How the hell should the FDA be trying to help 23andMe?
Did you even read the letter? The FDA is making serious and legitimate claims. Amongst other things, the FDA is claiming that 23andMe has said that they were in the process of completing their validation studies. 23andMe has already submitted their 510(k) (which is the form/clearance required for -any- medical device), but failed to provide the required evidence to back up their claims in their submission.
Note that the FDA is that claiming that 23andMe has not provided sufficient evidence (as in they don't like the study you did) rather the FDA is claiming that 23andMe has not submitted the required evidence at all. As in there should be this big ass binder full of test results comparing 23andMe's test results against the ground truth, but that binder doesn't exist.
This is hardly stifling innovation. 23andMe has had 5 years since they started selling their product to produce an analytical or clinical study proving their product's effectiveness, and they failed to do so, despite clearly knowing that it was required, to the point of claiming that they were in fact working on it.
5 years for a clinical study? That's a laughably short amount of time. You don't just write a test suite and get your answer out. Moreover, this is kind of uncharted territory: If you've got a device that, say, estimates an 'elevated' risk of alzheimer's in 20 year olds, how long of a clinical trial period do you suspect would be reasonable to run the test?
5 years for an analytical/clinical study for a DNA test? Absolutely in the cards. 23andMe isn't discovering new mutations that it then claims are linked to some phenotypical difference. They are going through all the SNPs that have ever been studied by someone else, testing you for it, and then telling you that "You have this SNP which is linked to clopidogrel metabolism" for example.
The study that the FDA would have required from 23andMe is to show that the genetic testing provides the correct results at the bare minimal. They would require 23andMe to quantify their actual error rate of their product in use by customers. Depending on 23andMe's claims in their 510(k) submission regarding their intended uses, then the burden of proof may go higher.
The point is that if 23andMe can't actually prove that this test result predicts elevated risk of Alzheimer's (either by their own study, or through other relevant studies) then they sure as hell shouldn't say that their test predicts Alzheimer's risk.
Case in point, clopidogrel response. The link between CYP2C19 and clopidogrel response is well studied. There are already other tests on the market based on this relationship. Given this, 23andMe would not have to prove by themselves that clopidogrel and CYP2C19 are linked, they would merely have to prove their their CYP2C19 test provided correct results.
Case in point, clopidogrel response. The link between CYP2C19 and clopidogrel response is well studied. There are already other tests on the market based on this relationship. Given this, 23andMe would not have to prove by themselves that clopidogrel and CYP2C19 are linked, they would merely have to prove their their CYP2C19 test provided correct results.
It's not entirely clear to me that this is what the FDA is demanding. Quantifying the lab error rate is easy, and while it's possible that 23andMe is failing to do so, it's almost like not doing that would take effort.
Having worked at a company that went through the FDA process for a genetic test product, where the link between gene in question and phenotype were fairly well characterized, what we want to do for our analytical studies were to basically push the tests out to their failure modes. That meant seeing what happened with common contaminants, what happens with incorrect sample collection technique, what happens with incorrect storage, etc. For our clinical tests, we had to prove not the lab rate, but the actual customer use rate.
For example, 23andme ships you a test package, you sample it yourself, send it back and then they process it. While quantifying that last rate is simple (as you say), it's crucial to understand how well the product will work in practice, with an actual customer on the other end.
For something like 23andme, that would likely mean getting a whole bunch of untrained test subjects, having them preform the sample collection as instructed by the instructions shipped with the sample collector, having them shipped over by standard means to the lab, and then processed. The test subjects would likely then have to have their DNA fully sequenced with some gold standard test, and then the results compared. 23andMe would be given leeway, in the sense that inconclusives don't "really" count as a wrong result.
Since the field is new, it is not clear to me that the FDA has a set standard procedure to determine one thing or another, so it is possible that the FDA is requiring a higher level of review that may or may not be equivalent to what you experienced. It is also possible that 23andMe is being totally negligent.
You are not allowed to just make things up. How do they know there is an elevated risk if they have not studied it? This is pretty basic science. I think you are probably suggesting a hypothesis, as in a bunch of 60 yo patients with Alzheimer's has this genetic marker, you at 20 have this same genetic marker, therefore you may be at elevated risk. That seems like a reasonable hypothesis, but that is all it is until tested. Until then, you don't get to make claims.
Did you even read the letter? The FDA is making serious and legitimate claims. Amongst other things, the FDA is claiming that 23andMe has said that they were in the process of completing their validation studies. 23andMe has already submitted their 510(k) (which is the form/clearance required for -any- medical device), but failed to provide the required evidence to back up their claims in their submission.
Note that the FDA is that claiming that 23andMe has not provided sufficient evidence (as in they don't like the study you did) rather the FDA is claiming that 23andMe has not submitted the required evidence at all. As in there should be this big ass binder full of test results comparing 23andMe's test results against the ground truth, but that binder doesn't exist.
This is hardly stifling innovation. 23andMe has had 5 years since they started selling their product to produce an analytical or clinical study proving their product's effectiveness, and they failed to do so, despite clearly knowing that it was required, to the point of claiming that they were in fact working on it.