harnessing the ingenuity of new breakthroughs in
genomic science with the power of preventive biomedicine, Genovations™
offers an innovative, advanced health care model for more effectively
preventing and treating chronic disease.
predictive genomic profiles assess genetic variations in each person
that, when combined with modifiable factors in the environment, diet
and lifestyles, may increase disease risk or lower the risk when changes are made in diet, environment and lifestyles!
Virtually all-human diseases result from the interaction
of genetic susceptibility and modifiable environmental factors,
broadly defined to include infectious, chemical, physical, nutritional,
and behavioral factors.
predictive genomic testing is 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.
Who can benefit from genomic testing?
consideration at this point is: "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/Refractory Cases- for patients with chronic diseases
characterized by multifactorial etiologies
II. Familial Association Testing- for patients with a family history
of a specific chronic disease who want to identify their inherited
III. Predictive Genomic Testing- for proactive patients who desire
earlier, more precise health risk screening
Genomic Testing for Challenging/Refractory Cases
>> What causes disease and chronic illness?
treatment of challenging conditions (e.g. chronic fatigue syndrome,
irritable bowel syndrome, fibromyalgia, premenstrual syndrome, etc.)
requires immense diagnostic prowess and clinical expertise. What
were once viewed as a "symptom clusters" of unknown origin
are now understood to be the result of the failure of primary metabolic
or physiologic mechanisms. Patients with chronic conditions who
have been refractory to traditionally effective treatment are excellent
candidates for Genovations™ panels.
all-human diseases result from the interaction of genetic susceptibility
factors and modifiable environmental factors, broadly defined to
include infectious, chemical, physical, nutritional, and behavioral
SNPs are also known to play a role in the development of many chronic
diseases, genetic variations themselves do not cause disease. Rather,
SNPs influence a person’s susceptibility to environmental
factors. By examining conditions like heart disease, allergies,
chromic fatigue, and osteoporosis, we can demonstrate how genetic
testing for SNPs can play an enormous adjunctive role in developing
targeted interventions for these common clinical conditions.
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 ancer. This potential
may be modulated by the body’s burden of oxidative stress.
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.
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 phy siological
factors that influence the expression of those genes.
Why test patients with a family history of disease?
Familial Association Testing
with a "family history" of chronic illnesses like heart
disease, osteoporosis, chronic fatigue, or inflammatory disorders
are particularly good candidates for Genovations™ predictive
genomic diagnostics. 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.
many cases, the genetic variations we inherit are neither inherently
"good" nor "bad", but depend upon the environmental
context in which they occur. A familial genetic variation which
causes blood to clot excessively, for example, may help protect
the body in times of hemorrhage, but may increase the risk of life-threatening
thromboses as a person ages. A genetic variation that protects the
body in times of starvation by allowing it to conserve more energy
(fat), may increase the risk of obesity, heart disease, and diabetes
when it is chronically exposed to a modern Western lifestyle and
diet. Testing specific genetic factors in patients with a family
history of a chronic illness, then, allows us as practitioners to
determine which environmental contexts may pose the most severe
risk for these patients.
the following analogy. It would be very difficult for patients 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 patients understand
their genetic strengths and weaknesses (and gain your counsel relative
to prevention/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
another perspective, a patient’s genes come from their parents,
are shared (to a high egree) 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.
How can testing improve preventive therapy?
Predictive Genomic Testing
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.
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.
patients 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
carefully targeted dietary, nutritional, and lifestyle 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
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.
What are the risks and benefits?
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.
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.
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 ttempted. Precision in predictive genomics depends on numerous
factors: the penetrance of the mutation, polygenic synergy, and
environmental co-factors that affect gene expression.
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.
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 shehas a genetic anomaly outweigh the
benefits of knowing?"
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. Genovations™
predictive genomic diagnostics may be the first step towards comprehensive
risk reduction or comprehensive treatment strategy.
Is patient privacy protected?
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. Your 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.
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.
Additional resources for information related to privacy of genomic
GENETIC PRIVACY ACT AND COMMENTARY George J. Annas, JD, MPH - Leonard
H. Glantz, JD - Patricia A. Roche, JD http://www.bumc.bu.edu/ www/sph/lw/pvl/act.html
of Screening: Report of The Subcommittee on Screening of the American
College of Medical Genetics Clinical Practice Committee American
College of Medical Genetics http://www.faseb.org/ genetics/acmg/pol-26.htm
Genetic Research Threaten Our Civil Liberties? By Philip Bereano,
Ph.D., J.D. http://www.actionbioscience.org/ genomic/bereano.html
Issues in Pharmacogenetics By Carol Isaacson Barash, Ph.D. http://www.actionbioscience.org/ genomic/barash.html
The Next Step
now practitioners have been able to measure is pathology, function,
and environmental aspects of phenotype. Now, with the advent of
Genovations™ predictive genomic diagnostics, practitioners
can measure genotypic predisposition to many illnesses as well.
For the first time in the history of human medicine, we can now
truly measure the genetic predeterminants of an individual’s
health. Medicine can assuredly never be the same. As a clinician
committed to using the most specific and effective clinical diagnostics
for your patients, the time to begin utilizing genomic testing and
intervention strategies is now.
more information on genetic tests click on Genomic Profile of your
interest to the left.