4 ms·

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

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.

dnautics 13y ago
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.
- icegreentea 13y ago
  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.
  - dnautics 13y ago
    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.

dnautics 13y ago

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.

icegreentea 13y ago
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.
- dnautics 13y ago
  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.