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As I noted yesterday, today marks the beginning of a two-day meeting being held in Maryland by the US Food and Drug Administration to help decide the future of regulation for the direct-to-consumer genetic testing industry.
I’ve followed the meeting from a distance – not via a live video feed (annoyingly for a “public meeting” this hasn’t been provided), but instead thanks to the superlative Twitter coverage from Dan Vorhaus (who also spoke at the meeting this afternoon and thoughtfully posted his slides online) and a handful of others, including Alicia Ault and Rosalyn Gill.
Here are some of the major messages I took from the first half of today’s coverage; bear in mind that most of it has been reconstructed from 140-character reports, so caveat emptor: The FDA’s Liz Mansfield kicked off the day with a historical overview of the DTC genetic testing industry – for a comprehensive analysis of this topic, see Dan Vorhaus’ encyclopaedic post from August last year. She was followed by the NHGRI’s Teri Manolio, who provided background on the science behind the genetics of complex traits, but was surprisingly uninformative about the implications of that science for DTC genomics: in response to a question from the panel about this link, Manolio replied that she was “not that familiar with the type of claims these [DTC] companies are making,” reports Vorhaus. That seems a curious state of affairs for someone called as an expert to a hearing into the industry.
Next up was Stuart Hogarth from King’s College London, who attempted the audacious task of reviewing the global state of affairs in the regulation of DTC genetics, noting the fascinating variation between countries. For instance, DTC genetic testing is banned in South Korea and Germany [see below], restricted to varying degrees in Australia based on a risk assessment, and guided largely by industry self-regulation in Japan and the UK. Hogarth finished by expressing skepticism that the DTC model is economically viable, citing 23andMe layoffs in 2009 and the bankruptcy of deCODE Genetics. I agree with Dan that this argument is far from compelling; the industry has been exploring a range of wildly different business models in its young life, while labouring under massive regulatory uncertainty. Those pondering the question of whether sufficiently large numbers of people are sufficiently interested in their genomes to fuel a growth industry will have to wait a few more years for a clear answer.
[Added in edit: via email, Barbara Prainsack informs me that the characterisation of DTC testing as “banned” in Germany is incorrect. She says that people involved in preparing the German law told her that “there is wide consensus that DTC PG is in a grey area not covered by the Genetic Diagnosis Law. And even if the remit of the law were seen as wider in this respect, then it would and could only apply to DTC PG companies in Germany, not to those operating abroad.” Further edit: a clarification from Stuart Hogarth by email is appended to the end of this post, and he has also made the slides from his talk available online.]
Then came what was clearly the low point of the day: Nancy Wexler from the Hereditary Disease Foundation. Wexler took an extremely negative line on DTC genetic testing, arguing that “DTC companies should be closed and DTC should be eliminated“. She appears to have justified this position primarily based on her personal experience of a friend diagnosed with Huntington’s disease who committed suicide, and the existence of flagrant scammers such as the My Gene Profile. Wexler’s rhetoric climaxed with her appalling description of DTC companies as “raping the Human Genome Project”.
Regular readers will know enough to be aware that Wexler’s rhetoric is overblown, bordering on hysteria. Firstly, as Shirley Wu noted, the anecdote of someone committing suicide after learning of their carrier status for Huntington’s disease is if anything an example of the failure of the existing medical system (no DTC company on the market currently offers targeted Huntington’s testing). The evidence available to date regarding the responses of DTC testing customers to receiving genetic risk information, as presented today by Cinnamon Bloss from Scripps and Ashley Gould from 23andMe (who has made her slides available online), while still limited, strongly suggests that such extreme responses are vanishingly rare for the types of information currently provided by DTC companies. In the absence of complete absence of hard evidence for actual harm done by DTC tests, regulators should put consumer autonomy before anecdote-driven hysteria.
Secondly, using My Gene Profile as an example of a DTC genetic testing company is absurd. The company is a Singapore-based scam operation based on shady marketing to gullible parents. Using a foreign-owned bottom-feeder to attempt to discredit the responsible companies operating in the DTC genomics space (such as 23andMe and deCODEme) is like saying that the potential harm done by Nigerian spammers means that Google shouldn’t be allowed to offer its email services in the US – for the protection of its users, of course.
Finally, Wexler’s should be profoundly ashamed of her appeal to a rape analogy – which she apparently brought out twice during her presentation. Providing customers with an interface that can be used to access their own genetic information is not, in any way, a violation of the principles of the Human Genome Project. As the NCBI’s Deanna Church argued, the purpose of the HGP was to release data on the human genome sequence into the public domain for use by anyone, including those with a commercial interest. Indeed, companies like 23andMe have allowed over 75,000 people to make practical use of the data from the HGP and subsequent large-scale genomics projects – an accomplishment that should be praised, not subjected to offensive analogies.
As a sensible counter-point to Wexler’s madness, Dan Vorhaus provided his more balanced take on the industry, which you can follow using his slides.
I’m hopeful that Dan will also provide a more coherent and comprehensive round-up of the key lessons from today’s meeting over at Genomics Law Report, as I unfortunately don’t have time right now to cover the remainder of the day’s presentations, and particularly the gory details of the lengthy, chaotic panel discussion.
My overall impression from reports on the panel discussion, though, is somewhat ominous: both Dan and Alicia noted an apparent consensus among the panel members that genetic results should be returned via a physician. As I argued last month, this is an obsolete, paternalistic vision for genomic medicine that flies in the face of primary physicians’ self-admitted ignorance of genetics, and will become simply untenable as we enter the era of cheap whole-genome sequencing. I can only hope the panel begins to take a more forward-looking view as the meeting progresses.
Update: Dan delivers, with a concise summary of the historical context and likely implications of the day’s events. Here’s the rather ominous take-home message:
In other words, we’re likely to see a panel recommendation to the FDA that health-related DTC genetics be scrapped. That would be a terrible outcome, but of course it wouldn’t necessarily translate into actual FDA action. Dan continues:
Update on the issue of German laws: Here is an email sent to me by Stuart Hogarth today clarifying the situation in Germany:
