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.