The FDA has two big problems with 23andMe.
For one, 23andMe is selling a medical device that is intended to diagnose diseases or other conditions without approval from the FDA. 23andMe has also failed to prove to the FDA that is has analytically or clinically validated its personal genome service.
The fear seems to be that 23andMe customers could make serious medical decisions based on results that the FDA hasn't vetted the accuracy of. In fact, it seems that some 23andMe customers do end up acting on that data and even share it with their physicians.
Here's a summary of what could happen when you share your 23andMe health data with a doctor, courtesy of Quora.
Doctors are sometimes very confused.
"I have tried to [do] this several times and got the following reactions
- Completely blank stare as if i suddenly started speaking to them in Arabic
- Disapproving head shake as if i was crazy to have even taken such a test.
- Denial that the test holds any value whatsoever.
On the occasions that I tried to share with the physicians, I tried to show them the most clinically useful information which is pharmacogenomics data. None of them even knew that there was a test that could help predict Warfarin (Coumadin) dosing...
Lack of physician education on genomics will hold us back significantly from utilizing the genomic information with clinical utility as standard of care." - Ruby Gadelrab, a biotech marketing professional.
"Would rather be sorry than safe."
Last year I was being tested for autoimmune (AI) issues and I remembered that I'd had a 23andMe analysis completed several months prior. I looked through the results and found a few things that I thought my doc might be interested in (what do I know?), so I brought my iPad to my next appointment.
He was fantastic (cripes, I've got such a great doc); when I asked if he was familiar with the site, he was terribly interested and stated that he'd actually returned from a week-long conference just a few days prior that was about such things. (Specifically, the Internets and patients being able to interact more with their care and how patients come into the office with more information or something - I forget the exact theme of the conference, but he stated that those topics were discussed.)
I believe he said at the conference they'd briefly looked at sample 23andMe data, but he'd never looked through anyone's profile. He was clearly stoked when I pulled out my iPad, and he asked - like a kid in a candy store - if I minded signing on to the site. We went through my profile, and I quickly walked him through the information provided by the site. (It felt strange to be educating my doctor about anything, really.) I then pointed out the items that stuck out to me regarding the AI issues, and we began to discuss what they could be, next steps, etc. It didn't appear to me that the 23andMe information altered his thinking or his recommended course of action or anything. I actually asked about one AI disease I'm indicated as slightly more likely to contract (per the data on the site), and he didn't seem to give it much consideration - he stated that it was an extremely rare condition.
And then off to a specialist I went.
(I didn't share my 23andMe results with my Rheumatologist. I just didn't think of it at the time.)
So regarding the question, "What it useful?" - I think it was very useful for me to have that data during the appointment. I'm not exactly sure how to describe this, but having that prior to and during the appointment helped me think of some questions I otherwise wouldn't have thought of, and helped me to be more engaged (and feel like I had a right to be engaged) than if I didn't have a starting point. Or something. It helped me learn a little bit of the lingo and feel more comfortable in the discussion. I've always felt it's extremely important to self-advocate in medical scenarios, but that's easier said than done. Having the 23andMe experience and information helped me feel more comfortable and grounded during a complex, emotional conversation with my doc. Very worth it, in my opinion." - Kimberly Thrush
23andMe can be a great conversation starter between a patient and doctor.
"I was recently tested for a BRCA2 mutation that runs in my family (2041insA).
Before the appointment I emailed my doctor the BRCA1 and BRCA2 SNPs from the the raw export of my 23andMe data in case there was anything useful included.
During the actual appointment my doctor asked me how I had gotten the extract and if it was something 23andMe actually exported--I had to explain that I had just manually grabbed all the SNPs on those genes and saved them to a file. It turns out she had actually called 23andMe to ask as well. It seemed like my doctor's position on consumer genetic testing was that it should be augmented with additional testing before a diagnosis or interpretation are made. She didn't chastise me or pooh-pooh the service, however, and seemed interested in how it worked.
I was told that I was the only patient that she or the other counselors had encountered who had used the 23andMe service and she was were very curious--she asked if I found it worth it, how much I paid, what results were provided, etc.
In my case it was a great conversation starter but nothing more (though it may be useful in the future depending on what the appointment is for)." - Beau Gunderson