Broken-in Genes: 23andMe, and Me...and the FDA?

A couple of months ago I wrote a piece for The Magazine entitled “Carry On”, also located on this blog here. In it, I discussed how some of the devastating genetic diseases actually persist because of advantages offered by only carrying the trait for the disease. I discussed, among other diseases, Tay-Sachs Disease, because my father is a carrier–it runs in my family. I ended the piece with this thought:

Without plans to have more children, I’m an evolutionary dead end regarding Tay-Sachs. But the trait? That, I could have. That, I could have passed on. For the sake of my children and my children’s children, I think I’ll go out and get tested.

And so I did. I had long known of a service called 23andMe that will do personal genome profiling for the low price of $99. Shortly after writing the piece above I finally bit the bullet and I went and got a kit—they will actually give them for free to physicians if you ask nicely—and I tested myself. As it turns out, I am positive for one of the Tay-Sachs mutations; I am a carrier. I had a 50% chance of this based not he inheritance pattern from my dad, so this isn’t too surprising, but it feels really nice to know. I found out lots of other things about my genes: my chances for having a “lifestyle” disease like heart disease or diabetes, my percentage of Neanderthal genes, and even who else in their community of tested individuals I’m related to. It’s pretty cool.

And boy did I do this just in the nick of time.

Apparently, 23andMe is now in trouble with the FDA. Their testing kit is not actually approved by the FDA or cleared for direct-to-consumer marketing! Oops. Apparently, this is not the first time they have had issues with the FDA–there were concerns raised earlier int he approval process, 23andMe did not satisfy all of the stringent requirements the FDA sets and yet continued to sell the tests. Why is this an issue? The test isn’t a new medicine–it’s not something that could do harm to me if I use it wrong. Or could it?

The FDA is concerned that customers will use the data gained from their 23andMe test results to make medical decisions or life decisions without the benefit of a physician. This, to be fair, is a very valid concern. Someone who finds out they don’t have any risk or heart disease above the baseline population risk, but then goes out on a McDonald’s bender, is exerting poor judgment and possibly causing themselves harm. Or what about someone who sees they have a 90% chance of having atrial fibrillation, reads about it online and sees that the disease carries a risk of stroke, and decides to commit suicide rather than live with the risk–it hasn’t happened yet, but that doesn’t mean it couldn’t.

And then there are the cynical reasons–the personal genetic testing market is a VERY lucrative one; one that right now, 23andMe is cutting insurers, hospitals, labs, and even doctors out of the financial benefits of by doing an end-run around them right to consumers. For us as consumers, that’s great–the testing is cheap and easy. For the rest of the health-care industry–well, they want a piece of the pie. And apparently, the insurance companies have been lobbying the FDA about 23andMe. So even though the FDA itself doesn’t stand to make money, as we all know, no decision is made in a vacuum. Especially a political or financial vacuum.

So for now, it seems, 23andMe is in fact still available–stock up on kits while you still can, because they probably will go off the market soon enough while 23andMe works to meet the FDA requirements. Or perhaps not–23andMe may try to keep doing it while working to satisfy the FDA. But unlike previous FDA contact, this letter seems quite definitive and even a bit exasperated. If 23andMe doesn’t comply, expect injunctions, legal action, court cases…this could drag on for years.

Well, while I watch all this from the sidelines, I can happily say, at least I got my test!