by Dr. Noémie Long
Direct to consumer ads are everywhere! You’ll see tests for stool, gut health, vitamin reports, genetic risk, etc. While I’m all in favor of sick people being empowered to get the health information they need (especially if the conventional healthcare model is failing them), what I do not support is patients getting taken advantage of and misled.
Here’s why it’s complicated.
How do DNA mutations work? There are at least 5 kinds: point mutations, nonsense mutations, insertions, deletions, missense, and silent mutations. Which kind do you have? Did it even change the protein you use it to encode? Maybe, maybe not. DNA is your blueprint. You’re born with 2 copies of DNA, one from mom and one from dad. We all have a certain number of mutations due to individual variations. Since we have two copies, if the bad copy is turned off it doesn’t matter much. What if you have two bad copies? The human body is smart. Do you think our species would survive if we were so fragile as to have our entire existence rest on one single gene? No. We have redundancy. Multiples genes code for the same thing. If you look at my personal 23AndME raw data, I have 20 markers alleging that I’m “predisposed to being overweight” and 16 markers alleging that I am “predisposed to being underweight.” So why have I never had weight issues? Because environment rules all. There are redundancies in our genetic code to protect from single gene errors. This makes the value of a single “mutated gene” significantly less valuable than is marketed on TV.
Genes are not all or none. There is a sliding scale of function. Depending on your mutation, that gene may work at 90% capacity, 65% capacity etc. The point is that this gene IS still working. People for whom the function being diminished presents a problem are aware of the mutation within the first few years of life. For example, Cystic Fibrosis is a genetic lung condition usually diagnosed before 8 months of age. The most severe mutations result in an individual not being born (at least 50% of first trimester miscarriages are due to genetic abnormality).
Apart from a very few select mutations, the issue with testing DNA for disease, diet and the like is that these tests are not very reliable. A 2018 research paper published in Genetics in Medicine came to the shocking conclusion that direct-to-consumer genetics tests have a 40% false positive rate. This means results are saying you have a disease—BRCA for breast cancer was the specific example from this research paper—when in fact you do not.
Direct to Consumer labs are intended to do one thing: sell a product. In this case, sell a product to an audience who is probably not going to challenge them. The information you need is not going to be on their websites and often not easily accessible. One thing I can say, if you look at your “at-home microbiome test” and the report says “calculated based off a proprietary formula” … run. That’s a hallmark sign that you’ve been had. If you can’t prove to me HOW you got the answer, then it’s probably not real. With this specific at-home microbiome test, it was ultimately easy for me as a provider to prove that the results were 100% unreliable.
Companies that try to sell meals or supplements or GI protocols “tailored for your DNA” are doing the same thing. They’re looking for all kinds of mutations, most of which are irrelevant, and trying to correlate that with a marketable lifestyle or product. The problem is that science has not proven the majority of these claims to be true. DNA itself can’t tell you that kind of information. Your environment, custom biology, and gut microbiome are what dictate which diet is best for you.
So how do you tell which tests are reliable and which are blowing smoke? The truth is, you can’t. The average person doesn’t possess the knowledge (nor should they be expected to) to understand if the technical jargon is real or not. Your best bet is to ask your provider, especially if they are someone well versed in reading blood work who understands laboratory machine/testing specifics.
Now, what do you do if you KNOW you have a genetic risk? How do you know IF a gene has been turned on? That’s where a skilled provider comes into play. You’ll be pleased to know that Core Therapies has those providers at your disposal!