As everyone will have heard the personal-genomics company 23 and Me was told by the FDA to immediately stop selling their product, a direct-to-consumer DNA sequence readout. Reaction to this has been all over the map. I'll pick a couple of the viewpoints to give you the idea.
From one direction, here's Matthew Herper's article, with the excellent title "23 And Stupid". Here's his intro, which makes his case well:
I’d like to be able to start here by railing against our medical system, which prevents patients from getting data about our own bodies because of a paternalistic idea that people can’t look at blood test results, no less genetic information, without a doctor being involved or the government approving the exact language of the test. I’d like to be able to argue that the Food and Drug Administration is wantonly standing in the way of entrepreneurism and innovation by cracking down on 23andMe, a company that is just trying to give patients the ability to know about their own DNA, to understand their own health risks, and to participate in science.
I wish that was the story I’m about to write, but it’s not, and it all really comes down to one fact in the FDA’s brutally scathing warning letter to 23andMe, the Google-backed personal genetics startup. It’s this quote from the letter by Ileana Elder, in the agency’s diagnostics division: “ FDA has not received any communication from 23andMe since May.”
So we can call that one the practical view: "It doesn't matter what you think about 23 and Me's product, and it doesn't matter what you think about the FDA. They're supposed to be working with the FDA, they knew it, but they haven't done squat about it, so what did you expect the agency to do, anyway?". From that, let's go to the idealistic view, from economist Alex Tabarrok at Marginal Revolution, who writes just the sort of article that Herper deliberately passes up the chance to:
Let me be clear, I am not offended by all regulation of genetic tests. Indeed, genetic tests are already regulated. To be precise, the labs that perform genetic tests are regulated by the Clinical Laboratory Improvement Amendments (CLIA) as overseen by the CMS (here is an excellent primer). The CLIA requires all labs, including the labs used by 23andMe, to be inspected for quality control, record keeping and the qualifications of their personnel. The goal is to ensure that the tests are accurate, reliable, timely, confidential and not risky to patients. I am not offended when the goal of regulation is to help consumers buy the product that they have contracted to buy.
What the FDA wants to do is categorically different. The FDA wants to regulate genetic tests as a high-risk medical device that cannot be sold until and unless the FDA permits it be sold.
Moreover, the FDA wants to judge not the analytic validity of the tests, whether the tests accurately read the genetic code as the firms promise (already regulated under the CLIA) but the clinical validity, whether particular identified alleles are causal for conditions or disease. The latter requirement is the death-knell for the products because of the expense and time it takes to prove specific genes are causal for diseases. Moreover, it means that firms like 23andMe will not be able to tell consumers about their own DNA but instead will only be allowed to offer a peek at the sections of code that the FDA has deemed it ok for consumers to see.
The thing is, I can see merits in both these views. And you know, they're not mutually exclusive, either, not as much as it looks like at first glance. I don't even think that the FDA itself thinks that they're so mutually exclusive, if you read their letter (emphasis added):
The Office of In Vitro Diagnostics and Radiological Health (OIR) has a long history of working with companies to help them come into compliance with the FD&C Act. Since July of 2009, we have been diligently working to help you comply with regulatory requirements regarding safety and effectiveness and obtain marketing authorization for your PGS device. FDA has spent significant time evaluating the intended uses of the PGS to determine whether certain uses might be appropriately classified into class II, thus requiring only 510(k) clearance or de novo classification and not PMA approval, and we have proposed modifications to the device’s labeling that could mitigate risks and render certain intended uses appropriate for de novo classification. Further, we provided ample detailed feedback to 23andMe regarding the types of data it needs to submit for the intended uses of the PGS. As part of our interactions with you, including more than 14 face-to-face and teleconference meetings, hundreds of email exchanges, and dozens of written communications, we provided you with specific feedback on study protocols and clinical and analytical validation requirements, discussed potential classifications and regulatory pathways (including reasonable submission timelines), provided statistical advice, and discussed potential risk mitigation strategies. As discussed above, FDA is concerned about the public health consequences of inaccurate results from the PGS device; the main purpose of compliance with FDA’s regulatory requirements is to ensure that the tests work.
As much as I might agree with Alex Tabarrok in principle, I think he's missing a key point here. The FDA is not telling everyone that they don't own their own DNA information, and that they can't see it unless the agency lets them. The agency is saying that 23 and Me can certainly make a business out of selling people their own DNA sequence information, but if they do so by explicitly claiming medical benefits or diagnostic uses, then their business will fall under the FDA's jurisdiction. From their letter, it appears that they have been telling the company this over and over for several years now, during which 23 and Me has, apparently, been dragging their feet and trying to have it both ways. As the FDA letter notes:
For example, your company’s website at www.23andme.com/health (most recently viewed on November 6, 2013) markets the PGS for providing “health reports on 254 diseases and conditions,” including categories such as “carrier status,” “health risks,” and “drug response,” and specifically as a “first step in prevention” that enables users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer.
I'll add a bitter, cynical note: if only 23 and Me had been able to come up with some way to market their DNA test as a nutritional supplement, they'd be in the clear. Maybe some sort of sugar pill that you took before you spit in the little sample container? Then they could say "Not intended to treat, cure, or modify any disease" at the bottom of the page, in six-point microtype, and everything would have been fine, as if by magic. No one would have paid any attention to it, of course, because no one ever pays any attention to that language when they go out and buy all kinds of "supplements", and the FDA would have staggered backwards at the sight of Orrin Hatch's law, like Christopher Lee in a Hammer vampire film being hosed down with a face full of holy water.
Well, that might not have worked perfectly, but it would have worked better than what 23 and Me actually tried. They wouldn't have sold nearly as many DNA tests without talking about preventing disease and making medical decisions in their advertising, true, but those are the breaks. I think that if they'd stuck to some neutral language, rather than presenting Immediate Actionable Medical Decisions, they might well have stayed out of trouble.
Update: via Matt Herper's Twitter feed, here's an interesting take on the whole situation. 23 and Me has been hoping to get some real (and really profitable) insights into population genomics by accumulating such a large sample size. Have they? The way they're acting makes one think that nothing good has popped up yet. . .