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Monday, July 25, 2011

Genetic testing for aldehyde dehydrogenase 2 deficiency in young adults

Last May administrators at the University of California, Berkeley announced plans to offer voluntary genetic testing for incoming students. Over the summer ~5500 undergraduates received a DNA collection kit in the mail. More than 700 students responded by returning a saliva sample for the analysis of three common polymorphisms. The exercise, titled Bring Your Genes to Cal, was this year's iteration of Berkeley's On the Same Page program (, intended to provide incoming students with a shared didactic experience. Although the controversy generated by the project ultimately forced administrators to alter its scope, the resulting debate was useful in highlighting the challenges of inoculating public audiences to the topic of personalized genomics and instituting a framework for formal education in this area. Two particularly prominent issues raised by the project concern the need for genetic tests to be accompanied by complete and accurate clinical information, and the potential shortfalls of over-regulating access to personalized genetic test results.

The announcement of Bring Your Genes to Cal generated immediate criticism and opposition, which even included attempted legislation to block the project. Citing ethical and privacy concerns, a bill (AB 70) introduced by one California Assemblyman requested that the University refrain from making ‘unsolicited requests to submit to genetic testing’ and sought financial penalties equal to any expenditures related to the project. Following considerable public debate, the California Department of Public Health (CDPH) delivered the coup de grace by ruling in August that the critical component of the project—providing students with online access to individualized test results—could not proceed as planned. Although genetic feedback would have occurred on a voluntary, anonymous basis (and was approved by Berkeley's Institutional Review Board), the CDPH deemed that this approach required physician oversight and the use of a federally certified clinical laboratory. Instead of providing participants with individualized test results, project organizers resorted to presenting aggregated test results to students during a lecture in September. The three genetic variants selected for the project have functional significance for metabolism of lactose (LCT), folic acid (MTHFR) and alcohol (ALDH2). Given the population, it was obvious the latter would generate the most attention. The approach in focusing on ALDH2—as well as the CDPH ruling, which precluded Berkeley from communicating individual test results—each raise important issues concerning the delivery of personalized risk information based on common genetic variants. > > > > Read More