This week was pretty hectic, so there were plenty of useful or interesting links from the personal genomics world that I didn't have time to write about in detail. Feel free to share your own suggestions in the comments.
Responses to the Congress/FDA crack-down
As all of you will be aware, the big news this week revolved around the debate over the regulatory future of the direct-to-consumer (DTC) genetic testing industry, following a brutal Congressional hearing into the industry last Thursday that featured a scathing report by the US Government Accountability Office.
Over at Genomes Unzipped several of us weighed in with their views, showcasing a variety of opinions within the group. I launched an angry response in the immediate aftermath of the hearings, pointing out that regulation comes at a cost - and that too heavy a hand from the FDA could do permanent damage extending far beyond the DTC industry. This week, Caroline Wright argued that regulators needed to pay heed to the educational value of personal genomics, Jeff Barrett and Kate Morley argued that increased regulation of medical genetic testing was warranted, Luke Jostins summed up the two sides of the argument, and Dan Vorhaus gave us a list of key issues to address as we move forward.
- INFORMATION: Appropriate information and a proportionate set of consent procedures should be in place prior to testing, such that the citizen is unambiguously informed about the nature of what he or she will receive by way of information and its possible implications
- ANALYTICAL VALIDITY: Laboratories providing an assay service should undergo accreditation procedures and subject themselves to stringent QA requirements (e.g. CLIA certification in the US), so that citizens themselves can have confidence in the genotypes that are generated
- SCIENTIFIC VALIDITY: Statutory regulations should be put in place to ensure that the scientific validity of the clinical claim is established, i.e. the link between the disorder and the genetic variant is established as a true and real relationship
- ACCESS TO ADVICE: All providers should ensure that consumers have access to named and appropriately qualified professionals with the necessary competence to interpret the assay measurement and provide advice and support to consumers regarding the interpretation of the test result to consumers
- CLAIMS: Guidelines and consumer protection regulations should either be strengthened to prevent misleading claims for the product or service, including unsubstantiated and overhyped assertions concerning clinical utility, or action should be taken to ensure that existing regulatory powers are enforced
Opinions elsewhere were startlingly divided. On the one hand, Ronald Bailey at the Reason Foundation said that he didn't "want or need federal regulators to protect me from my own test results"; and Misha Angrist had a brilliant critique of the hearing:
But let's not kid ourselves: this dog and pony show was as much an opportunity for chest beating and righteous indignation as it was for "protecting the public health." It was an opportunity for politicians to scream "snake oil" and fret about the possibility of their constituents "jumping off a building" as much as it was an attempt to bring about constructive change to a nascent industry's practices. Why is that? Why is the demand for data never made of the alarmists? Why do the companies not get to see the GAO's report ahead of time? Why did the FDA exhibit a genuine spirit of open inquiry and invite a broad range of stakeholders to its meeting while Congress could not be bothered to do the same? Why does the outcome of such hearings always seem to be a foregone conclusion?
What game is that exactly?
At the other end of the spectrum, bioethicist Arthur Caplan pushed the paternalistic medical establishment line, confidently informing us that "the current accuracy of the tests can't tell you anything you would really want to know"; call me idealistic, but I think that's a decision for consumers to make. Meanwhile, a consultant who makes her living guiding companies through the arbitrary maze of FDA regulation gloated about the looming death of DTC genetics.
Somewhere in the middle, Peter Aldhous argued in New Scientist that regulation could save rather than kill the industry:
Some form of regulation is clearly needed. If it is not too heavy-handed, the FDA's involvement could help move the industry into the mainstream. Genome scans could be useful in predicting a person's response to commonly used drugs, helping to determine, for example, the optimum dose they should receive. If so, then FDA involvement will be crucial as drug labels will need to indicate how prescriptions should be modified in the light of genetic information.
Finally, there was a solid recap of the turmoil by Nature writer Alla Katsnelson.
You know, I was thinking about another missing piece in this arena--but it's not related to the legal details. There needs to be an Orac-ian style debunking of genome-woo. Someplace that bloggers and internet searchers could find stuff that's the equivalent of anti-vaccine lunacy, but on this topic.
It would be a real public service.
Watch this space. :-)
Mary, that's a great idea. May I suggest as the first purveyor of genome woo the GAO's Gregory Kutz. Guy actually thinks "low risk" means "will not have condition", fundamentally misunderstanding nature of risk!
Oh another good example would be these people who are like "if you get your genome sequenced you'll jump off a briiiiidge". Ummm and how many peer reviewed studies show increase in suicidal ideation after sequencing again?
There is no shortage of real psychos out there, like Helen Wallace at GeneWatch UK. Take a look at this "People's History of the Genome", in which the Human Genome Project becomes a century long conspiracy complete with grassy knolls.