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The MTHFR come-on.

Years ago, the late syndicated Chicago Sun-Times columnist Sydney Harris had a regular column he called “Things I Learned En Route to Looking up Other Things.” He filled it with bits and bobs of interesting information he’d come across while doing research for his reporting, such as this, from “Don’t get grabbed by the Japanese spider crab:”

the Japanese spider crab is the world’s largest crustacean, measuring up to 26 feet between the tips of its legs, with claws that may be 10 feet apart when in an offensive posture.

Earlier this week, I experienced a similar serendipity, although the subject was not crustaceans. I was researching genetic testing and its misuse in prescribing dietary supplements, a topic I previously addressed in a 2015 post titled “Dubious MTHFR genetic mutation testing,” and will soon write about again. (Stay tuned.) My research led to a particularly interesting article that included some revealing criticisms from experts at the Cleveland Clinic. I don’t know if Mr. Harris’s irony meter ever exploded when he stumbled upon his fortuitous column fodder. Mine did, hence this post.

As I described in my previous post, naturopaths, chiropractors, and “integrative” physicians are urging patients to test for “mutations” in the MTHFR gene via direct-to-consumer genetic testing, the results of which supposedly support the prescription of dietary supplements to ward off the supposedly deleterious effects of these supposed “mutations.”

(Skeptical Raptor also did a post on MTHFR quackery in 2015, which has since been updated.)

In 2016, former naturopathic doctor and occasional SBM blogger Britt Hermes exposed this scam as well, in a post for Forbes. As I did, she featured Ben Lynch, a naturopathic doctor who:

has built an online empire selling genetic analysis and naturalistic treatments for particular genetic variants, which are highly common and have almost no impact on health or disease.

As she explained:

Testing for MTHFR SNPs [single nucleotide polymorphisms], what Lynch is calling “mutations,” is not recommended by any professional medical organization. Some organizations have taken a step further and published statements against ordering tests to identify MTHFR polymorphisms.

She also quoted a genetics expert who found a “significant conflict of interest” in recommending a treatment regimen, such as dietary supplements, that he or she would profit from, a practice the expert called “highly unethical.”

“MTHFR: Hope or Hype?”

This week, I came across yet another publication with an article on dubious MTHFR testing being used to prescribe expensive dietary supplement regimens. A magazine called Genome (“the personalized medicine stories of today and the breakthroughs of tomorrow, so that patients have information they need to get the care they deserve”) published an article last year: “MTHFR: Hope or Hype?” which made many of the same points as Britt’s and my posts:

Ironically, just as the mainstream scientific community has decided that the test for MTHFR variations is not very useful except in rare cases, it has become a popular test for naturopaths, homeopaths, and alternative medicine companies to recommend. Several direct-to-consumer DNA testing labs screen for MTHFR variations. And at least a handful of supplement companies and alternative medicine websites maintain that MTHFR variations could be the key to everything from fatigue to schizophrenia to cancer.

The article showcased the hazards of overselling MTHFR testing and shilling for supplements based on the results with this anecdote:

Last spring, a woman in her early 30s came into the office of Jay Flanagan, a genetic counselor in a reproductive clinic at Sanford Health in Sioux Falls, South Dakota. She was trying to get pregnant, and she brought a bag with all the supplements she was taking in her effort to start a family.

“The first thing I asked her was, ‘Why are you taking $800 worth of supplements every month?'” says Flanagan. “Someone in her family had tested positive for a mutation in a gene called MTHFR. So she had gone to a homeopathic group and asked to get the same test. Her test came back positive, and they told her that she had to take all these supplements in order to reduce her risk of pregnancy loss.

“So then I had to explain that MTHFR helps change folic acid from one form to another form,” says Flanagan. . . “It helps to change one amino acid building block, homocysteine, into another, methionine. The problem isn’t the MTHFR, it’s the amount of homocysteine in your blood.”

Flanagan had the woman stop taking all her supplements so that he could measure the level of homocysteine in her blood. Despite the variation in her MTHFR gene, her homocysteine blood level came back normal.

About this incident, a geneticist and researcher commented:

I believe in the power of genetic testing in the right clinical context . . . but just because you can test for something doesn’t mean you should. Most MTHFR testing is unnecessary.

Who said this? Charis Eng, MD, PhD, the founding director of the Center for Personalized Genetic Healthcare at the Cleveland Clinic, a source I referenced in my MTHFR post as well.

Dr. Eng was not the only Cleveland Clinic expert to weigh in on MTHFR genetic testing.

As the article noted:

Some “functional medicine” specialists . . . contend that if MTHFR variants are associated with many things, there must be some process at work that we don’t yet understand. That’s a position completely at odds with the conclusion of the medical establishment.

Genetic counselors and geneticists say that if there’s no evidence to back these treatments, then they shouldn’t be recommended. “It’s pretty poor science, leading to even worse medicine,” says Eng of the Cleveland Clinic.

The article then relayed this incident:

Amy Shealy, a genetic counselor at the Cleveland Clinic, recently counseled a well-educated middle-age woman. “She was having problems with fatigue,” Shealy says. “She went to a functional medicine clinic, and they recommended doing some blood work including testing for MTHFR.”

The blood results came back with two MTHFR variants, and the functional medicine doctor reportedly told her these were causing her to have depression. Moreover, she reported that when she told the physician she was not depressed, she was told she’d probably been depressed for so long that she didn’t even realize she was depressed, according to Shealy. The functional medicine practitioners said that the woman should take supplements for depression, but she wanted her fatigue treated, not her depression, and became suspicious the more the doctors told her she was depressed. To be clear, the doctors were not selling her the supplements. [Apparently, the latter is not the norm for functional medicine practices, as we shall see.]

“That’s when she came to us,” Shealy says. “When she found out that national medical societies do not recommend MTHFR testing, she was not happy that the previous physician had tested her.”

Say what? Functional medicine clinics testing for MTHFR and advising patients to take supplements based on the results? That’s bad, according to the Cleveland Clinic’s own experts?


Do these Cleveland Clinic experts realize that the mothership of all functional medicine, the Center for Functional Medicine itself, is located at – wait for it – the Cleveland Clinic? But there’s more. Do they realize that the:

Cleveland Clinic’s Center for Functional Medicine offers an easy to use, convenient way to order the supplements you have been prescribed.

As the genetics expert quoted by Britt Hermes says, “highly unethical.”

Apparently, they missed the Cleveland Clinic’s own press release (the original is no longer available but, fortunately, David Gorski preserved this quote in a post):

In its ongoing focus on wellness and disease prevention, the Cleveland Clinic is opening a new Center for Functional Medicine. In doing so, the Clinic is the first academic medical center in the United States to embrace functional medicine, the focus of which is more on identifying underlying causes of illness and less on symptom management.

Or, as Dr. Gorski, said, eschewing press-release hyperbole:

The CCF has embraced the medical pseudoscience that is “functional medicine” and even hired its most famous practitioner, Dr. Mark Hyman. We’ve met Dr. Hyman before many times. For instance, he has argued for turning back the clock and relying on anecdotal medicine instead of scientific medicine and has mangled cancer research and systems biology to justify “functional medicine.” He’s also twisted autism science beyond recognition.

And, of course, there’s Dr. Hyman’s infamous foray into anti-vaccine pseudoscience and his latest effort, questionable claims about an epidemic of “broken brains.”

Functional medicine does love its lab tests, which are “massively misinterpreted and abused,” all in the service of finding that illusive “root cause” of a patient’s problems, and selling a bunch of dietary supplements to boot.

In fact, the Cleveland Clinic named Patrick Hanaway, former chief medical officer of Genova Diagnostics, to run the day-to-day operations of Center for Functional Medicine when it opened. As Dr. Gorski pointed out, Genova Diagnostics is:

a laboratory that offers all sorts of tests of, in my opinion, questionable medical value seemingly custom-made for functional medicine assessments, including a saliva adrenal stress profile [now called the adrenocortex stress profile], comprehensive diagnostic stool analysis, and toxic effects CORE, among others.

And guess what else? Testing for MTHFR polymorphisms, which Genova uses to recommend specific dietary supplements. How convenient for the functional medicine practitioner, what with the dietary supplement recommendations printed right there on the lab report.

But, to be fair, was this MTHFR testing by a functional medicine practitioner described in Genome an aberration? Did he or she stray from the basic principles of functional medicine (such as they are) into the fringes? If functional medicine were a real medical speciality, instead of one fabricated by its proponents, one could, say, find out the answer to this question in the medical literature, or by reviewing the specialty’s practice guidelines, or look into the curriculum of its residency program. Sadly, that’s not possible with functional medicine, which hides its protocols behind a $15,000 paywall. So, we’ll  have to look for clues elsewhere.

According to Jamie Starkey, LAc, the lead acupuncturist at the Cleveland Clinic’s Center for Integrative Medicine, MTHFR testing is part and parcel of integrative medicine. Speaking on acupuncture and other treatments for depression, Starkey says:

Many integrative and functional medicine physicians will look closely to be sure you are not deficient in nutrients such as Vitamin D and also check for chromosomal abnormalities such as MTHFR mutations.

Other functional medicine practitioners are into MTHFR hyperventilation as well. Amy Meyers, MD, a graduate of the Institute for Functional Medicine (IFM), where physicians get “certified” in functional medicine. (The Cleveland Clinic Center for Functional Medicine is a “featured partner” of the IFM and Mark Hyman is a on the IFM’s Board of Directors, where he and Hanaway also teach.) According to Dr. Meyers:

in functional medicine and increasingly in mainstream medicine [nope, at least not in the way she’s implying], a tremendous amount of research has surfaced regarding the MTHFR gene mutation. This mutation, which I see frequently in my functional medicine practice, has been linked to a decreased ability to detoxify, as well as over 60 chronic health conditions including Hashimoto’s and hypothyroidism, blood clots, infertility, cardiovascular disease, Alzheimer’s, depression, birth defects, and certain cancers.

Not to worry, though. She will sell you her Amy Myers, MD-branded supplements to “support MTHFR, adrenal stress, and detoxification efforts.” ($43.97 for 120 tablets.)

Jill Carnahan, MD, who also holds a certification from the Institute for Functional Medicine, agrees that:

this common genetic mutation that can affect everything from depression and anxiety to risk of heart attack or stroke . . .

She, too, recommends a host of dietary supplements and has her own line of “Dr. Jill” brand for sale.

Even the naturopathic guru of MTHFR-testing cum supplement-selling himself, Ben Lynch, is a fan of functional medicine. He lists the Institute for Functional Medicine as a source on his “Find a doctor who understands MTHFR” webpage.

But what about the master, Mark Hyman? What does he think of MTHFR testing? Does he use it in his practice of functional medicine? Yes, he does. In his typical n=1 “proof” of the success of his functional medicine approach, he describes “Joe,” failed, of course, by conventional medicine but saved by Dr. Hyman’s ministrations, including:

We also found he had some genetic imbalances (MTHFR homozygous polymorphism) that increased his need for vitamin B12 and folate (both of which are important in controlling mood and cardiovascular risk).

In his 2010 TEDMED talk, Hyman even references his own MTHFR SNPs as a source of his health problems which, he claims, originally led him to the wonders of functional medicine.

What was that the Cleveland Clinic’s genetics expert said about this sort of thing? Oh yes, “pretty poor science, leading to even worse medicine.”

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  • Jann J. Bellamy is a Florida attorney and lives in Tallahassee. She is one of the founders and Board members of the Society for Science-Based Medicine (SfSBM) dedicated to providing accurate information about CAM and advocating for state and federal laws that incorporate a science-based standard for all health care practitioners. She tracks state and federal bills that would allow pseudoscience in health care for the SfSBM website.  Her posts are archived here.    

Posted by Jann Bellamy

Jann J. Bellamy is a Florida attorney and lives in Tallahassee. She is one of the founders and Board members of the Society for Science-Based Medicine (SfSBM) dedicated to providing accurate information about CAM and advocating for state and federal laws that incorporate a science-based standard for all health care practitioners. She tracks state and federal bills that would allow pseudoscience in health care for the SfSBM website.  Her posts are archived here.