In The Field

ASHG guest post: Medical relevance or bust

I’ve got another fabulous guest post from Chris Gunter

At the Presidential Symposium, speakers pleaded the case for personal genomes and for Philadelphia. First was Philly mayor Michael Nutter, who assured us he knew absolutely nothing about genetics but joked that geneticists must have big expense accounts and the people of Philly would be very grateful if we could leave some of that money here with them.

J. Craig Venter of the self-titled institute gave us a tour of his publication history and then of his own genome. (In an overlap with the carbon conference that Nature is also currently blogging, he announced that his J. Craig Venter Institute was building the first zero-carbon research building, on the UCSD campus.) As for his genes, he’s heterozygous in 44% of them, and he’s anxious to see this information translate into medical practice. “To me it’s not surprising that pharmaceuticals don’t work on everybody” because we are so different. In fact, “it’s amazing that they work on up to 1/3 of the population.” He reiterated his call for predictive power from the genome: “I have been arguing for some time that going to a preventative medicine paradigm is one of the few ways we have to lower health-care costs.”

Richard Gibbs of Baylor College of Medicine, the second speaker, picked up on the theme but stated that “we” –presumably meaning the genomics community – thought that there would be an orderly transition to genomic medicine, one would just walk into the doctor’s office and get genomic information and interpretation quickly. But we did not foresee the widespread distribution of direct-to-consumer tests, and the confusion that has resulted. We are driven by amazing advances in technology and therefore able to get mountains of genomic information, but we don’t really know what to do with it all. His personal experience, of course, is from sequencing Jim Watson’s genome. “We brought Watson to Houston for a genetic counselling session, which was pretty much a complete failure” because there were 320 loci with “suspicious” differences, based on the existing databases, and the counsellors were just overwhelmed.

Talk about overwhelming: In a plenary session on Wednesday David Kaufman of the Genetics & Public Policy Center told us that 60% of survey respondents would participate in genetic testing for a major medical research survey, and more than 90% of these said they would want to see their individual results (more on their survey here). So, it’s obvious the human geneticists have work to do in developing accurate but understandable interpretations of genetic tests. Any scientists out there who are not geneticists – please feel free to join the field, because we need you. All the better if you come with a big expense account.

Posted on behalf of Chris Gunter, HudsonAlpha Institute for Biotechnology


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