Helpful, Harmful, Confusing: Direct-to-Consumer Genomics

December 8, 2011 | James Evans, professor of genetics at the University of North Carolina, is concerned about exome sequencing services like those offered by 23andMe. In a commentary published yesterday in JAMA, Evans and UNC co-author Jonathan Berg argue that whole genome and whole exome sequencing technology “will routinely uncover both trivial and important medical results, both welcome and unwelcome… and presents the medical community with new challenges.” The tests have the power to "help, hurt and to confuse" says Evans.

Until recently, Evans says, direct-to-consumer genomics was "rather trivial from the standpoint of either benefits or threats." But new whole genome and whole exome sequencing offerings tread into more serious medical territory, and Evans and Burg call for more serious regulation. “Basically, what we call for is that this new generation of medical testing be treated like other medical tests that involve complex medical information–and that there should be a reasonable expectation that an individual who gets it done has some relationship with a qualified care provider.” 

UNC press release. JAMA Commentary (subscription required for full text)