MTHFR, and the Watershed DNA Approach to DNA Testing
There is a growing issue of certain practitioners recommending genetic testing for MTHFR so that they can sell you supplements. A 2016 article in Forbes magazine highlighted this issue and the inherent conflict of interest it creates. If someone is trying to sell you supplements and is recommending MTHFR testing beforehand, they have likely received biased and incomplete education on MTHFR and its effects on the body.
I have been familiar with the MTHFR gene for over a dozen years, so this is a topic I am used to discussing. My first work with results of MTHFR testing came as a genetic counselor in the prenatal field from 2005-2011. I'm seeing a resurgence of MTHFR results again, due to the push for testing amongst those recommending and pursuing direct-to-consumer tests.
I find it really difficult to counter so much of the information that is being spread about MTHFR on the Internet because there is so much of it. The naturopath community has taken this gene and run with it -- but the conclusions naturopaths, nutritionists, and even some chiropractors are making about MTHFR and recommendations on methylfolate supplementation are not consistent with what research has shown.
The medical genetics community including the American College of Medical Genetics and the National Society of Genetic Counselors feels the research does not support the claims being made by nutrigenomics entrepreneurs, and there is a divide between the medical genetics and naturopath communities which only seems to be growing wider. Here's another summary by ACMG that lays out the evidence we know about MTHFR and variants found in the gene. An update of research in 2020 still supports a lack of evidence that testing MTHFR helps in medical care.
During the time I was a prenatal counselor, we stopped testing the MTHFR gene because we found that the results were not useful. Variations in MTHFR are so common and are associated with (but not directly linked to) a long list of varied conditions. MTHFR can affect homocysteine levels (but not always), and homocysteine is what we are concerned about when it comes to adverse outcomes in pregnancies and risk for other things like blood clots.
We replaced genetic testing of MTHFR with direct testing of homocysteine levels in the blood, and as far as I am aware, this is still the recommendation in the medical/obstetrical community today.
I'm sharing this information because I feel it is important for my readers to understand the debates going on surrounding nutrigenomics and DNA testing. I continue to educate myself on matters related to MTHFR, new research, and current recommendations and guidelines. I am open to the possibility that there may be something useful that can come from genetic testing for nutrigenomics purposes. However, the more research that comes out, the more convinced I become that the nutrigenomics industry is going in the wrong direction for MTHFR.
It is important not to over-emphasize any one gene to exclusion of others, when there are approximately 20,000 genes and countless environmental factors to consider when considering the way the human body functions. The biological cycle in our cells that controls our metabolism and homocysteine levels involves dozens, if not hundreds, of genes.
If you have questions about a genetic test result or a health issue that seems to be passing through your family, I would love to work with you. My approach is to focus on the concerns at hand for my clients, and to include a review of personal and family health history. Often times, medical history is more important and informative than the results of any genetic test.
If you have results already available, I will go through those with you and put all of the test and history information together to create an overall assessment. I offer recommendations on next-steps tailored to you.
For clients who haven't yet had any DNA testing, we'll create a plan that helps you focus testing on your goals. For some people, investigating ethnicity or genealogical connections using an ancestry test is a natural next-step. For others, a health-focused genetic test might be called for. Each person is unique, which means there is no such thing as a one-size-fits-all approach to genetic testing.
My desire is for all people of the world to find connection and commonality with others and to find meaning and truth in life, whether this ultimately involves a DNA test or not. Navigating all of the information out there is tricky, and I'm happy to use what I know to help those who want to include health, ancestry, and DNA in their personal search.
More resources for you on MTHFR:
MTHFR summary by 23andMe
http://www.genetics.edu.au/health-professionals/mthfr-dna-test
https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
