Validating pre post test
The problem with the previous question is that it would be next to impossible for someone to actually interpret their genome simply by perusing the scientific literature (and I’m not even going to get started on the fact that much of this literature is behind paywalls). But few people have the technical savvy to be able to analyze their own genome in this way.
So, assuming there is interest, there is a great niche for third parties to step in an provide services to people to help them interpret their own DNA. Again, I don’t see how it is – assuming that these third parties provide accurate information (more on this below).
And, to top it all off, there are very few cases where knowing your risk status or other phenotype points to genotype-specific actions (with the BRCA status referred to in the FDA letter a notable exception). One the one side you have people who argue that the data are so messy, of so little practical value, and so prone to misinterpretation by a population poorly trained in modern genetics that we should not allow the information to be disseminated. But I do think we have to figure out a way for companies that provide this kind of information to be effectively regulated.
These questions and answers (Q&As) provide an overview of the European Medicines Agency’s (EMA) advice on issues that are typically addressed in discussions or meetings with marketing authorisation holders in the application phase.
The FDA wants to classify genetic tests like those offered by 23andme as medical devices, and to apply the appropriately strict criteria used for medical devices to genetic tests.
But the problem with this is that contemporary genetic tests will almost certainly fail to meet these criteria, and I don’t see who benefits from that scenario.
Which leads to: 2) Should a person who has had their genome sequenced be able to access scientific literature relevant to their genome?
Again, putting aside questions about the accuracy or utility of this information, there is a lot of published scientific literature that is potentially relevant to people with a particular genotype (including genome-wide association studies as well as a lot of classical human genetic literature and other functional studies).
Yesterday the US Food and Drug Administration sent a letter to the human genetic testing company 23and Me giving them 15 days to respond to a series of concerns about their products and the way they are marketed or risk regulatory intervention.