On November 22, the FDA sent Silicon Valley’s leading personalized genetics company 23andMe a warning letter after six months of radio silence and recent increased efforts in marketing. Excerpts from the chastising letter read: “As part of our interactions with you, including more than 14 face-to-face and teleconference meetings, hundreds of email exchanges, and dozens of written communications, we provided you with specific feedback on study protocols and clinical and analytical validation requirements … It is now eleven months later, and you have yet to provide FDA with any new information about these tests. You have not worked with us toward de novo classification, did not provide the additional information we requested necessary to complete review of your 510(k)s, and FDA has not received any communication from 23andMe since May.”
The FDA called for an immediate end to marketing of personalized genetics kits for health purposes, citing false positives and negatives related to BRCA genes and response to medications. After more than a week of debate and back and forth between the FDA and 23andMe behind closed doors and in the media spotlight, the company chose to freeze sales of its “spit kits” (personalized genetic tests) for health reasons today. Ancestry information and raw genetic data will still be available to consumers, and the company will continue its research efforts using the large pool of genetic data it now has collected.
I personally feel that 23andMe has a great product, but for the average consumer who may not have any background in health, wading through the results can be challenging. In college and medical school I took multiple classes on genetics, and I still don’t know how to interpret the risks for various diseases based solely on genetic codes. Back in the summer of 2010 I took Stanford’s first personalized genomics class (which incidentally I just found a paper in PLOS ONE about) where every student got genotyped through 23andMe, and we played around with the raw genetic data to look for new information not offered by the company (one that sticks out in my mind now is longevity based on your family history and DNA). I’ll never forget how intrigued I was to find that all my genetic information could be mine for just a few simple cheek swabs. To be honest, most of the computational genomics were over my head, but the one thing I took away was that the field of personalized genomics is ever changing, and what may predict risk one day may be found to be something different another day. I know not to rely solely on my 23andMe results to make medical decisions. But are there people out there that do? I think so.
What I think would be helpful is to have more guidance from trained professionals to help people interpret their genetic data. Currently 23andMe teams up with Informed Medical Decisions, Inc. to provide genetic counseling if needed. But they are an additional expense, and people have to go out of their way to seek this service. What if 23andMe could have genetic counselors on hand everyday online, available to chat via the web, on the phone, or in person? Or maybe consider having patients choose whether or not they want to discuss the results with their primary care doctor at their next visit, and sending over the results before the appointment.
From a research standpoint, 23andMe is fantastic and I hope they continue to study their huge samples of genetic code. And eventually I hope that people can have access to spit kits again. They just may need a bit more help to understand what their genetic language truly means.
Joyce, As a pathologist I strongly advocate for clinicians getting us involved in ordering genetic/molecular tests. These tests can not only be expensive but also difficult to interpret or simply of no use in treatment or prognosis. I agree with you that there should be qualified professionals to help people understand the results of such testing.
Chakshu
Husband and I did 23andme last year just before the FDA shut them down and both found it very interesting. Husband was pleased to find out that he is indeed more involved than me with his lactose tolerance and I was pleased to find out that husband is indeed more of a neanderthal than the average man 😀 We thought it was totally worth the money from a “this is so cool” perspective, but probably not that useful yet (I think it might be actually kind of annoying over-educated, hypochondriacal, typical health care provider cum patient of me to bring my test results to my doctor to discuss the risks at this point), but hopefully it will be valuable information someday. I was a little bit paranoid about having this sort of data stored online (and for good reason, look at all those recent iCloud leaks!) so I tried to attach as few PHI identifiers as I could to my results.
By the way, I love your blog! It’s awesome to find a blogger who I have so much in common with, and who writes such high quality content 🙂 Keep the awesome posts coming!
Petiteish, I just woke up from sleep after my night shift and it made my day to see these comments from you! Thank you so much for your kind words of encouragement. As a blogger, sometimes it is difficult to grasp who really is reading my content so it means so much to hear feedback from a reader like you! If you ever want automatic updates you can follow my TeawithMD fb page or there is an email subscription link on the homepage. I try to post as often as possible but it has been very tough with intern year. If you ever have any ideas about topics for the blog I’d love to hear from you! And as I mentioned before, if you ever come to Norcal for interviews I hope we can meet up. Sounds like we have a lot in common!
Also, I feel the same way about 23andMe. I did it for a class where we manipulated the raw genetic data afterwards (that part was beyond me; the genetics PhD students helped me a lot with those assignments!). I also felt that it gave me some information but questionable how useful that was. If anything it was more fun to confirm things that I already knew. As a doctor, we definitely aren’t trained to interpret the data if patients come into our offices with their genetic analysis. I think a whole new profession of genetic counselors will be born, to help docs with this field if personal genomics really blossoms in the next few decades.