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Why Should You Consider Genetic Testing?

Written By: Ralph Waldo, M.D.

Since the completion of The Human Genome Project in April 2003, people have been hearing more about genes that cause disease. People have likely heard about genetic tests that tell them about their ancestry or even about traits they may express. and 23andMe are a few tests available on the market that people may have done or heard about. Physicians have been using genetic tests to help determine what drugs may work best for an individual, determine risks and even help support various functions in the body.

It is an exciting time and a time that offers great promise for the advancement of medicine and new ways to target and approach diseases. However, many of the people using these tests have not had proper training, simply read the report and make suggestions based on limited results, missing a bigger picture. Unfortunately, good intentions can have negative consequences. For example, the MTHFR has become a hot topic (gene) as it relates to risks for numerous diseases. It has been linked to cardiovascular disease, diabetes, stroke, dementia, miscarriages, depression to name a few. People may have heard of Deplin, which is often given to patients who present with depression and may have an MTHFR on a common drug metabolism genetic test. This test is frequently administered by physicians. It is more personalized and is a step forward. Unfortunately, treating one gene may also have negative consequences for patients. It may be the right intervention, but a bigger picture needs to be accounted for prior to treating just one genetic variant.

Deplin is a nutritional supplement currently available by prescription that is the active form of folate and it will bypass the MTHFR, allowing folate to directly enter cells and be utilized. It can influence a bigger process known as methylation. However, this influences numerous systems in the body and influences the expression of other genes. Clients that see physicians using genetics to support treatment and health should inquire about the amount of training the practitioner has completed. There are physicians that have knowledge regarding genetics, completed CMEs (Continuing Medical Education) and even gone to courses or completed certification courses. These certifications often take several months to complete and they cover the big picture.

So, what can go wrong when a person treats just an MTHFR variant? Quite a bit, actually.

“Metabolism” is a series of chemical reactions in the body. The metabolism “engine” has many moving parts at any given time, and there may be multiple genetic variants within this engine. If only one variant is addressed, in this case the MTHFR, other areas in the engine may suffer.

Let’s use one of the detox pathways as an example. Let’s say the patient has a known MTHFR variant, but hasn’t had full genetic testing to know that they also have a variant in the detoxification pathway. The patient is given l-methylfolate (or Deplin). This improves the efficiency of Phase I detoxification in which substances (medications, nutrients, and environmental toxins) are broken down into fuel to be used and by-products to be eliminated from the body. The next step is Phase II detoxification which pumps the by-products (the engine’s exhaust) from the body…but because this patient didn’t know they had a genetic variant in the Phase II pathway the toxins start building up because the body can’t get rid of the extra toxins being produced from the engine running faster. In a car engine, a blocked exhaust pipe causes the engine to sputter and die. In you and me, it can lead to many adverse health issues.

Another possibility is that people get high glutamate levels as a result. Elevated glutamate may cause anxiety or even damage nerves. Additionally, the transsulfuration pathway may be exposed, generating toxins, ammonia and peroxynitrite, a very dangerous free radical. Free radicals damage cells, tissues, proteins and even our DNA! This also results in inflammation. If both occur in an individual, the elevated glutamate will support the peroxynitrite and create a potentially dangerous situation. Free radicals and elevated glutamate are implicated in numerous neurodegenerative diseases. Finally, the Methylation Cycle may be adversely affected and impact other enzymes and alter gene expression. Again, there is a bigger picture and people using these tests need to understand the bigger picture.

A properly trained health care provider will look at the big picture. In the case of the MTHFR, they will look at the Methylation Cycle genes and genes involved in areas of risk along with labs. They know how to address areas of concern and set up a plan that allows risks to be addressed at the proper time and in a proper order to avoid any adverse reactions when the MTHFR is treated. Used appropriately, genes can tell us about risk and steps we can take to better our health. They can tell us about diet, our ability to detoxify, immunity and inflammation along with how we process and deal with free radicals. Genetics can also tell you about what supplements you should take and what you should avoid. I strongly believe anyone seeing a functional medicine practitioner should be very careful about what supplements they are taking and the treatments they pursue.

People also need to be careful about what is the latest and greatest supplement. Herbs may cause histamine and sulfur issues in those with genetic variants in those pathways. The wrong vitamins can be dangerous and even antioxidants can may be harmful. For example, Vitamin C can elevate oxalates in some people. This can lead to kidney stones in people genetically predisposed or individuals that have candidiasis. NAD+ treatment at the wrong dose can deplete methyl groups and impact chemical reactions and gene expression. Ozone therapy can upregulate super antioxidant enzymes, but knowing if there is a risk or way to make it very effective and keep the enzymes balanced is now possible. Being able to see risks for a damaging reaction in people receiving glutathione is invaluable. Letting a person know they do not clear pesticides and herbicides is critical in an industrialized world that has drastically changed in the last 5 decades.

In conclusion, personalized medicine is getting to the point at which it can be very precise and customized. Genetics are a powerful, exciting tool and if used correctly, can be a guide that has benefits and minimizes risk. Genetics can streamline treatment, allow a physician to see what are major issues and address them in a well-planned out order. However, when genetic testing or even supplements are used incorrectly, they can be very risky, misleading and ineffective. There are genetic institutes putting together all the genes that are statistically significant in people with chronic infections, such as Lyme’s Disease. This will help these patients finally succeed in clearing their infection. They are putting the big picture together and have many experts making contributions. The future is bright, but be people need to be careful and they should ask their provider how much training they have done in the area.

Dr. Spahr and I are undergoing a training and certification course in genetics. This course requires attending a four-day conference along with 6-12 months of course work. We also participate in educational case studies twice a month along with other practitioners who are either in the process of certification or have already completed the course. The knowledge we gain through these experiences allow us to better understand the complex processes of the human body and therefore develop truly individualized treatment plans for our patients.

Ralph Waldo, M.D.

Advanced Integrative Physicians

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