Regulators and insurers have already told us what we need for provide for PGS devices, but most people are not aware of it. What is necessary are at least these two things:
- Analytical Validity
- Clinical Validity
23andMe was dinged for not having either of these two pieces of evidence. Analytical validity evaluates the precision and accuracy of your assay AND your informatics tools. Clinical validity is showing that the marker actually distinguishes, says, BRCA positive patients from negative.
I believe every product on the market should have verified analytical validity that goes BEYOND what CLIA expects. Clinical validity for something like PGS is harder to do. Right now regulators are depending upon evidence drawn from drug development and expecting to see the same kind of thing for PGS devices. But this isn't realistic as PGS offers different kind of, clinically relevant, information. But it's not up to bioinformaticians to decide upon clinical validity either, in fact we need to co-operate with statisticians to propose reasonable studies and level of evidence of these new types of devices - this is starting, but not a big movement.
If you want to know what FDA acceptable evidence is, look at OncotypeDx Breast articles, they have all this levels of evidence the FDA expects, and also check out these PLoS collections: http://currents.plos.org/genomictests/. The scope of these examples still isn't the same as a PGS like what 23andMe offers, but again, this is what the FDA understands.
It'll be interesting to see if 23andMe posts anything in reply to this. From the one side of the story that we do get, it sounds like they haven't exactly done their due-diligence.
well, they may just refer back to all of us ... for what is worth we are part of the community that states that this works, they just use it in the context of marketing and reaching out to a larger public beyond scientists.
It makes you wonder will there (should there) ever be an FDA request to retract a scientific paper?
I don't think the question is whether it works, but whether it's responsible to be giving out all this sensitive genetic data to scientifically-illiterate people without advice from a clinician.
Clinicians and genetic counselors are certainly an important part of the equation, but I'm leery of any regulation that says I can't have access to the information inside of my own cells.
I guess I'm just echoing Emily's response, but I think there's a big difference between researcher-level and direct-to-consumer level confidence. For many things, there are just too many unknowns and consumers are just too prone to misunderstanding the results. One difference to what Emily wrote is that I would want consultation with a geneticist rather than a clinician. The average clinician simply doesn't know enough to provide a patient with insight (that's not a slam against clinicians, it's not in their training).
I would probably say a clinical geneticist. I want them to know their stuff, but I also want them to have the background in dealing with patients and explaining the clinical options that may be associated with any genetic discovery. The same kind of people who you'd speak to if you had a BRCA2 test.
Guess my thoughts are the same then!
It is not up to the government to regulate stupidity. If a consumer can't understand what is the product he is buying, he shouldn't buy it. Let's face it, it's not like we will start seeing mass suicides...
Would you say the same about any medication or medical device? Following this logic you are indeed opting for closing FDA or similar agencies in other countries, but remember this could be last saving grace for many users. Good luck, should you ever need a defibrillator which is unapproved... Imo, governments do not need to regulate stupidity, they need to prevent charlatanry and fraud in the most dire circumstances. The consumer is often the weaker part in the relation to the medical industry, therefore the requirement for evidence in favor of any new medical appliance is totally justified imho.
You should not say what I am opting for (i.e. putting words into my mouth), as I may have a different vision for the role of FDA, which does not include it being closed.
FDA's job is to make sure that medication, medical device or otherwise health related products are correctly described and advertised by their manufacturers. It is their job to make sure the warnings on the label are real, and not downplayed. To sum it up, it is the FDA's job to make sure, that a potential user has all the necessary information he needs to make a call whether he wants this medication or medical device or whatever.
Now where we draw the line on how much information we are giving to users, and how much do we dumb it down so the average citizen understands it, that is also FDA's job. However, I do not believe it is their job to close companies down and restrict access to services, devices or medication. I am not talking about illegal stuff like drugs, illegality of drugs is another department.
It is NOT the FDA's job to enforce smarts and education on people. If someone is about to die in 1 week and wants to take a drug that could kill him today, but might save his life with a probability of p=0.01, than it's his call. Maybe kids will start paying more attention in class if they are convinced they will actually need it later on.
Well from my interpretation of the warning letter, that's exactly what they are requesting.
I am sorry but seemingly you haven't even read the warning letter correctly. It is not about closing down, but all about marketing and advertising in my understanding.
They are asking them to pull the product off the shelf because it's suggested potential by "23andMe" falls under a category that needs pre-approval by the FDA. The FDA should not ban the product, but rather give a valid description of their product that would not require FDA approval.
Giving people "all the necessary information" is useless if it's not in a form they can comprehend, which is where the "enforce smarts on people" part comes in. Getting the marketing guys to work on the sales-pitch and then burying the important caveats in statistics-jargon (yet providing it!) is usually a terrible idea.
The worst part is journalists' take home messages will be something like this:
"The problem? 23andMe's OTC kits may be just as likely to report false positives or false negatives, according to the FDA."
I really don't see anything in the FDA's letter to justify that quote. FDA is saying, I believe correctly, they haven't gotten any evidence to the contrary. I guess you could spin that in this way, but still sounds like FUD to me.
And the article title could go in the books as the definition of FUD:
"FDA: This DNA testing company could kill you"
that title is definitely among lowest form of sensationalism
I appreciate it!
Now that 23andme is back in action anyone who is interested in using their raw data for more information can try out this tool: https://www.xcode.life/product/ftdna-ancestrydna-23andme-raw-data-interpretation-analysis-tools