The Tempest: Following the Storm of Reactions after the GAO Report

The recent investigation by the Government Accountability Office (GAO) - which revealed a significant number of problems in the direct-to-consumer (DTC) genetic testing industry - prompted a range of reactions, from applause to pushback.

Not surprisingly, those sympathetic to the personalized medicine industry led the pushback. Some lamented how the GAO report might impact the DTC industry, while others criticized the investigation's methods. The day of the report's release, Daniel MacArthur at Genomes Unzipped blogged:

On a personal note, today has been a difficult one for me… I don't know how much of this will survive the next few months; but if the regulators are allowed to have their way, [the personal genomics industry] will be dismantled piece by painful piece - and that makes me angrier than I've been in a long time.

23andMe focused on what it considered to be the unscientific nature of the GAO's findings:

We note that while such an exercise as conducted by GAO has the potential to raise questions, it does not provide the answers that a more rigorous scientific study would provide. This report raises questions, but leads to few conclusions because of its unscientific nature. The GAO itself recognizes this, writing, "It is important to emphasize that we did not conduct a rigorous scientific study."

Adding to this, deCODE Genetics founder Kári Stefánsson argued:

Among these companies there may be one or two that do this work at an extremely high quality but others that work at a lower quality, and to judge everyone on the basis of harmony of results is not a particularly good method.

Other observers, more cautious of the DTC industry, praised the GAO for bringing to light the many questions that DTC gene tests raise, including some troubling practices by even the more respectable DTC companies. Jeremy Gruber of the Council for Responsible Genetics, voiced the sentiments of many in support of the investigation:

The GAO report, for all its flaws, has at least shown that DTC genetics companies, by providing inaccurate information about risks, are not currently meeting that interpretive standard. Furthermore, some are following unethical practices (e.g. encouraging people to send in someone else's DNA without consent), which falls well short of the conduct expected from the medical profession. To us, at least, that's sufficient grounds for heavier regulation of these aspects of the industry. 

At this point, most in the industry actually share the view that regulation of some sort is necessary. 23andMe, Navigenics and deCODE seem to consider regulation of their industry a way to force less legitimate companies out of the market. The three have even begun discussions with the FDA to get a foot in the door on crafting regulatory rules.

 Rumblings in support of regulation can also be heard over at the Genomes Unzipped blog, whose writers are not industry players though they tend toward enthusiasm about personal genomics. Their "Regulatory Week" posts produced some invaluable discussion on DTC oversight, representing a spectrum of opinions- from support for regulation by the industry to an argument for public regulation and oversight. Arguing for a more hands-off approach, Caroline Wright says:

For years, academics and policy-makers have extolled the virtues of public education and participation in science, but with limited success. What if personal genomics offers a new way to involve and interest people? To deny individuals this chance to participate in one of the greatest scientific revolutions in human history, simply because of concerns over unproven harms and latent misunderstandings, would not only be paternalistic, but undemocratic, unscientific and unwarranted.

Fellow Genomes Unzipped bloggers Katherine Morley and Luke Jostins counter:

The trickier question (where disagreement arises) is how to regulate the interpretation of those results, whether by a private company or a medical practitioner. Whereas the technical accuracy side of DTC genetics is carefully monitored, at the moment, the interpretations provided by DTC companies are sold in what is effectively a free market. For other commodities we would generally allow the market to find the right balance between the companies acting in the interest of the customer (provide them with only validated, useful information) and in their own interest (increase profits by providing a sexy story about customers' genomes). Society doesn't, however, allow the practice of medicine to operate in an open market because we place a special value on it, and therefore impose regulations to ensure a minimum standard of care.

Ultimately, the GAO report in July - characterized as a "sting operation" - kicked up a storm. Now the dust has temporarily settled. But until the FDA makes its next move, the future of the DTC industry is very much up in the air.