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Joanne Pizzino, MD, MPH

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Joanne Pizzino, MD, MPH, is board-certified in Preventive Medicine, and a diplomate of Integrative Medicine with over 20 years’ experience using Functional Medicine diagnostics and treatment. She provides Functional Medicine consultations in 17 states via telemedicine to allow you to be seen through video conference from the comfort of your home or workplace.

Genetic Testing: Pluses and Pitfalls

By Joanne Pizzino, MD, MPH
Medical Editor of Health&Healing

Dr. Pizzino

My dad had heart disease. What if I end up leaving my family before they are fully launched, as he did?” “I had breast cancer, and now I am worried about my daughter’s risk.” “Could this brain fog be senior moments at age 53? Looking back, this is how it started for my mother before her dementia was diagnosed.”

Do questions about “diseases that run in the family” play in the back of your mind? Would genetic testing put those fears to ease, make you more worried, or spur you to action? With all we have learned in the two decades since the human genome has been sequenced, it is probably more important to answer these questions for yourself than just taking advantage of a Black Friday special to learn about your genes. Let’s try to put some perspective on the pros and cons of doing genetic testing.

Genes or Environment?

It can be tempting to want to absolve ourselves of responsibility for our health by blaming our genes. Yet, the new science of epigenetics (that is—how groups of genes work together) has finally begun to answer the age-old question of whether nature or nurture is more important. As it turns out, nurture—that is, environment—is now known to be responsible for more than two-thirds of modern health concerns, and genes for about a third. What this comes down to is that how you play the cards you were dealt may be most fundamental to winning the health game. So, before you ask for genetic testing, ask yourself if you are willing to make the changes in lifestyle and environment that will turn on helpful genes, and turn off riskier versions.

As most of us know, we inherit two gene copies, one from each parent. But it is rare that one gene alone leads to a specific disease. In fact, individual, single-gene disorders are very rare and, as a whole, they affect only about one percent of the population. More common “inherited” disorders, such as heart disease, diabetes, cancer, Alzheimer’s dementia, osteoporosis, and many other common diseases of aging are actually controlled by groups of genes, some of which activate, and others which de-activate the processes leading to the disease. Even more importantly, even where we know a single gene may confer increased risk, such as the APOE4 gene associated with Alzheimer’s disease, having the gene alone does not mean you will get the disease. The vast majority of epigenetic research in the last 20 years points to lifestyle and environment as the influences that most affect whether you will become a “victim” of your genes.

Reducing Genetic Risk

In the extensive training I have taken to learn more about the clinical usefulness of genetic testing, it turns out to be very rare indeed that just taking a specific supplement, or even doing a specific type of exercise will lead to modifying disease risk. Indeed, it is four factors under your control, working together that become the foundation for treating any genetic disorder. These are Nutrition, Exercise, Sleep, & Stress ManagementNESS for short. Yes, stress actually affects which genes are turned on or off, so learning how to manage your body’s response to stress is an important health tool.

Genetic testing can help us know if we need more of a specific nutrient, such as special types of B vitamins (methylated forms of folate or B12), or extra vitamin D or A. But clinical research often shows that supplementing with large doses of single nutrients does not change risk, and sometimes worsens it. For example, taking vitamin A can actually increase risk of cancer in smokers, and too much folate can increase risk of colon cancer. However, the data do clearly show that eating more naturally-based foods containing certain nutrients can indeed reduce the risk of genetic diseases.

Want to know if genetic testing will tell you which kind of diet or exercise is most likely to yield results for reducing your risk? Gene tests can now help us determine that. And, you still have to be willing to do that exercise several times per week, or eat that way for the rest of your life to get the benefit.

Using Genetic Information

One of the more clinically useful ways to interpret genetic markers is to target specific detoxification therapies. The chemistry of biotransformation and elimination, the technical aspects of what is often called “detoxification” can be influenced by genetic markers and help us be more efficient about this important process.

If you plan to do genetic testing, make sure to do testing that looks at many genes, rather than just one in isolation. And to get the most value, I use computational programs that look for human risk for certain gene combinations, not just animal studies. Epigenetic testing and subsequent treatment decisions based upon this are part of an expert Functional Medicine consultation. Ask your Functional Medicine physician if they will lead to practical applications for managing your health.