There May Be More to the FDA/23andMe Story Than Meets the Eye

12/12/13

Consumers and life science startup companies alike are reacting strongly to the recent decision by the FDA to restrict the genetic testing company, 23andMe, from marketing its genetic testing service. In our day-to-day work, we are frequently approached with a gamut of regulatory questions from both large and small life science companies navigating the intersection of the changing regulatory and technology environments like this. This convergence is the most difficult part of blending creativity with business practicality—the place we like to dive in headfirst.

With the recent increase in remote medical monitoring activities and devices and the increasing importance of emerging genetic information technologies, it is unlikely that this will be the last that we hear of regulation and innovation not being fully aligned. So, naturally, the 23andMe story is very interesting to us.

In a recent letter to the Google-backed startup 23andMe, the FDA expressed concern about the company’s inability to provide adequate scientific evidence that the tests provide accurate genetic results, and that the unsubstantiated genetic information provided by the tests could cause consumers to make unnecessary or potentially dangerous decisions regarding their health. The FDA cited examples of how information from the tests related to breast cancer risk or susceptibility to drug side effects could be used dangerously if not considered with appropriate medical guidance.

Many comments by the public on online social media channels such as Facebook, Twitter, and blogs suggest that the FDA decision to restrict the sales of the genetic test offered through the 23andMe website is an example of government restricting the rights of consumers to access information about their genetic background and to understand their susceptibility or likelihood of developing certain diseases.

While the overwhelming public perception of the FDA decision seems to be supportive of the company and critical of the government regulating agency, some of us are left wondering if there is more to this story. Could it be that FDA is not trying to simply keep information from the public, but rather ensure, as much as possible, that the information we get is reliable – especially when that information could have a dramatic impact on important, potentially life-changing healthcare decisions we make?

23andMe’s genetic testing kit, the Personal Genome Service (PGS), was marketed up until last week with claims that many of the test results offered a “first step in prevention” that enables users to “take steps toward mitigating serious diseases”. By definition, these claims classify the PGS as a medical device under the federal Food, Drug & Cosmetic Act, and as such it is subject to FDA regulation including the requirement for FDA approval or clearance prior to marketing. However, 23andMe has never been granted such approval.

FDA’s main concern around use of the PGS is that consumers will make important and risky health decisions based on the test results. Some have offered that FDA concern is unreasonable, as the agency has not provided one example of an individual having made a harmful decision based on information obtained from 23andMe. The fact is, there is no way to know whether this has or has not happened; but the FDA’s remit is to protect the public health and they believe the risk of an individual making a harmful decision based on test results from the PGS is high enough to warrant enforcement of the regulations.

Communication between FDA and 23andMe can be found on FDA’s website going back to 2010, documenting FDA’s view that the PGS falls within the category of a regulated medical device requiring approval. Their recent Warning Letter cites “more than 14 face-to-face and teleconference meetings, hundreds of email exchanges, and dozens of written communications…providing specific feedback on requirements..and regulatory pathways [for approval/clearance]”. Most of this communication is not available to the public, so it is impossible to know the details of why 23andMe has not been able to secure FDA approval to date. Is the FDA being unreasonable with their requirements? Is 23andMe actually making meaningful efforts to comply? At this point, we simply don’t know. But FDA’s considerable time and resource spent working with 23andMe could be a sign of their desire to not only make personal genetic information available, but also of their commitment to ensuring that such sensitive, valuable information is accurate and reliable before people act on it.

Emily Welsch, consultant, Halloran Consulting Group

Emily Welsch, consultant, Halloran Consulting Group

It’s easy to assume that a large, bureaucratic government agency like FDA is in the business of putting up roadblocks to progress, and that is what they are doing in this instance. FDA’s sole job is to protect the health and safety of the public. Consider, for a moment, that that is precisely what they are trying to do.

[Editor's Note: This piece was co-authored by Emily Welsch of Halloran Consulting Group. Halloran and its consultants haven't done business with 23andMe or its competitors.]

Joanne Gibbons is a senior consultant and Emily Welsch is a consultant at Halloran Consulting Group Follow @

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  • Bill Syrjala

    While your analysis appears reasonable on its face, it leaves out an in-depth knowledge of how 23andMe’s results have been used in the real world.

    Hundreds of patients have already used 23andMe results to cure “incurable” diseases, or at least treat them into remission, working with specialized genetics doctors. In most cases, this was done with specialized supplements, dietary changes, and/or compounded medications at low cost, where the 23andMe data allowed for a high level of fine-tuning of the treatment, in a way that wasn’t possible before 23andMe existed.

    None of these things would have occurred had these patients continued to rely on their primary care physician and/or specialists, most of whom only propose solutions based on drugs or surgery, and who wont go on “fishing expeditions” (i.e. running broad sets of tests) and only run tests when clinically indicated (and rarely will they ever run a test on even one SNP, let alone the dozens that 23andMe does).

    The FDA is a political and lobbyist-influenced organization much more than it is there for consumer protection. Their stated reasons for the shutdown are not only flawed (e.g. no woman is going to have a mastectomy unless she sees a doctor who will run his own test and then agrees to perform the procedure), but they lack any understanding of the real-world cost/benefit/risk analysis that leans very heavily in favor of 23andMe as a huge value-add for so many patients.

    • Guest

      Thank you Bill for commenting on the post and bringing your perspectives. To be clear, we are fascinated with what 23andMe is doing and its great potential. Our interest is around this historic event in the context of how regulatory policy will evolve amid the abundance of innovation in our field. 23andMe is certainly not the only technology that doesn’t fit the current regulatory mold!

    • Joanne Gibbons

      Thank you Bill for commenting on the article and bringing your perspectives. To be clear, we are fascinated with what 23andMe is doing and its great potential. Our interest is around this historic event in the context of how regulatory policy will evolve amid the abundance of innovation in our field. 23andMe is certainly not the only technology that doesn’t fit the current regulatory mold!

  • kenofken

    It’s regulatory overreach, pure and simple. The service is not a “medical device.” It’s a service which any sensible person uses as a preliminary and tentative genomic insight into their potential health risks. We understand that the relationship between risk of disease and a particular gene variation is, in many cases, tentative.

    In any case, nobody could or would make drastic medical decisions without confirmatory testing overseen by doctors and certified medical labs. As long as the company does not misrepresent risks and benefits, and so long as accepted lab procedures are followed, the FDA has no business in this. Holding it to the standard of a new “medical device” will impose hundreds of millions of dollars in studies and will take most of a decade, by which time the testing platforms themselves will be far obsolete. This level of regulation will also push the cost from $99 to probably thousands of dollars.

    As a consumer, I don’t want or need FDA’s “help” in this area. Nor will the recent decision deter me from seeking and obtaining this information. The raw data is still available from 23andme’s testing regime, and there are open-source tools available to let us analyze it for ourselves and generate reports similar to those produced by the company. If that avenue is closed, there will no doubt be many overseas firms eager to take our business.

    • VirtualGathis

      I agree that the FDA is over reaching its mission here. This idea that people need to be protected from themselves and that Big Brother knows best is a flawed concept.
      So long as there is a disclosure statement in plain language that accompanies thier results stating that these are preliminary results and not in depth triple validated results there is no real cause for intervention.
      23and me could probably get the injunction removed if they were to agree to stop adding the claims the FDA is interpreting as medical. If they provided the genetic data in raw form to its clients and allowed them to run it through interpreting services on their own the FDA would lose the grounds it used for the injunction.

      • kenofken

        As I understand it, the company is now doing just what you suggest. They’re doing all the same SNP reads as they were before, and you get all the raw data, but customers who bought their kits after Nov. 22 (the date of the injunction letter) don’t get the written report summarizing the medical results. You get an ancestry report and you can get everything in the form of some data file that can be parsed and analyzed by open source programs like Promethease. I intend to do just that.

    • Joanne Gibbons

      kenofken, thank you for participating in the discussion and we agree with many of the excellent points that you are making. It feels like there could be a middle ground where consumers could still get maximum benefit (at a value) from this technology. Still, we don’t know yet, and may never know, all the details of the interactions between 23andMe and the FDA so it is hard to say who is right or wrong – it is likely that both parties are somewhere in between.

    • kevinc boston

      Kenofken, Your post is spot on. The FDA has no business getting involved here and blocking this test. I am one of the unlucky people that is sick and was just about to order the test before it was blocked.
      Do you know of any over seas labs offering this similar test? I’m desperate now and can’t believe my luck could be this bad. please email me if you do, thanks. kevincboston2013@gmail.com

  • DrFitt

    If public health had primacy in FDA policy decisions,they would ban tobacco products which cause cancer. They would restrict the over-use of antibiotics responsible for antibiotic resistant bacteria. They would restrict the wholesale/retail sale of chemotherapy that causes more morbidity/mortality than good. The impact of some FDA client’s bottom line is where to look for the answer.

    • SoSueMe

      Perfect. You are so right.

  • bachcole

    Yeah, maybe the FDA got it right this time, but they are still a bunch of corrupt, stupid scum-bags.

    • Slammer

      or maybe everything you say is correct AND they are in the wrong once again

      • bachcole

        LOL. I was always afraid that the rest of the federal government was as corrupt and stupid and scummy as the FDA. My fears may be true.

  • Barbara Nelsen

    Thanks Joanne and Emily for this thought provoking article. 23andMe has providing a great service in pushing forward the dialogue on who has access to our own data. But as Bill’s comment below points out, people are using this information to inform medical decisions. And that means there is a real risk when the data is incomplete, inaccurate, or just plain wrong. My 23and Me profile told me that I am an alpha1 antitrypsin heterozygote (true and confirmed in other tests). It also told me I am not lactose intolerant (false). While this is likely not an inaccurate conclusion based on my genome, there is more to our biology system than our current knowledge of the DNA.

    50% accuracy for fun ancestral information. Fine. But for health related decisions? Not good enough. And therein lies the rub.

    • kenofken

      Did 23andme represent these tests as being definitive and diagnostitc? Also, when you say your lactose intolerance results were “wrong”, do you mean that their test was shown to have misread your genetic sequence in that area, or do you feel it was wrong because your gene data simply failed to line up with your symptoms?

      Yes, lactose intolerance correlates with certain gene variations, but not everyone who has the intolerant variation will experience noticeable symptoms and people with variants for normal lactase activity can still get sick from dairy products, sometimes for reasons which have nothing to do with lactase production.

      Tests like these are starting points, not ending points, for medical decisions, and common sense has to enter into it. If one allele test says your ok with lactose and you have a long history of getting sick from milk, are you going to force feed yourself the stuff because the test says you can handle it? Of course not. You go get retested with a more accurate and specific and verified test, and you go from there. If that test shows lactose intolerance genetics, you move on.

      If the original do-it-yourself test was accurate, you now have valuable information that tells you you need to get evaluated for other causes of your digestive troubles which may have more serious implications and different treatments than just avoiding dairy. If we use good sense and logic, more information is always better than less.

    • Heather

      Not sure where you are getting at 50% accuracy. That is very inaccurate. Please don’t make statements that you have no facts to back it up.

  • Casey John Fry

    Their job is to protect the public, but think about all of the drugs that they have approved, that had to be pulled after killing people. Or the drugs they approve that have far more side-effects than benefits.

  • Truth Williams

    Even if this were regulatory overreach, some people at 23andMe need to get axed for his mistake. How do your marketing/regulatory people even leave this kind of exposure and liability on the table? The company tried to hard to get that “preventative medicine” spin. When it comes to products for the layman population and their health, you can’t over-sell (unless it’s a supplement at GNC).

    It’s no secret that package labeling is huge deal. Literally every word related to product claims and any accompanying promotional material needs to be scrutinized. If anything, this probably at least put all these consumer health companies (made up of tech people trying to get into healthcare) on notice to pay attention.

  • JamesAspinwall

    I think they should also ban all weather prediction. It claimed to be 80% sunny instead it was cloudy. 80% is greater than 50% so they were wrong. Right is right, wrong is wrong. FDA, are you listening?

  • dave

    The FDA’s buffoonery on this and many other issues is pushing innovation, manufacturing, and investment in medicine overseas, plain and simple. In Europe (the land of bureaucracy, mind you) stem cell therapies, face transplants, 3D-printed organs, and instant-bone-graft polymers are already available. Not under review, not “pending approval”, not “5-10 years away” … Available. Today. In the united states we can no longer have access to the best treatments. We are not free to choose for ourselves in any way shape or form.