Fooling with FDA

FDA blasts 23andMe

So you remember that old commercial where a margarine company gave Mother Nature a taste of its product and she thought it was butter. The tagline of all the commercials — just before something bad happened — was: “It’s not nice to fool Mother Nature.”

23.FDAYesterday, news reports revealed that the DNA testing company 23andMe got the 21st-century regulatory version of that tagline: it’s not nice to fool with the FDA.

On Friday of last week, the Food and Drug Administration sent what’s called a warning letter to 23andMe, laying out a litany of complaints it had with 23andMe with respect to the health claims made for its DNA test, called the Personal Genome Service, and giving it 15 days to stop marketing the service.1

This test — let’s call it the PGS for short — has long been regarded as an “medical device” by the FDA. That’s a statutorily-defined term meaning “an instrument, apparatus, implement, machine, contrivance, implant, in vitro reagent, or other similar or related article, including any component, part, or accessory, which is-… intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease, in man or other animals.”2

Now let’s stop here for a minute. The Legal Genealogist wants to be crystal clear about this. The FDA doesn’t care a whit about purely genetic genealogy. It’s not interested in the Family Finder test or the YDNA or mtDNA tests offered by Family Tree DNA. It doesn’t care how much Scandinavian ancestry shows up in my test report from AncestryDNA. It doesn’t even care about my genealogy results at 23andMe.

It only cares about genetic tests that provide health data.

The director of the FDA Center for Devices and Radiological Health put it this way more than three years ago:

A genetic test is only subject to FDA oversight if it is a medical device; that is, if it is intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease. … (A) test to determine ancestry is not a device.3

I want to repeat that:

“…(A) test to determine ancestry is not a device.”

So why is the FDA going after 23andMe? Because of statements like this: “Testing with 23andMe can tell you hundreds of things about your health.”4 Or the old headline from its website: “23andMe can help you manage risk and make informed decisions.”5 And like the one illustrating this post that I screen-captured from my own 23andMe results this morning, telling me about “health recommendations” the company had for me.

And because 23andMe is telling folks like me that “if you take a blood thinner called warfarin (Coumadin®) you may require a lower dose.”6

Now understand as well that, as of last year, 23andMe wasn’t fighting the FDA on this issue. In 2012, 23andMe filed for FDA approval of the PGS test. In doing so, CEO and co-founder Anne Wojcicki said: “23andMe is working proactively with the FDA to ensure the industry delivers high quality information that consumers can trust.” And, she said at that time, “FDA clearance is an important step on the path towards getting genetic information integrated with routine medical care.”7

So… what changed? The FDA’s letter to Wojcicki provides a big clue. It noted:

In your letter dated January 9, 2013, you stated that the firm is “completing the additional analytical and clinical validations for the tests that have been submitted” and is “planning extensive labeling studies that will take several months to complete.” Thus, months after you submitted your (applications) and more than 5 years after you began marketing, you still had not completed some of the studies and had not even started other studies necessary to support a marketing submission for the PGS. It is now eleven months later, and you have yet to provide FDA with any new information about these tests. You … did not provide the additional information we requested necessary to complete review …, and FDA has not received any communication from 23andMe since May. Instead, we have become aware that you have initiated new marketing campaigns, including television commercials that, together with an increasing list of indications, show that you plan to expand the PGS’s uses and consumer base without obtaining marketing authorization from FDA.8

Again: “FDA has not received any communication from 23andMe since May.”

So let’s see what we have here. A company that agrees that “FDA clearance is an important step,” that actually files applications for FDA approval, that gets input from FDA as to what FDA wants — and then — at least according to the FDA — turns around and ignores the FDA for six months.

Which kind of explains the piece written yesterday by Matthew Herper of Forbes Magazine, where he noted: “Either 23andMe is deliberately trying to force a battle with the FDA, which I think would potentially win points for the movement the company represents but kill the company itself, or it is simply guilty of the single dumbest regulatory strategy I have seen in 13 years of covering the Food and Drug Administration.”9

23andMe’s response to the FDA letter was, in effect, a mea culpa — an admission that it dropped the ball:

We have received the warning letter from the Food and Drug Administration. We recognize that we have not met the FDA’s expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns.10

So… what does this mean for us, as genealogists, and particularly those of us who — as genealogists — have tested with 23andMe?

First and foremost, it isn’t likely that the FDA is actually going to shut down 23andMe in the next 15 days. The letter appears to have done exactly what I expect the FDA intended it to do: get the attention of the decision-makers at 23andMe. In the usual case, a company that’s cooperating with the FDA is allowed to continue operations and there’s no reason to think that won’t be the case here.

Second, the FDA isn’t going to start regulating purely genetic genealogy: the ancestry side of the 23andMe test results are not at issue in the FDA letter, though the 23andMe business model is such that it isn’t likely it could stay afloat if it had to rely only on its genealogy customers.

Because of the 23andMe business model, however, it’s not a bad idea for its genealogy customers to make sure they have all their data — match lists, raw data and more — just in case 23andMe doesn’t patch things up with the FDA or doesn’t patch them up in time to prevent some service outage. Blogger Roberta Estes of DNAeXplained has some good suggestions on that score.11

But so… what does this mean for us who — as people — have tested with 23andMe and who may be interested in those health results?

On that side, first and foremost, it’s clear that no matter what happens between the FDA and 23andMe, it isn’t going to stop the flood of health-related DNA data or its use by individuals to manage their own health issues.12

What it may do, however, is call attention to the very real potential for a disconnect between specific genetic results and specific health risks. That isn’t just a hypothetical potential. Just yesterday, Lukas Hartmann, a 23andMe user from Germany and co-founder of a German tech company, posted his own experience with being told, based on his 23andMe results, that he had a genetic mutation that usually meant the person would develop an eventually-fatal muscle dystrophy.13

His story had a personal happy ending — he didn’t have the exact mutation that causes that dystrophy but rather two separate mutations on two different genes, and that combination doesn’t cause the dystrophy.

And while he said he was “very much aware of the fact that 23andme doesn’t claim to make any diagnoses,” he posted his account because: “My story serves to illustrate the psychological effects that a health report can nevertheless have, ultimately driving me to spend some nights trying to disprove the report in question.”14

Which underscores the one thing the FDA kept saying in its letter to 23andMe: “serious concerns are raised if test results are not adequately understood by patients or if incorrect test results are reported.”

Where do I come out on this issue? Pretty much where Forbes‘ Matthew Herper does:

We need something like 23andMe to help develop systems for letting people know how to deal with this genetic information, and for creating a world where people can actually start to deal with lots of health data. But outside of a crowd of libertarians and genoscenti, the company does not have the political support it needs for a fight against the FDA. And none of its high-minded ideals release it from the requirement the FDA wants to enforce: that a medical device has to work. I hope 23andMe and FDA can find a way to thread this needle, but this isn’t a promising start.15

I’m sitting here with my popcorn, waiting for the next installment of threading the needle, FDA-style.


SOURCES

  1. FDA, Warning Letters, “23andMe, Inc. 11/22/13,” FDA.gov (http://www.fda.gov : accessed 25 Nov 2013).
  2. 21 U.S.C. §321(h)(2).
  3. Direct-to-Consumer Genetic Testing and the Consequences to the Public,” Congressional Testimony, Jeffrey Shuren, M.D., Director, FDA Center for Devices and Radiological Health, 22 July 2010, FDA.gov (http://www.fda.gov/ : accessed 25 Nov 2013).
  4. ScottH, “Change What You Can, Manage What You Can’t,” 23andMe Blog, posted 19 Aug 2013 (http://blog.23andme.com : accessed 25 Nov 2013).
  5. Screen-capture, 23andMe homepage, 4 Nov 2012; image captured by author.
  6. Key Health Recommendations, JG Russell, 23andMe (https://www.23andme.com/you/features/recommendations/ : accessed 26 Nov 2013).
  7. Press release, “23andMe Takes First Step Toward FDA Clearance,” 23andMe (http://mediacenter.23andme.com/press-releases : accessed 25 Nov 2013).
  8. FDA, Warning Letters, “23andMe, Inc. 11/22/13,” FDA.gov (http://www.fda.gov : accessed 25 Nov 2013).
  9. Matthew Herper, “23andStupid: Is 23andMe Self-Destructing?,” Forbes Magazine online, posted 25 Nov 2013 (http://www.forbes.com/ : accessed 25 Nov 2013).
  10. 23andMe Statement Regarding FDA Warning Letter,” 23andMe Blog, posted 25 Nov 2013 (http://blog.23andme.com : accessed 25 Nov 2013).
  11. Roberta Estes, “Now What? – 23andMe and the FDA,” DNAeXplained, posted 26 Nov 2013 (http://dna-explained.com/ : accessed 26 Nov 2013).
  12. See Razib Khan, “The FDA’s Battle With 23andMe Won’t Mean Anything in the Long Run,” Slate: Future Tense blog, posted 25 Nov 2013 (http://www.slate.com/blogs/future_tense : accessed 25 Nov 2013).
  13. Lukas Hartmann, “My deadly disease was just a bug,” posted 25 Nov 2013 (http://mntmn.com/pages/23andme.html : accessed 25 Nov 2013).
  14. Ibid.
  15. Herper, “23andStupid: Is 23andMe Self-Destructing?,” Forbes Magazine online, posted 25 Nov 2013.
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28 Responses to Fooling with FDA

  1. Ruy Cardoso says:

    It’s nice to see some coherent thoughts on this subject. So many comments on various sites have ranged from the terse (“FDA sux!”) to the illogical (the FDA is not always correct, therefore it is always wrong) to the conspiracy-minded (“They’ll have to pry my DNA from my cold dead hands!”). Now I don’t doubt for a second that the FDA is influenced by outside interests, but that doesn’t imply that this application of the regulatory brakes is a bad thing.

  2. Christine Nordstrom says:

    My opinion doesn’t matter because I have no power, however, a recommendation is not a diagnosis, no matter how strong.
    Health recommendations are made every day through advertising, whether exercise equipment, organic foods, blenders, grills, weathermen announcing bad allergy days and recommending that people stay indoors, and online websites that offer medical advice.
    I don’t see the difference.

    • Judy G. Russell says:

      This is basically a matter of truth in advertising: if you sell me my data, no issue. If you tell me my data means that I have X, you need to be right.

  3. Connie Sundstrom says:

    The very real problem here is that 23andMe’s medical genetic tests have no demonstrated validity. It isn’t simply that the FDA is implementing its oversight on 23andMe, or that 23andMe has not responded in a timely manner to the FDA’s demands, but that 23andMe may be selling snake oil because its clinical tests do not meet accepted medical standards. As the FDA letter says, the “FDA is concerned about the public health consequences of inaccurate results from the PGS device”. Because the FDA “do[es] not have any assurance that the firm has analytically or clinically validated the PGS”, “serious concerns are raised if test results are not adequately understood by patients or if incorrect test results are reported.” Thus, whether the lay public should have access to medical tests without medical provider oversight is only a side issue here. Whether the public should be sold a bill of goods is the real issue.

    • Judy G. Russell says:

      It’s not even a side issue. The FDA won’t stop you from buying a test that gives you your entire genome in terms of raw data. Its oversight is strictly on the interpretation of the data.

      • Connie Sundstrom says:

        Yes, that’s what the FDA is saying – 23andMe’s interpretation of the data does not meet medical standards, thus making marketing and sale of the test harmful to consumers.

        • Judy G. Russell says:

          Just to be precise: the FDA is only saying 23andMe hasn’t shown that it meets standards, not that it actually doesn’t meet standards.

  4. Interesting times….

    Pleas let me recommend to those who haven’t read it the book “The Language of Life: DNA and the Revolution in Personalized Medicine” by Francis S. Collins. he is the director of the National Institute of Health and spent 15 years as director of the National Human Genome Research. The book was published in 2010.

    I guess I shouldn’t be surprised, but I am, at the misinformation being espoused by medical professionals and even genetic counselors using the worst case scenarios and making it sound as if the only people who should have access to medically relevant information are trained professionals. Well the last time I checked your “not so well trained in delivering bad news doctor ” is the one to say sorry you’ve got cancer of the X. And most of the time the diagnosis is correct, but sometimes its wrong. The world is a complex place with lots of scary stuff. But we do not live in the same world as we did 50 years ago. Its no longer Father knows best.

    There’s lots of places where I am not thrilled with 23andme and if it is engaging in false advertising than fine curtail it. But I see the information as provided by 23andme to be interesting, sometimes useful and sometimes potentially life saving. The additional resources they provide are far better and more empowering than that which accompanies most doctor’s diagnoses.

    I actually am more concerned about their downsizing their chip and making it impossible to compare old and new information in a meaningful way. And the fact that I have my family their. So it may be time to take advantage of the FTDNA sale for $49 uploads!

    • apologies for the many typos and spelling errors. Arrrgggh! Fingers ahead if brain with Ipad!

    • Judy G. Russell says:

      I’ve never been a fan of the “only the doctor can tell you X” school. But I’m a BIG fan of the “don’t tell me X if X isn’t true” school. I hope the FDA is focusing only on the latter and not on the former. Time will tell how this plays out.

  5. Retired FDAer says:

    Thank you very much for your clear and rational discussion of this issue. Almost all of the coverage of this story has been FDA-bashing by people who have no clue of how FDA operates and what the legal requirements are. They also have no idea of how seriously FDA takes even the slightest hint of conflict of interest issues or that FDA employees have been fired or jailed for “outside influence” as blithely alleged by Ruy Cardoso.

  6. William Minich says:

    Well, I’m a member of 23andme..

    I never knew I was a carrier of the CF gene Delta F508 before I got my results there.

    You all are right – we must stop people from informing others about genetic predispositions like this!

  7. Pingback: Genealogical Privacy » Fooling with the FDA

  8. Shane says:

    I don’t understand the problem. The FDA and 23andme have been discussing/disputing since at least 2010, and the FDA agent responsible for the letter, Gutierrez, has admitted that the problem isn’t that the tests 23andme offer are wrong. Most involved seem to believe that the tests do what they say, provide analysis on conditions that correlate with certain genetic patterns. The question Gutierrez raises is if 23andme has the right to provide information about those correlations, or at least if it may provide that information without the oversight of a doctor or genetic counselor. Its a matter of a court to decide the 1st amendment issues. But the medical community seems to support 23andme, though (http://slatestarcodex.com/2013/11/26/a-letter-i-will-probably-send-to-the-fda/).

    • Judy G. Russell says:

      That’s one slant on the issue. A breakdown in communications is what seems to be at the heart of things here.

  9. Taurus Londono says:

    What will happen in the near future when there devices like the mini-ION are affordable and easy to obtain; when anyone can sequence their own DNA using something they can plug into their tablet or phone, and then use something like a future version of Promethease to assess their own genetic risk profile?
    If 23andme merely sold the spit kit and provided customers with a link to SNPedia, would their product suddenly not be a medical device?

    Imagine a company that sold a device that you could use at home to obtain biometric data about yourself; data which could then be used to derive a comprehensive profile of your own personal disease risks.

    Doesn’t a scale do that? Is a scale a medical device because you can use it to obtain your body weight, and thus, your BMI (to determine whether or not you are morbidly obese, along with the associated disease risks)?

    Whether you like it or not, knowing the ~3 billion base pairs that comprise your genome will someday be as trivial as known your own body weight; and utilization of the ever-increasing wealth of GWAS data will be as trivial as using a BMI calculator.

    And all the hand-wringing about the regulation of “medical devices” will seem so quaint and naive.

    - Taurus

    • Judy G. Russell says:

      I’m sure the future will be full of all kinds of things we can’t imagine now. But I would hope accurate information is always in the forefront.

  10. Hi Judy,

    Thanks for a clear and informative analysis of the issues between 23andMe and FDA. As a Regulatory Affairs Professional employed by a public company (I am not a Regulator), these issues are of great interest to me.

    I found one small error in your post, however. You wrote that FDA gave 23andMe “15 days to stop marketing the service.” In fact, FDA stated that “23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorization for the device.” Furthermore, FDA asked 23andMe to “notify this office in writing within fifteen (15) working days from the date you receive this letter of the specific actions you have taken to address all issues noted above.”

    Best regards, and many thanks.

    Stephen J. Danko, PhD, RAC

  11. Pingback: Best of the Best ~ Friday, 29 Nov 2013 - The Texas Genealogist

  12. Robert Kirk says:

    Does “stop marketing” mean they can’t take orders or process samples?

    • Judy G. Russell says:

      Exactly what will and won’t be allowed — if there’s any real service interruption at all, now that 23andMe has resumed working with the FDA to answer its questions — remains to be seen. My guess is, if there’s any impact at all, it will be exclusively on providing health info, not on taking orders or processing samples or providing match info on the ancestry side.

  13. Pingback: The FDA Orders 23andMe to Stop Marketing Medical Tests

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