I Want My — I Want My — I Want My DNA
Today the FDA dropped a big m-fing hammer on 23andme, a service that will allow you some insight into your own genome. They offer, along with the ability to get a raw report about the specific genes they track, some level of analysis of your genome. They can use your data to look for specific known genetic markers of inherited conditions, and giving you advance warning that you may be at elevated risk of certain problems. In addition, by trying to build a large database of genetic data, they are vastly accelerating the degree to which future genetic markers can be understood for analysis.
This, according to the FDA, is data used for diagnostic and prevention purposes, and therefore makes 23andme a “Medical Device”. Suffice to say that medical devices must to be FDA approved, according to the law, and 23andme hasn’t completed all the hoops necessary to allow me to spit in a cup and send it to a lab. So they can’t sell their kits any longer.
This puts some people, like my wife and myself, in a bit of a strange position.
As many of you know, our 4yo son is autistic. We’ve been through quite a bit to potentially understand the causes of his autism. Without getting too deep into the matter (there are many possible causes, each with its own camp of die-hard adherent believers, all of whom hate each other*), one of the avenues we’ve been traveling down is testing for various types of biomedical dysregulation. As a result, we’ve found that he has a genetic mutation common in a lot of autistic individuals related to what is called the “methylation pathway”. This is a biologic process related to brain activity and development, so the fact that it’s short-circuited gives some indication of where things can be helped**.
So my wife and I are taking this as a chance to better understand more about our own genetic profiles, and with the added benefit of determining more clearly where my son’s genetic mutations have come from***. So we both did the “spit in a tube” thing last week, and our samples are happily on their way to 23andme.
Now, I’m smart enough to know that genetics is NOT an exact science. That getting a report that there might be elevated risk for X doesn’t mean I have X****. I’m not going to use the information to make rash decisions about my medical care.
But it’s a start. It’s information that I don’t have today. It’s information that may be of immeasurable benefit to me in the near term and down the road, if it reveals something real. And it’s information that the FDA doesn’t trust me to have.
“Trust” is the term there. The FDA doesn’t trust us mere citizens. It doesn’t believe we’re capable of making decisions that affect our very lives. The 23andme genetic information isn’t perfect, but they believe that if we can’t get perfect information, we’re better off with no information. This information, of course, is getting better. One of the possible advantages of a widening circle of people partaking in 23andme research is that they can improve their ability to analyze a sample, looking for correlations years from now based on the sample I just gave. Part of the reason I wanted to do this was based upon expected future benefit in addition to learning about the aspects of my genetic that already relate to known markers.
So, our saliva is on the way. With the FDA’s recent proclamation, does that mean that 23andme will complete the testing on our samples? Or will the brakes be put on before they’re allowed to run the test? Will this action end up killing the company, so that even if I *do* get my results today there will never be any future research to make the findings more valuable to me?
So thanks a lot, FDA. You’re making me wonder if I’ll ever get the information I absolutely want and paid for. You’re making the future value of that investment lower, by putting into question the future of 23andme and the amount of data they have access to to analyze. And by doing so, you’re probably putting the brakes on the speed at which future genetic breakthroughs will manifest by artificially culling the data set. Nobody will know how many people will die in the future as a result of slower progress in the growing field of genetic research, but they won’t thank you, nor will I, for protecting me from this information today.
* Seriously, it’s infuriating. I’m of the type who will listen to all sides, read the relevant scientific data available to back up a claim, and pick-and-choose which things make sense. Most of these folks, on the other hand, seem to blindly follow the leaders of their specific “sect” of the autism community, actively wall themselves away from any dissent, and believe anyone who isn’t following their specific regimen is obviously not caring about their children.
** And actually, it’s led to some noticeable improvements. I’m one that tries to be a skeptic, and we’ve seen some diet/supplement changes that haven’t seemed to have caused any improvement (such as the GFCF diet), but others have been seen — even by his teachers & therapists who didn’t know we were making a change, to have “turned the light on” so to speak.
*** Duh, it’s me. Anyone can see that he behaviorally takes after me, not his mom.
**** My wife, on the other hand, is going to be difficult. She gets a headache, goes to WebMD, and thinks it’s an aneurysm. I’m not sure giving a hypochondriac access to genetic testing is wise, but she SAYS she can handle it.
(Headline sung to the tune of Dire Straits’ Money for Nothing, of course!)