But let’s say we’re talking about a genotype that confers a risk that has not yet happened. When the company sells you your genetic information with genotypes that indicate such risks, is that information “intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease”? Seems to me it probably is – especially if you argue that the information can help you prevent or mitigate the eventual disease. The hardest case might be something like Huntington disease testing, offered by someone and to someone who doesn’t have any hopes for prevention, mitigation, treatment, or cure. Even then, one might consider having, say, 60 CAG repeats in your huntingtin gene having a “condition” one might call pre-Huntington. (The “condition” language is for things that aren’t diseases but have medical implications, like pregnancy.)

So, the FDA has jurisdiction over ‘devices intended to diagnose a disease.’

One could argue that one has to distinguish between “genotype” and “phenotype.”

I think we can agree that a disease is a phenotype.

A person’s phenotype is mostly* determined by the structures and expression levels of his/her mRNAs and their encoded proteins, and the glycosylation of these proteins. Thus, one could argue that the FDA only has jurisdiction over devices that directly diagnose/investigate/probe a person’s mRNAs and proteins.

Maybe I should have become a lawyer.

*In addition to mRNA, other kinds of RNA also play a role: http://en.wikipedia.org/wiki/List_of_RNAs

“intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease, in human or other animals . . . . ”

If the FDA concludes a genetic test is “intended for use in the diagnosis of disease or other conditions,” then I think it has statutory jurisdiction. We don’t get to the question of the constitutionality of providing the information about health implications because it is the test that is disallowed – the proposed speech is irrelevant (except for use as evidence of the uses the test was intended for). That’s why I think that a forensic test, using the CODIS markers, or a genealogical test using mtDNA or Y chromosome STRs is unlikely to be a “device” subject to FDA regulation – they aren’t “intended for use to in the diagnosis of disease or other conditions, or in the cure, mitigation . . . [etc.]” You could sell Laetrile for use as a pigment for paint or as plant food, just if “intended for use in [a health context].”

Assuming there is statutory jurisdiction for the FDA, would it violate the commercial free speech doctrine to restrict a test that produces results that could then be the subjects of speech? That seems to me a stretch – I can’t think of any good parallels, but then, I’m not a First Amendment expert.

Ultimately, it seems to me that you have to fall back on a due process liberty right to control/know about your own body, which has been a winner in some contexts, like reproduction and death, but not in others, like drugs. That seems to me a “non-blushable” argument – one that a lawyer could make with a straight face – but one that would not be likely to win with this or any likely soon to come Supreme Court. But it is always hard to predict things, particularly the future (Niels Bohr) and what do I know – I picked the US to beat Ghana.

Do you have any legal argument to disagree with my analysis?

The FDA / USA government cannot restrict DTC Genetic Testing Companies from

a) analyzing our genome and providing us with our raw data, &

b) providing us with links to published scientific studies, which were often funded by the USA government itself via the NIH (National Institutes of Health), reporting “base … at SNP … is associated with a … higher/lower risk for disease …”.

Both a) and b) only provide factual information, and the FDA / USA government has no right to restrict the free flow of information (freedom of speech, which is protected by the First Amendment to the United States Constitution).

DTC Genetic Testing Companies also have the right to repost these published results in summarizing paragraphs, since access to the literature is controlled by high charges of the publishing houses.

First, Jane Murphy’s question (“Professor Greely, can you clarify your thinking on why I need approval from some third party to look at my own body and my own genes?”) My answer is because we as a society do (and, I believe, should) protect people from certain risks, whether it is by requiring motorcycle helmets, registration of publicly traded securities with the SEC, or FDA approval for drugs. Medical information can be dangerous if misunderstood. I don’t know anything about you, in particular, and it’s certainly possible that you – and all the other commenters in this blog – would not misunderstand the information. But we don’t make regulations to protect the smartest and best educated among us, but the whole population. If there were a good way – logistically, legally, and politically – to exempt the well informed (“masters of the genetic universe”), then I’d have no objection to such exemptions. I like George Church’s requirement that people in the PGP pass his test with a score of 100% correct. (Misha, I assume you passed!) And, lastly, I would note that if I want to “look at my own body” in terms of getting a liver biopsy or a PSA test, I have to go through trained professionals who can minimize the risks, from the procedures but also from misunderstood information.

Second, to Misha. yes, I do think DTC companies are in a lose-lose-lose situation, though I wouldn’t, myself, use the most excellent and colorful words you used. (Well, maybe not.) I should note, though, that I’ve got no complaints (beyond the common false, or, at least, incomplete advertising) about the ancestry services (See Henry T. Greely, Genetic Genealogy: Genetics Meets the Marketplace, in REVISITING RACE IN A GENOMIC AGE 271-299 (eds. Barbara A. Koenig, Sandra Soo-Jin Lee, and Sarah Richardson; Rutgers University Press, 2008). If someone wants to pay for a genetic test for earwax type, fine. I think people should be able to pay for fancy sports cars, $2000 bottles of wine, or tickets to the NBA finals if they want.

But if the companies are using a business model that gives consumers medical information that has a reasonable chance of causing harm through misunderstandings, then they should lose.
This just isn’t a service, in my view, that should be provided DTC. It reminds me of the fad a few years ago for whole body CT scanning, which largely died out after some false advertising suits, negligence actions, and bankruptcies. If you are giving people powerful medical information, it SHOULD come with protections that are outside the normal DTC process, which currently means through clinical geneticists, genetic counselors, or doctors. (I do think, as I said in that Lancet piece, that we’ll need a new model for whole genome sequence information, which will overwhelm our current professional methods of providing good information, but that model needs to be invented.)

Part of what you are saying, Misha, is a complaint against current American medicine, one I agree with strongly. We should have a better medical system. (Frankly, as a very happy member of Kaiser Permanente Northern California, I think I do have a better medical system.) And part of what you say is that you don’t need the same protection as a lot of my relatives (and, I’ll bet, your relatives) do.But between making you either waste time and money on a meaningless professional (or making you find a good professional), on the one hand, and putting anybody who wanders into a Walmart (or the 23andMe on-line site) at risk, I’m going to put you through the hassles, every time.

I’m not worried about protecting you (after all, you passed George’s test!); give me a good way, as discussed above, of exempting you, and I’m fine with it. But a regulatory scheme isn’t just about you, or other well-informed people – it’s about over 300 million Americans, fewer than 1:10,000 (at best) of whom have your knowledge.

Finally, Dan, I didn’t say you didn’t believe in any regulation, though I can see how my statement that I disagree with your bottom line because “I believe in some regulation” could be read that way. Make that say “some FDA regulation.” I suspect we both support stronger CLIA regulation, though, unless it was much stronger, it wouldn’t eliminate, for me, the need for FDA regulation.

The rest of your argument, it seems to me, comes down to who has the burden of proof. You want the companies to be able to continue providing DTC results to consumers until the FDA proves it is dangerous. That’s the dietary supplement strategy of (non) regulation. I want the companies to have to prove that it is safe before they do it. That’s the general standard for drugs, biologics, and medical devices, in the US and elsewhere. The companies don the mantle of science, but they want to be treated like they are selling bee pollen or ephedra?

To be a bit more fair, I do think the LDT issue is hard, both for genetic tests and in general. Part of me would like all of them to be proven to be safe and effective (having clinical utility), through rigorous clinical trials, but I don’t think that’s practicable – especially with some of the rare genetic diseases – or politically feasible at all. So, in lieu of regulation that assures us that these tests (genetic and otherwise) really are safe and effective, I’m willing to go with a procedural intermediate – a requirement that someone talk with a trained professional about getting the test and about the test results, in the (sometimes futile) hope that the professional will help the (then consumer, now patient) avoid the more meaningless tests as well as avoid potentially dangerous misunderstandings of the test results.

I am not, in general, a fan of “the precautionary principle” – except for much of health care. If 23andMe wants to be a genetic genealogy company, I’m ok with that. If they want to get involved in health, then they should play by the rules we demand for most (although not all) of the health world.

Given the complexity of these services, as alluded to by Steve, any premarket review will be a lengthy process, removal of the services until completion of review would kill the companies

@Dan – fully agree with your comments on LDTs, there is no logic. If a LDT is delivered through an MD it is deemed safe and uncontroversial – trust me, I’m a doctor??

It may also be the case that certain genetic tests present sufficient risk to purchasers that they should be subject to additional controls, including the types of controls available to the FDA by declaring a test a medical device (e.g., Class II or even Class III designations).

However, I do not believe that the mere fact that a test is provided directly to a consumer is the proper criteria for determining whether a test requires additional regulation. To do so, at least under our current regulatory scheme, where the vast majority of LDTs are not FDA-regulated, implies that these tests are categorically safe when ordered by and delivered to a doctor, and categorically dangerous when there is no physician intermediary. I do not think the evidence at hand supports that distinction.

Instead, I think the appropriate step at this point is to gather much more specific data about the tests on the market, focusing on how such tests are actually used (or not) by both healthcare professionals and individuals to make medical decisions. If the FDA is concerned that “consumers may make medical decisions in reliance on” the information contained in these tests, shouldn’t we take steps to determine if this is in fact happening, rather than merely speculate?

I do not believe we have that data yet and, largely for that reason, I think the FDA’s current regulatory proposal may be premature.

@Steve Murphy: If the FDA does manage to regulate these tests, I agree that the most likely designation for many current tests will be Class II. However, I disagree that the FDA “likely will put these tests off the market for a year or so.” In its second attempt at IVDMIA regulatory guidance (see here) the FDA offered a 12 month grace period for all “currently marketed laboratory-developed IVDMIAs,” with an additional 6 month grace period for manufacturers submitting a 510(k) or PMA within the initial 12 months. I would expect to see something similar should the FDA proceed with broad-based regulation of DTC genetic tests.

@Gavin Williams: This latest development does not necessarily mean that the FDA is moving to revive prior regulatory efforts aimed at LDTs (particularly IVDMIAs), but I agree that the focus on clinical validity may make it somewhat more difficult to support direct regulation of DTC genetic tests alongside the continued exercise of enforcement discretion with respect to LDTs that are clearly designed for clinical use. I will go into the IVDMIA / DTC issue in much more detail in a post tomorrow morning, so please keep an eye out for that.

Thanks all.

- Dan

Oh, I get it, break a few eggs to make an omelette…..

But that is not how the FDA rolls……

Maybe 2 years for premarket, but that will be a def. especially if they won’t involve doctors.

A pregnancy test is not a complicated multifactorial algorithm to determine risk either. So stop with the pregnancy test and glucometer arguments, please. It is either ignorant or disingenuous.

-Steve