23andMe Takes First Step Toward FDA Clearance

Today 23andMe announced that we’ve submitted our first round of 510(k) documentation to the U.S. Food and Drug Administration (FDA). The application provides a detailed description of our Personal Genome Service ®, extensive data supporting the performance of our technology, and comprehensive discussions of the science supporting the information we present to customers about their genetics and its impact on health. Not too long ago personal genomics was a new idea. Consumer personal genomics was even more novel — the idea that everyone, not just doctors and researchers or those with special health needs, could know what was in their DNA. What wasn’t new was the desire to improve our knowledge of what all that DNA means and for that knowledge to make a difference in people’s lives. We started 23andMe six years ago with those goals in mind and since then more than 150,000 people have joined us to learn more about what’s in their bodies and to contribute to our innovative research platform. Already our growing research community has made discoveries in many diverse topics, including the photic sneeze reflex, male pattern baldness, and Parkinson’s disease. As with anything new and potentially disruptive, there have also been concerns. The FDA responded to some of these concerns by indicating that direct-to-consumer genetic testing services require regulatory review to remain on the market. We remain strong in our belief that consumers have a fundamental right to their personal genetic data. We believe personal genetic data will power a revolution in healthcare. But we also recognize that appropriate oversight of this industry can be a stepping stone on the path to realizing that revolution. For the last three years we have worked with FDA to apply their regulatory approach to direct-to-consumer genetic testing. It is important to us that a regulatory framework for genetic testing reflect the dynamic nature of genetic science and protect individual access. What we know about the genome changes every day. If we want our genetic information to be current, there needs to be a way for us to update that information quickly. We are confident that our initial application to the FDA is complete and comprehensive. Being the first in the industry to announce we are actively working toward FDA clearance of our direct-to-consumer service demonstrates our commitment to make personal genetics an integral part of routine healthcare without sacrificing people’s right to access information about themselves. Our goal is to remain the world’s trusted source of genetic information — not just for people with a doctor’s order, but for everyone regardless of why or how they choose to learn about their DNA. DNA is fascinating, but it’s even more fascinating when it’s about you.
  • akaroz

    Could you please explain what FDA’s concerns are?

    • Hi akaroz,

      The FDA held an advisory committee meeting in March 2010 and several documents from that meeting summarize the issues surrounding direct-to-consumer genetic testing that they are interested in, including:

      – The risks and benefits of making clinical genetic tests available for direct access by a consumer without the involvement of a clinician.
      – The risks of and possible mitigations for incorrect, miscommunicated, or misunderstood test results for clinical genetic tests that might be beneficial if offered through direct access testing.

      You can read all of the materials presented at that meeting on the FDA website.

  • Jane

    Kudos for taking this step! I know it’s not an inexpensive one, but hopefully it will pay off in the end.

  • Dora Smith

    I lobbied for making 23andMe accountable to the FDA. Under normal circumstances I’d rather have medical consumers do the regulating, but 23andMe takes the cake, and consumers are buying it hook, line and sinker.

    23andMe gives you two to eight genetic markers for very genetically complex conditions. It would be far more valuable to just give you your raw data and let you research any particular health condition you’re interested in. This includes heart disease, strokes, kidney disease, and diabetes, but capping it all is telling people their genetic risk for breast cancer without including most of the BRAC markers. That is in the fine print, fi you read that far, long after you ordered and paid for the test.

    What is more, the ultimate point at 23andMe is not knowledge; it’s sharing very intimate, personal, medical genetic information with complete strangers, who, in their own words on the 23andMe forums, hope to be related to you some time in the future. 23andMe is just completely, absolutely, sleazy.

    • Hi Dora,

      Thank you for your feedback. To clarify:

      – All customers have access to their raw data and can browse and download it to explore as they wish.
      – 23andMe’s health reports are careful to state that results are based on a specific set of genetic markers and that there are many other genetic and non-genetic factors that may contribute to those conditions.
      – All of 23andMe’s health reports are publicly available on our website to preview prior to purchase.
      – Many customers find value in comparing their DNA results with others but it is up to each individual how much or how little he or she is comfortable sharing, including not sharing at all.

      We will consider your feedback as we improve our features over time, both to reflect new scientific knowledge and to improve how we communicate the information.

  • Gisele

    How is the information kept from insurance companies so that they don’t use the DNA results to deny or increase the cost of coverage?

  • Joseph Beglen

    my family has found several mutations, a little late,that could have saved us many medical problems that was unnecessary. This included carrier Alpha-1 ,deep vain thromboses ,Stain problems ,ARMD ,Heart risk , When threat is 1.3 or over this should be of concern.


  • Katie R

    Awesome news! 🙂

    Hopefully everything goes smoothly. Thinking the public is too dumb to be allowed to view their own data compared to researched information is beyond insulting. I’m hopeful 23andme will soon be for sale in all 50 states.

  • Roger

    Dora, I think attitudes like yours are incredibly dangerous to a free society. Please take a deep breath and stop lobbying against 23andme.

    I agree with 23andme. I knew full well what I was getting myself into because I could read and took the time to do it. I suspect that most people signing up for 23andme are literate and intelligent. It costs a good amount of money and provides rather esoteric information.

    As I understand it, 23andme is very careful to only share genetic information about me with the groups of people I choose to have it shared with. There is no bullying or pressure to do so unless, say, you are the sort of person who responds affirmatively to every request made of you in this world.

    In contrast, my wife and I went for genetic counseling when we had our children since we were over 35 and her doctor insisted we do it. We learned absolutely nothing. Our information was kept from us. According to 23andme I am a carrier for cystic fibrosis. This is not something that I would say I know for sure and it doesn’t impact myself or my children directly, but this is something that, if true, I should have been told by the genetic counseling group. Perhaps this is not correct, but we were given no information whatsoever except that we should not expect our children to have genetic abnormalities. All that effort and money and you won’t tell us anything? Moreover, it is entirely unclear to me what was done with my genetic data by the other lovely corporation that my insurance paid for.

    I’d rather go for a company that explains what they do and is open with me than a company that hides my data from me. You can choose not to do it. Simple.

  • Gabi D.

    Thank you Roger for putting it better than I could! I was one of the first to order a test back when they were $400 and the only grievance I’ve ever had with 23andMe is charging me to upgrade my chip when new markers became available. (I still haven’t done it, hoping they’ll reconsider eventually… so I’m using my parents’ data in the meantime for big diseases like Alzheimer’s since they bought kits after the fact.)
    (As for your genetic counseling, from what I understood, counselors rely most heavily on your family tree for predictive data. If you don’t have any relatives that are known carriers or actually have CF, I’m not sure there’s any way they could’ve predicted it. I could be wrong, of course!)

    But, since one of the first things I tell new people is that I want to be a genetic researcher/work in the field somehow, it quickly leads to prattling off all of my inherited traits & disease risks that I wouldn’t have known if it weren’t for this service.
    Keep up the amazing job guys! I’m also interested in Gisele’s concern re:insurance companies, but it’ll probably be a few more years before the details become ironed out.

  • Z Khan

    So, let’s say that 23andMe has around 200,000 users (they reported 180K last time I checked but let’s suppose a major increase to make things more rounded). Well, out of a world population of over 7 Billion, that translates to roughly .0029% !

    Now, it’s obvious that one company can’t genotype the entire world (that would be a foolish endeavor) but I think it is important to genotype more Americans. Even if all of the 200K users were Americans, which I’m sure they’re not, that would translate to .05% of the U.S. population. I think you guys should do some serious outreach .. I mean, lowering the price to a hundred dollars is a start, but it’s important to really get the word out.. I mean, I only found this company because I was already actively looking to get my genotype mapped.

    Also, in order to connect with people who perhaps don’t have the usual educational background and socioeconomic status to utilize a tool like this, it would be helpful to connect with scientific research organizations and charities that could provide funding for some relatively small-scale altruistic scientific contribution via free testing for certain groups of Americans.

    Sort of like the free testing service that was provided to African Americans by 23andMe.. except maybe you could try that with Native American populations on and off of reservations in both America and Canada (especially the First Nations up in the Northwest Territories). I think it is very important to do more research on Native American genetics. Maybe one day 23andMe could also test native Central and South Americans as well.

    Also, randomly testing at least a certain number of people from each state (in proportion to its size and population) could prove useful and enlightening in regards to obtaining information related to American genetics across the continent.

    I’m sure these ideas have already been brought up.. just sort of thinking aloud here and encouraging implementation!

  • Wei Zhou

    It can become a milestone for consumer genomics. It is important that FDA and 23andme find a regulatory solution quickly so that ordinary citizens have access to accurate and relevant genomic information. Genomic technologies are rapidly evolving. Hope that the regulatory solution will encourage the adoption of new technologies.