I have some experience with the MTHFR gene, first as a genetic counselor who worked in the prenatal field from 2005-2011, and now as a genetic counselor focused in the direct-to-consumer test market. 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 many naturopaths and nutritionists are making about MTHFR and recommendations on methylfolate supplementation do not appear to be based in accepted scientific fact but on the anecdotal evidence of a few influential naturopaths who have built businesses around nutrigenomics and/or the MTHFR gene. The medical genetics community such as the American College of Medical Genetics and the National Society of Genetic Counselors feels the research is not there to support the claims being made by nutrigenomics business owners, so 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.
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 variants are not always directly linked with homocysteine levels, 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 the public 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. At this point I have not been convinced we are "there" yet, but I know that as we learn more and more results of research become available, we sometimes must change our stance on what we hold as truth in the medical and genetics communities. We also must be careful not to over-emphasize any one gene to exclusion of others, especially when there are approximately 20,000 genes and countless environmental factors to consider when considering the way the human body functions.
If you have questions about a DTC test result or a potential genetic health risk in a family, I would love to work with you individually to help you get the most out of the information available. Most projects end up costing clients in the range of $300-$600 due to the focus and time investment I put into each client's case.
The Watershed DNA approach is to start with a personal and family health history to assess for anything that might warrant further discussion or testing. I also go through any genetic test results that are available and put everything together to create an overall assessment of risk. When possible, I offer recommendations on next-steps, and for clients who haven't yet had any DNA testing, I create a plan that helps them focus testing on their 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.
**Update on July, 7 2017: I've done more reading up on MTHFR research in the past five months since I originally posted this blog post. I still think the same -- but even more strongly -- that MTHFR nutrigenomics claims are not supported by reliable research. I also recently came across this this nice MTHFR summary by 23andMe. It is worth your time to read.**