Our genes are the blueprints for everything in our bodies. With the advent of genetic testing and literally thousands of genetic markers in the human body, how do we know what to focus on?
Genetic testing sounds helpful and concrete, almost like a personalized roadmap to health. But the reality is far less straightforward. In truth, only a handful of genetic markers are worth our attention. The rest simply bring confusion and unnecessary anxiety.
Genetic Predispositions
The codes that make up genes can have errors in them called single nucleotide polymorphisms, or SNPs. Varied SNPs can be associated with certain disease processes.
However, since the body’s traits are so complex, many different genes are responsible for the same types of characteristics. The entire system is filled with complications, redundancies, and layers. As a result, we can’t just point to one SNP as responsible for one problem.
When we look for specific SNPs, or markers, we see certain patterns that are more likely to cause problems. We label this as a genetic propensity for a disease. But predisposition is not destiny; a gene may exist without being expressed, especially if you take advantage of the Four Pillars of Health to suppress it.
The Misapplication of Genetic Testing
With over 20,000 genes in the body and many redundancies, genetic testing results are incredibly complex, resulting in much confusion regarding their usefulness.
For example, perhaps you get migraine headaches and discover genetics could be involved. You become interested in investigating your genes, only to learn that markers related to migraines are located in many (many!) places and testing is unlikely to deliver conclusive answers.
Even companies that perform complete human genome testing, with predictors mapped out by AI, struggle to deliver actionable results. Their tests are deeply complex, requiring significant counseling to interpret, and they’re wildly expensive.
Besides the complexity inherent in genetic testing, another issue is our response to the results. People are often more concerned with identifying genetic markers than they are with taking action to minimize their risks.
For example, ApoE-4 is an SNP that’s associated with Alzheimer’s disease. Since Alzheimer’s is a frightening disease, many people want to see if ApoE-4 lurks in their genetic makeup. Having ApoE-4 doesn’t mean you will develop Alzheimer’s; it just indicates a higher likelihood. What matters in its presence, then, is avoiding the lifestyle factors that encourage that gene’s propensity to express itself. Information without action is useless.
Further, harnessing the Four Pillars of Health to stay as healthy as possible is the primary way to suppress hazardous genes and promote beneficial ones. So even if you discover a particular genetic predisposition, the actions to mitigate your risk are the same as the recommendations for living a generally healthy life.
The bottom line: In most cases, knowing your SNPs is not helpful unless that knowledge results in the type of behavior change we should all be making anyway. (The major exception to this is with the BRCA gene, a marker for a certain type of breast cancer.)
Genetic Markers to Watch
Besides the more straightforward BRCA gene, there are a few genetic markers worth keeping an eye on. Let’s take a brief look at some of the most noteworthy:
ApoE4 Gene
ApoE is shorthand for apolipoprotein E, a gene that deals with the metabolism of lipids, or fats. ApoE comes in several types: ApoE2 (protective), ApoE3 (neutral), and ApoE4 (risky). ApoE4 can result in an increased risk for cardiovascular disease and Alzheimer’s disease.
Alzheimer’s is a neurodegenerative, chronic disease with no cure or significantly beneficial treatment. If you discover you have ApoE4, doing all you can to encourage suppression of the gene through healthy lifestyle practices reduces the likelihood of it being expressed.
COMT Gene
The catechol-O-methyltransferase (COMT) gene activates certain enzymes in the body, which in turn drive reactions in the body. Particularly, this has a lot to do with neurotransmitters in our brain, which control neuropsychiatric concerns, and with the metabolism of sex hormones.
If the COMT gene has problems, it could lead to neuropsychiatric problems such as depression, anxiety, bipolar disorder, and possibly autism spectrum disorder.
COMT also helps metabolize pharmaceutical medications, so dysfunctional COMT can lead to problems with medicine dosing and side effects.
Knowing about your COMT can help motivate you to make better choices for your nutritional health — especially cofactors for enzymes — and for your mental health, too.
MTHFR Gene
The methylenetetrahydrofolate reductase gene, or the slightly smaller mouthful, MTHFR, relates to several conditions, including cardiovascular risks like blood clots and stroke.
This gene is responsible for a complicated process involving folate and resulting in the accumulation of homocysteine, a critically important metabolite.
With MTHFR problems, there can be a temptation to rush right in and start supplementing with vitamins. Don’t do this. Instead, talk with a genetic counselor and your doctor.
Conclusion
Genetic testing is extremely individualized and requires interpretation by a genetic counselor. And more important than the markers themselves are what you do with the information.
In most cases, the recommendations will be pretty much the same as usual: mind your sleep, exercise, nutrition, and stress elimination. Doing this negates the need for most genetic testing in the first place.
However, if you do find something amiss in your genetics, consult with your doctor before you start taking this supplement or that supplement. The complexity of genetics necessitates the advice of a knowledgeable, experienced medical professional to effectively address even seemingly clear results.
Dr. David Rosenberg
Dr. Rosenberg is a board-certified Family Physician who obtained a BS in Chemistry at Georgia's Mercer University in 1983 and a medical degree from the University of Miami in 1988. He completed his residency in Family Medicine at The Washington Hospital in Washington, Pennsylvania, in 1991 and then practiced Emergency Medicine at Palm Beach Gardens Medical Center for two years. In 1993 he started private practice in Jupiter.
Dr. Rosenberg has been married to his wife Mary for 38 years and they have three grown children together. Some of his interests include being a huge baseball fan, sailing, snow skiing, self-development, and learning to play piano.