Bone disorders run in the family of nine-year-old Chloe Smith (not her real name). Her grandmother and mother both have been diagnosed with them. Upon the recommendation of her health care practitioner, Chloe’s family pursued various “genomics” tests that could look at her genetic predisposition for bone and inflammation issues. As suspected, the little girl had multiple genetic defects, termed polymorphisms. In conjunction with the family’s physician, Chloe was put on a preventive supplementation and nutritional protocol aimed at preventing the negative expression of the polymorphisms.
For those of us already practicing preventive health, the steps to prevent degenerative diseases through genetic testing or genomics, is here and, as you can see, is being employed. We all have genetic defects, but how or if we develop health issues is based heavily on our lifestyles resulting in how our genes may “express” themselves. Depending on the number and kinds of environmental and dietary “insults” that our bodies regularly endure, genetic polymorphisms can make a person more or less prone to developing certain diseases or physiological imbalances.
Through state-of-the-art preventive gene testing (via blood and saliva), detection and modification of risks can be made years, and even decades, earlier than established screening tools. It allows a previously unseen glimpse into each individual’s potential health future by assessing genetic susceptibility to conditions such as heart disease, osteoporosis, chemical sensitivity, adverse drug reactions, allergies and immune disorders. Then the individual can modify lifestyle habits to possibly reduce or eliminate the occurrence of disease later in life. Genetic defects do not indicate certainty of developing disease, but only the potential for increased risk as genes are exposed to certain lifestyle and environmental “triggers.” By modifying the factors that influence the expression of these genetic defects, you may gain the chance to exert a greater degree of control over your future health.
Following are examples of how preventive nutritional practices can reduce negative gene expression:
Researchers discovered that carriers of a certain genotype, specifically apolipoprotein E (ApoE) allele epsilon 4 (e4) may be at higher risk for developing Alzheimer’s disease. Preventive genomic testing for this cardiac/neurologic gene has been available for several years. Researchers went on to discover that those with normal vitamin B12 levels fared better than those with low levels. B12 supplementation was recommended as a prudent preventive for those with this gene defect.
Many studies have shown that fish oil supplementation and sufficient vitamin B12 levels inhibit another genetic polymorphism called tumor necrosis factor (TNF)-alpha. TNF-alpha gene expression is inflammation producing and has been linked with conditions such as rheumatoid arthritis, cancer and neurodegenerative disease.
A mutation of the gene called methylenetetrahydrofolate-reductase (MTHFR) can lead to diseases that include atherosclerosis, coronary artery disease, stroke, deep vein thrombosis, cervical dysplasia, cervical cancer, colon cancer, cognitive impairment, senility, Alzheimer’s disease, neural tube defects and preeclampsia. Supplementation with folic acid, and two other forms of folate — L-5-methyltetrahydrofolate and 5-formyl tetrahydrofolate — are the only known treatment at this time. Potentially, vitamins B5, B6 and B12 supplementation may be suggested as well.
The following individuals may benefit from using the preventive genomic approach to disease prevention:
* Persons with a family history of conditions such as heart disease or osteoporosis.
* Persons with chronic conditions, such as high cholesterol, chronic fatigue or chemical sensitivity that do not seem to respond to conventional treatments. Genomic evaluation can provide the basis for more precise, individualized interventions that are more likely to be effective.
* Persons who wish to know what medications they can tolerate.
* Persons who need to know how severely environmental toxicity affects their genes.
* Healthy persons who want more proactive risk assessment to avoid potential health problems before they develop. Prevention is generally easier and more cost-effective than management of a diagnosed disease.
The cost of this testing is still pretty pricey, from $300 to $2,000, depending on the extent of the testing. Insurance does not cover these screenings yet. Your licensed health professional can order the test kits, but be selective about who assists you in explaining the results.
A couple of companies that specialize in this are: Genova Diagnostics (www.genovadiagnostics.com) and Integrative Genomics (www.integrativeinc.com).
The U.S. National Human Genome Research Institute states: “Theoretically, the steps by which genetic risk information would lead to improved health are: (1) an individual obtains genome-based information about his/her own health risks; (2) the individual uses this information to develop an individualized prevention or treatment plan; (3) the individual implements that plan; (4) this leads to improved health; and (5) healthcare costs are reduced.
The benefit of genetic screening will change the practice of nutrition forever. Check with your health professionals to determine how soon they will begin implementing preventive genomics. Your health future is at stake!
Disclaimer: This column is for information only and no part of its contents should be construed as medical advice, diagnosis, recommendation, or endorsement by Ms. Minsky.
Bonnie Minsky is a Licensed and Certified Nutrition Specialist, Public Health Educator and Certified Menopause Educator with a private practice in Northbrook, Ill. She can be reached at nutritionalconcepts.com.