23andMe and the FDA: Did the government overreach?

23andMe is a personal genomics and biotechnology company which for $99 conducts a comprehensive analysis of your DNA.  In recent days, the Food and Drug Administration (FDA) instructed 23andMe to halt sales of its main product.  The FDA’s problem with 23andMe does not seem to be the accuracy of their testing methods.

The FDA’s concern is apparently that the company has not met all of the complex regulatory requirements demanded by the type of entity the FDA considers them to be.

In his Slate article, Gary Marchant argues that the FDA’s burdensome regulations essentially make it impossible for companies to provide affordable personalized genetic testing:

The problem is that (the FDA’s) regulatory approval pathways generally require clinical testing that takes several years to complete and costs millions of dollars. 23andMe or any other entrant into this field would have to pursue such approval for each test it offers — and 23andMe offers tests for more than 250 diseases and conditions. Moreover, because of rapid advances in the field of genetics, any such test would likely be outdated, replaced by a more precise and advanced test, before the clinical testing and regulatory approval could be completed for the initial test. In other words, the PMA regulatory pathway is infeasible and impracticable for these types of tests, and the FDA’s insistence on such a step is a death sentence for direct-to-consumer genetic testing.

Beyond debating the technical legalities of the FDA’s action, it is worth considering whether what it did will result in more overall harm or good.  Let’s first consider the benefits of direct-to-consumer genetic testing.  The first is privacy.  As Marchant writes, “To many people, their genetic information is very private, and they prefer to get the results privately at home rather than through their physician, who will likely put the information in the patient’s medical record.”

A second benefit is the low price of 23andMe’s product.  To quote Marchant again, “It is much cheaper to get tested through 23andMe, which is currently offering its entire battery of genetic tests for only $99. It would cost many hundreds if not thousands of dollars to get the same tests through one’s physician, and health insurance does not cover the cost of most genetic tests presently.”

What are the concerns held by the FDA and other critics of direct-to-consumer genetic testing?  One worry is that people might undergo unnecessary tests and procedures based on the information 23andMe provides.  For example, critics worry that a woman who is found to have a false-positive BRCA mutation might have a prophylactic mastectomy inappropriately.  This seems to me to be an impractical concern.  It is difficult imagine a surgeon operating in such a situation without first verifying the genetic testing through another lab and extensively discussing the benefits and risks of such an approach with the patient.

Another concern about direct-to-consumer genetic testing is the psychological impact that the information can have.  How might a person react if he or she finds they have an increased risk of developing Alzheimer’s disease, something which they are powerless to prevent?

When I received my 23andMe results, it was apparent that the company takes this issue seriously.  The results for my risk of developing Parkinson’s disease and Alzheimer’s were locked.  I was required to read through a long explanation of the meaning and  implications of the test results before I could access them.  It turns out, however, that people seem to be less psychologically devastated by adverse genetic test results than many of the experts anticipated.  For instance, a study published in the New England Journal of Medicine found that “in sample of subjects who completed follow-up after undergoing consumer genomewide testing, such testing did not result in any measurable short-term changes in psychological health, diet or exercise behavior, or use of screening tests.”

After considering the benefits and risks of direct-to-consumer genetic tests such as 23andMe, it seems that they likely result in more good than harm.  I reckon our federal government’s resources would be better spent taking on public health risks much greater than those posed by 23andMe.

James Marroquin is an internal medicine physician who blogs at his self-titled site, James Marroquin.

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  • Sara Stein MD

    I totally agree James. I don’t think the FDA action is about patients running for prophylactic mastectomies based on partial BrCa results from a saliva test, as they claim. (What surgeon would operate based on an unconfirmed spit test?). The 23andme results contain multiple genes related to drug metabolism including statins, If you knew you were at high risk for developing serious side effects (myopathy) from statins you would not fill the prescription. I’m guessing Pharma is behind this.

    • jimmyquin

      Thanks, Sara

    • GT

      Always follow the money. If someone is lobbying to have the government deny the public the right to know what’s in their own DNA, you can bet that that “someone” is protecting their bottom line.

      “When buying and selling are controlled by the legislature, the first thing to be bought and sold are the legislators.” It’s crony capitalism all the way down.

  • Star Cunningham

    I was trying to comment on this on LinkedIn through the iPad app and failed. In any case…

    This is something that I am following closely as my company is also forward looking to DNA and genome science in the delivery of personalized medicine.

    The FDA is right to be concerned about ‘the product’ defined as the lab delivering the results, how do I know the results that I receive are accurate and are mine. etc. I would think that the FDA already has guidelines in place for this since OTC DNA/Paternity testing is common and I don’t see rising claims of people with tons of inaccurate OTC paternity test results (which could get messy – FAST!).

    However, I read somewhere that the majority of individuals seeking out testing are highly educated, Caucasian, males. Therefore, the claim that these individuals will run off willy-nilly and have additional tests performed, abruptly stop taking meds and elect to have radical surgeries is fear mongering and unfounded.

    The FDA will have to step up quickly and state their intention. It cannot be driven by big Pharma and lobbyist. The internet aware socially connected consumer of health care will not be sitting passively while anyone, FDA included, tells them they cannot have access to their data.

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