The GAO, Congress and the public on genetic testing

The Subcommittee on Oversight and Investigations of the House of Representatives Committee on Energy and Commerce held a hearing on "Direct-To-Consumer Genetic Testing and the Consequences to the Public Health" on Thursday. I haven't seen any news after the fact, but it was covered by the 23andMe blog "The Spittoon," where I got the link to the committee's own website (which has copies of the testimony). The hearing included a report from the GAO which made a strong case for regulation of direct-to-consumer testing, including an extremely disturbing "video" which appeared on YouTube ("video" in quotes because it's actually just recordings of telephone calls with the words printed on screen). I think that it is almost certain that new regulations will emerge soon.

23andMe customers have responded, and there is a petition calling for continued access to genetic information. I signed it myself, making this statement:

I certainly recognize the need to insure that test results are valid. However, I'm not sure that goes beyond CLIA certification. I also recognize the need to protect consumers from misinformation and bad advice from the unqualified. However, I'm not sure that is within the FDA's purview. My main point is that secure and private access to reliable personal genetic information is a valuable thing that does not put the consumer at undo risk.

That said, regulations that protect consumers from bad advice may be appropriate. However, it's going to be tricky, because we're talking about regulation of speech and education. I hope that the regulations are written in a way that encourages the broad dissemination of genetic knowledge from the many reliable sources currently available.

FDA's public hearing on genetic tests

The FDA had a public hearing on our campus this week (Monday and Tuesday) about oversight of “laboratory developed tests” (including direct-to-consumer genetic tests). I dropped by for the last two sessions (on direct-to-consumer tests and education and outreach). Each included presentations from interested parties (the “public” in this case being representatives from companies selling direct-to-consumer tests, professional and educational organizations), a panel discussion and comments. FDA officials sat on the podium but did not speak. There were a few hundred people there, and it was a sophisticated group (at least the speakers felt no need to define BRCA, GWAS, CLIA, QSR, DTC, LDT, IVDMIA, NIH, CDC, FTC, NIST, NSGC or many other acronyms). I spent a lot of the time Googling jargon with my phone.

It was very interesting. I got the feeling that genotyping companies such as 23andMe will not be able to continue to operate as they have for a lot longer. I heard several people call for physicians being involved in "ordering the test" and "interpreting the test." Already, New York and Maryland prohibit people from obtaining their own genetic information from direct-to-consumer companies.

Of course one problem is that the typical family care physician probably knows even less about genetics and how to interpret the results of these tests than the typical 23andMe customer, and that was not lost on many of the people there. Everyone recognized the need for educating both consumers and physicians. One particularly original idea was that consumers should have to pass a test analogous to a driver’s test (as is currenly done at the Personal Genome Project).

My reaction was to come home and download my personal data from 23andMe so that I can be assured of continued access to it. I am concerned to see what the FDA decides to do.

The FDA and me, and you, and our genetic information

The FDA is holding a public meeting on "Oversight of Laboratory Developed Tests (LDTs)" on my campus (University of Maryland) today and tomorrow. Registration is closed, but it's possible to view the proceedings via webcast (here). I am doing that now (I'm watching Judith Wilber right now). I stopped by briefly this morning and hope to go back tomorrow afternoon. The topic has been in the news a bit lately (see my links under right to know on delicious), and there are legitimate issues to address.

I have expressed my opinion in favor of our right to know our own genetic makeup on my blog and will only briefly restate those arguments further here. My preference would be that oversight and approval of genotype "tests" (including whole-genome sequencing) be limited to technical standards (Are the genotype results are accurate?), but that rules and oversight are appropriate for interpretation and guidance. A genotype is information, and it may be best to separate genotyping tests from the recommendations based on them to the extent possible. Asking a genotyping service to imagine the clinical and medical utility of their tests is a bit like asking the manufacturer of bathroom scales to prove that knowing one's weight is medically useful. Clinical utility should not be a criterion for genotype tests that provide accurate and reliable information. I'm not saying that the FDA should not protect consumers from bad advice, but that in the case of genotype information, this can and should be separated from the regulation of tests per se.