Thursday, July 22, 2010

Direct-to-Consumer Genetic Testing Takes a Blow

That entire genomes can be sequenced, and the prices of those services continue to drop, is pretty exciting stuff. It also presents some unique opportunities for science education, explaining what results mean and how they should be interpreted. Of course, like with any new technology, there are opportunities for abuse and potential need for regulation, for example genetic discrimination by insurance companies, fears of which resulted in the Genetic Information Non-discrimination Act (GINA).

US Congress has been having hearings on direct-to-consumer genetic testing, and part of the fallout was this video:

The recordings were part of a government investigation and some of that is pretty damning. Or at least a very strong case for properly trained customer service representatives. It also underlines a need for proper pre- and post-test counseling.

Daniel MacArthur at Genomes Unzipped has a more in depth look at the full hearing proceedings, but puts things into perspective:
But overall, the document is obscenely one-sided. It conflates responsible companies offering scientifically valid products with small-time con artists. It ignores the remarkable effort that has been expended on creating intuitive interfaces that allow consumers to grasp complex risk predictions far more easily than anything you’ve seen in a GP’s practice. It ignores the remarkable technical accuracy of the companies’ products, which measure hundreds of thousands of genetic markers with an accuracy over 99.99%. It ignores the fact that the vast majority of personal genomics customers are satisfied with the experience, to the point that reporters seeking to present negative experiences need to exaggerate to do so.


gawp said...

It's going to take a while for the regulation and market niche for this stuff to be figured out.

23andMe, for example, provide a SNP analysis which they claim is not for diagnostic purposes. Clearly, it will be used as such by many. That makes such a statement just a EULA-like self exemption from clinical levels of care and quality.