Genomic (Genetic) Testing
By 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.

Our 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!

Key Concepts
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.

Genovations™ 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?

A natural 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:

I. 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 risks
III. Predictive Genomic Testing- for proactive patients who desire earlier, more precise health risk screening

I. Genomic Testing for Challenging/Refractory Cases

>> What causes disease and chronic illness?

The 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.

Virtually 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 factors.

While 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.

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 ancer. 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 phy siological factors that influence the expression of those genes.

>> Why test patients with a family history of disease?

II. Familial Association Testing

Patients 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.

In 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.

Consider 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 and needs.

From 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?

III. Predictive Genomic Testing

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.

Many 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 prevention program.

Through 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 testing.

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.

>> What are the risks and benefits?

A Few Considerations


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 ttempted. 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 shehas 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. Genovations™ predictive genomic diagnostics may be the first step towards comprehensive risk reduction or comprehensive treatment strategy.

>> Is patient privacy protected?


Genovations™ 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.

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.
Additional resources for information related to privacy of genomic information:

THE GENETIC PRIVACY ACT AND COMMENTARY George J. Annas, JD, MPH - Leonard H. Glantz, JD - Patricia A. Roche, JD www/sph/lw/pvl/act.html

Principles of Screening: Report of The Subcommittee on Screening of the American College of Medical Genetics Clinical Practice Committee American College of Medical Genetics genetics/acmg/pol-26.htm

Does Genetic Research Threaten Our Civil Liberties? By Philip Bereano, Ph.D., J.D. genomic/bereano.html

Ethical Issues in Pharmacogenetics By Carol Isaacson Barash, Ph.D. genomic/barash.html

The Next Step

Until 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.

For more information on genetic tests click on Genomic Profile of your interest to the left.