(A reminder: posts on Genomes Unzipped represent the views of individual authors, not the group as a whole.)
Today’s US Congress Committee on Energy and Commerce hearing into the direct-to-consumer genetic testing industry was a vicious affair. Representatives from testing companies 23andMe, Navigenics and Pathway faced a barrage of questions about the accuracy and utility of their tests, made all the worse by the fact that many of the Committee’s members seemed unable to distinguish between the more responsible companies in the field and the scammers and bottom-feeders. (You can read the written testimony of the speakers here, and Dan Vorhaus has a fantastic summary here.)
And the news for direct-to-consumer companies just keeps getting grimmer: the star attraction of the hearing today was a new report from a sting operation by the US Government Accountability Office (PDF), which details the results of anonymous purchases of kits from four DTC testing companies as well as assessments of marketing from 11 other companies approached by the GAO “both by phone and in person” without purchasing kits. While the companies are listed as anonymous numbers in the report, they were revealed in the hearing as (1) 23andMe, (2) deCODEme, (3) Pathway Genomics and (4) Navigenics (the remaining 11 remain nameless).
The report details a litany of complaints – ranging from the flimsy to the serious – about the marketing, reporting and scientific basis for the companies’ operations. Following hot on the heels of the two-day FDA meeting on lab-developed tests (see summaries from Dan Vorhaus here and here) and the recent warning letters sent to 14 more genetic test providers, this is a stunning blow to the nascent personal genomics industry.
Wait, there’s more
And it gets much, much worse: the report includes covertly taped conversations between GAO employees and several DTC companies, which I’ve embedded below. In this video, the company offering breast cancer advice is apparently Navigenics, and the company enthusiastically promoting non-consensual DNA testing for a customer’s fiance is Pathway Genomics. It seems safe to assume that the remaining companies on the tape aren’t members of the first four (reputable) testing companies, but rather of the still-anonymous 11.
Here’s the tape. Brace yourself:
There’s no denying it: that tape is pure gold for the critics of the DTC testing industry. In the first and third clips, a couple of poorly-trained call centre operators at otherwise reputable companies nonchalantly produce the stake that will now be driven into the heart of the DTC industry, over and over again. The remaining three clips appear to depict scam operations – nothing like the products offered by 23andMe, deCODEme or Navigenics – that will nonetheless be conflated in the public mind with DTC genetic testing. Mission accomplished, GAO.
The report itself includes some nonsensical complaints: for instance, the fact that “one donor who had a pacemaker implanted 13 years ago to treat an irregular heartbeat was told that he was at decreased risk for developing such a condition” (the tests provide a probabilistic risk prediction, not a diagnosis). However, others are more serious. For instance, the differences in the risk predictions offered by different companies to the same individual is a problem that has been raised periodically since the industry’s inception; there’s a clear need for industry-wide standards for marker inclusion and background risk figures.
The report also notes that “customers” pretending to be of non-European ancestry were often not informed in advance that their risk predictions were limited (due to the extremely small number of studies on complex disease risk in non-European samples). It’s not the fault of testing companies that genetic research outside of white US and European populations has moved slowly, but warning non-European customers of the limitations of their results should be standard for testing companies.
But overall, the document is obscenely one-sided. It conflates responsible companies offering scientifically valid products with small-time con artists. It ignores the remarkable effort that has been expended on creating intuitive interfaces that allow consumers to grasp complex risk predictions far more easily than anything you’ve seen in a GP’s practice. It ignores the remarkable technical accuracy of the companies’ products, which measure hundreds of thousands of genetic markers with an accuracy over 99.99%. It ignores the fact that the vast majority of personal genomics customers are satisfied with the experience, to the point that reporters seeking to present negative experiences need to exaggerate to do so.
Nonetheless, I’ve no doubt that the report will hit its mark. By this time tomorrow its central claims will have been echoed verbatim by a thousand credulous news agencies around the world, public confidence in the industry will fall, and the regulators will rejoice.
I only have time for some quick thoughts tonight, so I’m hoping that fellow Unzipper Dan Vorhaus will chime in with his thoughts at Genomics Law Report (update: here they are).
Firstly, there’s no question that the sheer scale and ferocity of this combined inquisition from the FDA and Congress will forever change the face of the personal genomics landscape. Already several previously DTC genomics companies have fled the direct-to-consumer market; Navigenics only offers tests via a “physician or corporate wellness program”, and Pathway dropped its consumer offering at the time of the Walgreen’s incident that sparked this whole mess. It is hard to believe that 23andMe will do the same, although I’ve heard suggestions that the company could drop its disease risk predictions entirely, and instead focus on recruiting participants for its research-based business model via ancestry testing.
Secondly, the momentum seems to be well and truly in favour of the bureaucrats now. The prospect of increased regulation (specifically from the FDA) seemed to be enthusiastically received by the Committee today; there was explicit mention of increased money for the FDA to support such a move. The shape of this regulation is as yet unclear, but I’m now extremely pessimistic about the industry’s prospects of escaping excessive, innovation-crushing regulation in the US.
Thirdly, this is far, far bigger than personal genomics. The FDA is clearly angling to exert its control over a much broader range of tests, meaning its regulatory claws will likely sink into thousands of small non-profit labs performing custom diagnostics for rare diseases, as well as startups seeking to build new technologies for genetic testing. The suffocating effects of this power-grab will be felt well beyond our little circle of personal genomics afficianados.
Finally, I do expect the industry to survive; but if the regulators have their way, it won’t be in the US. Instead, the startups and entrepreneurs that are building the technologies required for the new era of genomic medicine will quietly pack up their tools and move to Singapore and Hong Kong. That’s great, but things are different in Singapore. People will still be buying genetic testing products; but an opportunity to build a scientifically-based, socially responsible personal genomics industry in the US will be gone.
A grim day
On a personal note, today has been a difficult one for me. For all the faults of individual companies, the personal genomics industry has always excited me. Here, for the first time in history, has been an opportunity for individuals to peer inside their own genomes – to trace patterns of inheritance within their families at the raw genetic level, and to engage with the complex, messy reality of modern genetics. Here has been a unique chance for the creation of a community of genetically literate individuals, eagerly watching each advance in genomic research as it revealed new insights into their own past and future. And here, for all its imperfection, was a hint of the shape of the shiny genomic era to come.
I don’t know how much of this will survive the next few months; but if the regulators are allowed to have their way, it will be dismantled piece by painful piece – and that makes me angrier than I’ve been in a long time.