can also be
supported to minimize the phenotypic impact of defective enzyme systems. Furthermore, functional laboratory
testing is available to monitor the phenotypic modifications in physiology elicited by these interventions. A
person's genetic predisposition will never change. What can be altered is the environmental, biochemical, and
physiological factors that influence the expression of those genes.
Genomic Testing for Famillial Association
Patients with a "family history" of chronic illnesses like heart disease, osteoporosis, chronic fatigue, or
inflammatory disorders are particularly good candidates for GenoSolutions genomic tests. The specter of genetic
determinism looms large in the public consciousness - most people are convinced that our genes are our fate.
Nothing could be further from the truth. In fact, phenotypic expression of genomic determinants is largely
modifiable. It is becoming increasingly evident that who we are as individuals is a function of both our genetic
make up and the environment to which we subject our genes.
From another perspective, a patient's genes come from their parents, are shared (to a high degree) with their
siblings, and are passed on to their children. Thus, an individual's genetic polymorphisms are likely to be shared
by other family members as well. In that sense, all genetic tests are, by definition, familial. For this reason,
patients with positive SNPs may choose to share this information with immediate relatives (parents, siblings, and
children) to encourage proactive genomic testing. By identifying SNPs years before a disease has a chance to
develop, family members can take steps to potentially modify their expression and minimize their health impact.

Many patients are choosing to become more proactive about their health. They know that
nutrition and lifestyle factors exert a strong influence on how, or even if, a gene will express
itself. Knowing about increased risk and specific risk reduction strategies is the first step
towards an effective primary prevention program.
Through carefully targeted dietary, nutritional, and lif

GenoSolutions is dedicated to safeguarding patient privacy and the confidentiality of all patient
information. For this reason, your genetic test results are protected by a security code that is disclosed
only to the health care provider who ordered your test. The information otherwise will only be utilized
internally for company operational purposes and as required by law.
Your records, electronic and hard-copy, will be maintained under a strict policy of confidentiality. Our laboratory
will not release any patient records or details pertaining to services provided to any patients with any person
outside the Laboratory, including insurance companies, unless expressly authorized by the patient through their
practitioner.
In Portugal, we follow the guidelines of the "Comisso Nacional de Proteco de Dados".
All our tests required a signed consent form from the patient available in each test kit.
We also follow the legal framework of genetic testing outlined by the Counsel of Europe: Convention on Human
Rights and Biomedicine, Oviedo, 04 VI 1997. In particular Art 12 states that:" Tests which are predictive of
genetic diseases or which serve to identify the subject as a carrier of a gene responsible for a disease or to
detect a genetic predisposition or susceptibility to a disease may be performed only for health purposes or for
scientific research linked to health purposes, and subject to appropriate genetic counseling". In this manner most
of our tests require a prescription from a health practitioner.
In every new paradigm shift in medicine, ethical issues arise, as they should. Genomic testing is no exception.
Ethical concerns are likely to vary depending on the type of genetic testing performed. A distinction should be
made between diagnostic and predictive genomics.
In diagnostic genomics, the signs and symptoms of an individual are due to the presence of a (usually
Mendelian) genetic condition. By definition, symptoms are already present; the genetic testing is an attempt to
explain the condition. This is true of someone with refractory high cholesterol levels as well as someone with who
has symptoms consistent with cystic fibrosis.
In predictive genomics, there may be no clearly definable symptoms or syndrome since testing may be utilized to
predict the risk of developing some future condition. Effective therapeutics may be available and primary and

secondary preventative strategies may be attempted. Precision in predictive genomics depends on numerous
factors: the penetrance of the mutation, polygenic synergy, and environmental co-factors that affect gene
expression.
The current general consensus is that every individual has the right to seek genetic information. That right must
remain inviolate. However, the person seeking genetic information should be encouraged to share and discuss
the information acquired with other family members, since their risk may also be affected.
It is the duty of the practitioner to inform each patient of the risks and benefits associated with genetic testing.
The practitioner should present the pros and cons as objectively as possible without trying to sway the patient.
Such objectivity is known as non-directive counseling. A general concern for the patient may be: "Does the stress
of knowing he or she has a genetic anomaly outweigh the benefits of knowing?"
Fortunately, in functional genomic testing, practical intervention strategies are available and genetic diagnosis will
likely do far more to relieve stress rather than to increase it. Furthermore, phenotypic or physiologic progress
may be monitored using functional laboratory testing. GenoSolutions' predictive genomic diagnostics may be
the first step towards comprehensive risk reduction or comprehensive treatment strategy.

estyle changes, as well as pharmacological therapies, it is often possible to modify the

expression of genes and to overcome genetic limitations of biochemical pathways. Predictive
genomic testing allows us to be smarter clinicians, ones who can offer our patients more
effective, customized therapeutics with fewer unwanted side effects. Furthermore, these
therapeutic gains are clearly measurable through follow-up functional laboratory testing.