Just what is the MTHFR gene? Allow me to introduce some actual scientific information here. According to Genetics Home Reference, a service of the National Library of Medicine,
the MTHFR gene provides instructions for making an enzyme that plays a role in processing amino acids, the building blocks of proteins. This particular enzyme is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9), a reaction required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Back to pseudoscience. Next comes the scare tactic: telling you how a MTHFR mutation might affect your health: anxiousness, adrenal fatigue, brain fog, cervical dysplasia, increased risk of many cancers (including breast and prostate), low thyroid, leaky gut, high blood pressure, heart attacks, stroke, Alzheimer’s disease, diabetes, and miscarriages.
Well, who wouldn’t want to know if they were at risk for one of these problems, whether the real ones or those fabricated by naturopaths, like adrenal fatigue and leaky gut? What to do? Obviously, a genetic test is in order.
Fortunately for you, the naturopath will guide you through the next step. First, order an on-line genetic test. There’s a bit of a snag here. The FDA, which regulates medical tests, prohibits open access labs from offering health-related information based on your genetic panel without validation of the test used (and companies have gotten in trouble for offering unvalidated tests in the past). Not to worry: there are software programs available online that will turn the raw data into a report explaining your mutations.
At that point, the naturopath stands ready to help you understand your results and figure out what to do about them. Of course, she will have a solution. Naturopaths always do.
For example,”Dr. Doni,” (whom we’ve met before) practices in New York (even though New York doesn’t license naturopaths) and Connecticut. She offers a four-month, $3,000 package. (This also covers other genetic mutations that testing may have discovered.) Based on your “unique genetic health profile” she will ensure you understand your genetic mutations “so you can take control of your own health.”
How? With dietary supplements and other nutrients needed to address your mutations, naturally. Your $3,000 doesn’t cover these but, conveniently, she will sell them to you at a 10% discount. She will also create a “natural remedy plan” to “reduce or eliminate your symptoms.” And, best of all, she can design a long-term preventive help regimen that can help you “avoid serious illness (cancer, Alzheimer’s, heart disease, auto-immune disorders, etc.).” Not only that, you will “lessen the likelihood of needing medications and/or invasive surgical procedures (gall bladder surgery, cataracts, LEEP procedure, etc.) later in life.” And all of this can be done via Skype!
Where is this coming from?
Ben Lynch appears to be the naturopathic guru of MTHFR genetic mutations, or at least has designated himself as such, and he is intent on spreading the word. He seems convinced these mutations are something close to the “one true cause.”
Lynch runs the MTHFR.net website: “Your Expert Resource on MTHFR Mutations.” He believes that:
the MTHFR gene mutation is a highly significant health problem that is completely ignored. Yet, millions are suffering from pulmonary embolisms, addictions, fibromyalgia, miscarriages, schizophrenia, severe depression, cancer and autism to name a few.
All of these, he claims, “may” be linked to a MTHFR gene mutation. He says he is “constantly in research” and has “a solid understanding of MTHFR mutations and expanding that knowledge on a weekly basis.” He is looking forward to improving your life and “perhaps saving the life of a family member with an unknown MTHFR gene mutation.”
For a researcher, his Research page is oddly out of date, having been posted in January, 2012. His statements are conflicting. First, he says that the journal articles he’s listed support his conclusions that MTHFR genetic mutations are to be “dealt with – not dismissed.” Yet he also says he has not fully evaluated the articles.
So, is Lynch really an expert? Should we trust what he is saying? Should we trust a naturopath who cites him as a resource?
Lynch has an undergrad degree in cell and molecular biology from the University of Washington (1997). I suppose that is a good place to start if you want to develop an expertise in genetics, but it won’t make you into an expert. Lynch then graduated from Bastyr with an ND degree. Given that Bastyr’s naturopathic program is steeped in pseudoscience and the rudimentary (and also pseudoscience-filled) clinical training it offers, there is no plausible reason to conclude that an ND degree from Bastyr qualifies anyone to claim expertise in genetics, genetic mutations, genetic testing or treatment of genetically-based disease.
That’s it. Lynch didn’t do any sort of residency, fellowship or any post-undergraduate education or training in genetics (or anything else, as far as I can tell). He is not a member of any reputable organization of genetic experts that I could find. According to my PubMed search, Lynch has never published any genetics research. In fact, I can’t find that he’s published any peer-reviewed research at all.
Instead, his “research” seems to consist of collecting anecdotes from individuals in blog format and posting them online. These posts, which are sometimes identified by name, have all sorts of personal medical information in them, both of the writer and others who could be identified by their connection to the writer. What he is doing with this “research” is unclear, other than it is not being published in a reputable journal. Nor do I find that he is, or has been, involved in research listed on clinicaltrials.gov. There is no reference indicating that any of his research has been approved, or exempted from approval, by an Institutional Review Board, even though it obviously involves human subjects.
What you do see on his website are stories of people who are being horribly exploited by naturopaths and other health care practitioners. They are taking expensive nutritional supplements (some available only from their ND), have gone through other quack testing, like hair analysis and manual muscle testing by chiropractors, and they are on highly restrictive diets, “detox” protocols and other costly treatment regimens.
They express anger at medical doctors who won’t order the (worthless) tests they want. They claim that medical doctors couldn’t really fix the problem and are now being properly treated by a CAM practitioner, usually a naturopath.
An example posted May 6th by Erica:
I am 24 years old and have the homozygous a1298c gene mutation. I have experienced a wide range of health problems through out [sic] my life. After seeing a neurologist for 7 years, I finally sought out a naturopath. I was able to fix the majority of my weird symptoms with a STRICT DIET. I cut out gluten, dairy, corn, soy, nuts, eggs, and yeast for four months. I felt incredible. My naturopath’s theory was that because this mutation leads to detoxing issues, food and chemical sensitivities… that I probably had a ton of digestive damage and really had a bunch of food intolerances that I wasn’t connecting the dots too. I started taking quercetin 3 times a day (it helps heal digestive damage). I also take magnesium and a methylated folate and b12.
One poster got her 23andme results, then apparently (it’s not easy to follow what she is saying) uploaded them to software programs (Prometheus and Genetic Genie) for further interpretation. She is seeking help in interpreting the results on her own.
There were several posts of this nature: people who do their own testing, are concerned when they find a mutation, and don’t know what to do about it, so they are asking others on Lynch’s blog for advice. Or, they ask other bloggers for assistance in finding the “right” doctor.
In addition to Lynch’s “research,” and providing information on getting tested for MTHFR mutations, Lynch helps readers “Find a Doctor,” but to be listed you must have attended or purchased one of Lynch’s courses. Most of the “doctors” are NDs, with a smattering of MDs, DCs, RNs, LAcs, and homeopaths. (It is always interesting to see how many naturopaths are openly diagnosing and treating patients in states where they are not licensed.)
Other dubious resources Lynch provides include:
- Infrared Sauna: best way to eliminate toxins – in the comfort of your own home.
- The Thyroid Summit (“Learn why conventional medicine misses the diagnosis up to 80% of the time”).
- GreenMedInfo, operated by Sayer Ji (“Cabbage Beats Chemo for Cervical Cancer”).
- American BioDental: Affordable and quality biological dentistry to safely remove mercury amalgams and toxic root canals.
- National Vaccine [Mis]Information Center.
- American Association of Naturopathic Physicians.
- American Holistic Medical Association.
- American Academy of Environmental Medicine.
Lynch offered phone consultations at one time, but does not seem to be doing that anymore. In this consult, he advised someone to take 6 different “Seeking Health” products. If you go to the Seeking Health website, guess who appears on the home page? Ben Lynch. You’ll also see more Ben Lynch videos for sale. Lynch is the “Medical Director” of Seeking Health and, as you will find if you go to the public records of Washington State, he has an ownership interest in the company.
Lynch is not currently a practicing naturopath. Rather, he sells his “expertise” to others through online courses and talks. He taught continuing education courses to naturopaths and chiropractors at Bastyr. Unfortunately, this course was also approved as CME for MDs, PAs, ARNPs and RNs licensed in Washington.
He also speaks at conferences, such as the upcoming SHEICon (SHEI stands for “Seeking Health Educational Institute”), which features “Vaccine Presenters” Kelly Brogan, MD, and Sayer Ji, fresh from, as Orac puts it, “the yearly autism quackfest known as Autism One.” “Vaccine Presenter” must be a new euphemism for anti-vaccine crank.
Hmm. Is there connection between anti-vaccinationist “theory” and genetic mutations? Why, yes there is. Turns out it is one of the factors that increases “vaccine risk” according to Barbara Loe Fisher, queen of the anti-vaccination movement.
“Conventional” medical advice
Let’s see what conventional medicine thinks about MTHFR genetic testing. And while Lynch’s naturopathic modus operandi was easy enough to understand, once I get into the real science I must tread carefully and apologize to my colleagues and readers if I go astray here.
First, genetic testing from on-line do-it-yourself companies can be inaccurate. Although the NY Times article linked here was written before the FDA started clamping down on direct-to-consumer genetic testing, the raw data can still be fed into software like Genetic Genie and – voila – your results.
(23andme now advertises its testing as determining your ancestry and helping you get in touch with other members of your family tree. However, in February, the FDA approved its first direct-to-consumer carrier testing from the company.)
According to Genetics Home Reference, at least 40 MTHFR mutations can cause homocystinuria, a disorder that can affect the eyes, joints and other parts of the body. MTHFR genetic mutations have been associated with neural tube defects in babies, but most people with these mutations do not have neural tube defects. They have been studied in connection to stroke, high blood pressure and heart disease, and mental conditions such as bipolar disorder, but the associations are not clear cut.
For a really wonky discussion, try the Online Mendelian Inheritance in Man website. Even if you don’t understand a word of it, you will get a flavor of just how difficult, and nuanced, the matter is. And why those who don’t know what they’re taking about should stay out of the whole business.
As a real geneticist, Charis Eng, MD, PhD, points out, none of this means genetic testing is necessary. For some problems, there are cheaper alternatives that give better information. If high homocysteine levels are suspected, the simple solution is a blood test. If the blood test bears this out, supplementation with vitamins such as B6, B12, and folate or folic acid can be recommended. If the levels are normal, nothing need be done, whether the mutation is present or not.
As for neural tube defects, rather than having an unnecessary test, she advises that pregnant women should take prenatal vitamins that contain higher folate levels (from a drug store, not a naturopath). Until a connection between other disorders and MTHFR mutations are established, most geneticists feel that a test is unnecessary.
One insurer summed up the current evidence nicely:
Genetic testing for inherited thrombophilia or recurrent pregnancy loss to include testing for mutations in the MTHFR gene is considered investigational.
Genetic testing for MTHFR for diagnosis or management of all other indications, including but not limited to, depression, coronary artery disease, cancer, congenital heart defects, Alzheimer’s, dementia, hepatitis, stroke, infertility, Parkinson’s, migraines, peripheral neuropathy, diabetic retinopathy, autism spectrum disorder, nitrous oxide use, schizophrenia and vascular disease is considered investigational.
There are no recommended changes in management that are linked to specific test results. Management changes that might be made include selection of specific medications according to test results, discontinuation of medications, changes in dosing of medications among other ill-defined management changes. However, these management changes are not well-defined and may vary according to the judgment of the treating clinician. Since management changes are ill-defined, it is not possible to determine whether management changes associated with the test lead to improvements in health outcomes. In conclusion, there is insufficient evidence in the published peer reviewed scientific literature regarding the clinical utility and its impacts on health outcomes. Therefore, genetic testing for MTHFR for any indication would be considered investigational.
In coming to this determination, last reviewed in 2014, the company relied on research and recommendations from:
- American College of Medical Genetics and Genomics
- American College of Obstetricians and Gynecologists
- National Institutes of Health
- Society for Maternal – Fetal Medicine
So, let’s compare and contrast. On the one hand, you could take the advice of geneticists with advanced degrees who’ve spent their careers researching genetic mutations and their effects on human health, plus several medical organizations and other reputable research sources. They think testing is unnecessary and offer lower-cost options where there is genuine concern.
On the other hand, you could listen to a naturopath with no particular background in anything, who never published a single article in a reputable journal, who has fashioned himself into a genetics expert, who tells patients to get online testing then sells them dietary supplements to treat their “condition,” who promotes a number of dubious organizations and products, lectures with notorious anti-vaccination cranks, and sells online courses to the public and “professionals” to promote his views, and, in case of the latter, get themselves listed on his website as experts.
(Note: I didn’t realize until I was almost finished writing this post yesterday that Skeptical Raptor had its own post on the subject just last month. You won’t be surprised to learn that Skeptical Raptor and I came to remarkably similar conclusions about Lynch.)