Earlier this week, the Oversight and Investigation subcommittee of the Energy and Commerce committee of the US House of Representatives undertook an investigation of direct-to-consumer (DTC) testing. To some, this investigation was long overdue; to others, it was a witch hunt by intrusive regulators. In any case, it’s pretty clear that this event will lead to regulatory oversight that will permanently shape genetic testing. Below, I’ve provided a few links with comments and highlights.

First, a brief reminder of some of the recent travails of DTC testing. In June 2008, the California Department of Public Health sent a “Notice to Cease and Desist Performing Genetic Testing Without Licensure or Physician Order” to several DTC companies. In the summer and fall of 2009, deCode, Navigenics, and 23andme contended with financial problems and layoffs that were widely perceived as a “refudiation“ of our readiness to transform genomic data into clinically actionable information or to make this information personally intriguing. (Yes, there are examples of both; I mean that DTC does not appeal broadly for either use — yet.) Then, in October 2009, an “An agenda for personalized medicine” made the shortcomings of DTC testing very public. On May 19, the House Energy and Commerce subcommittee on Oversight and Investigations asked three prominent DTC companies to provide information. On June 8, 2010, 23andme officially responded to reports that 96 patient samples had been mixed up by LabCorp, its CLIA-certified subcontractor. Customers received test results that were not theirs, presumably leading to at least a few cases of swapped grief and relief about genetic predispositions.1 The FDA notified five companies on June 10, and another 14 on July 19, that effectively declare an intent to regulate genetic testing (see the excellent analyses by Dan Vorhaus on the first five and the the 14 more).

With this background, the House Commerce and Energy Committee meeting was a set up for a tough day for DTC testing. There are many great sources of information and commentary. I particularly like the Genomics Law Report and Genomes Unzipped blogs, which often have links to source data. Here are some critical links that cover the pro-regulation and laissez-faire viewpoints:

http://www.gao.gov/products/GAO-10-847T
The GAO, with their 2010 report on deceptive marketing practices and the audio recordings of  telephone counseling, provided damaging testimony that will make nearly everyone’s jaw drop. Think traveling salesmen with hair tonics 100 years later. If you think these were the just the small players, think again: A counselor at Navigenics was caught on tape saying “you’d be in the high risk of, you know, pretty much getting [breast cancer]“. Don’t miss the explosive audio transcripts (3 minutes) of DTC telephone counselors with undercover customers to see exactly how bad this can get. Also see the 

2006 report titled Nutrigenetic Testing: Tests Purchased from Four Web Sites Mislead Consumers.

http://reason.com/blog/2010/07/23/feds-think-you-aretoo-stupid-t
http://www.genomesunzipped.org/2010/07/a-sad-day-for-personal-genomics.php
http://www.genomicslawreport.com/index.php/2010/07/22/from-gulf-oil-to-snake-oil-congress-takes-aim-at-dtc-genetic-testing/
http://spittoon.23andme.com/2010/07/23/gao-studies-science-non-scientifically/
http://www.genomeweb.com/blog/gao-sting-doesnt-bode-well-dtc-industry
http://www.councilforresponsiblegenetics.org/blog/post/Congress-Grills-DTC-Companies.aspx
  1. Clearly the bulk of the blame rests with LabCorp, but 23andme apparently had insufficient data analysis quality control (through, say, variants that would corroborate gender) to detect this themselves before results were made available to consumers. []