Genetic Future's Daniel MacArthur says we've come a long way in genomic analysis, but a recent paper in the Lancet underlines how much more there is to go. The paper — based on the genome of Stephen Quake, which was published in August 2009 — employs a "state-of-the-art clinical interpretation pipeline" in order to get as much clinically-relevant information out of the genome sequence as possible, MacArthur says. The Lancet paper's authors used information from databases of both common and rare disease-associated variants, variants affecting drug metabolism, and family history, he says, to get some interesting results. The researchers found three independent rare mutations in genes associated with sudden cardiac death and high risk for myocardial infarction, type 2 diabetes and obesity. Based on the results, MacArthur says, Quake's doctors were able to recommend lipid-lowering drugs which they knew he would respond well to, based on variants in drug-metabolizing genes from his sequence. "That's a tantalizing glimpse into the future of personalized medicine using genetic information," MacArthur says. However, he cautions that the analysis is missing a lot of information; some variants were found that simply can't be interpreted and the biology of most genes isn't understood well enough to predict the effect of a particular variant. That means that whole-genome sequencing has much less of an impact than it should and "it's clear we have a lot further to go before we can extract everything of value," MacArthur adds.
Already, researchers are debating the far-reaching impact of such personalized genetics-based medical advice. MIT's Technology Review reports that Quake hasn't yet decided if he'll take the drugs his doctors suggested and says that some experts are already concerned that genetic testing on a broad basis could lead to unnecessary medical visits and drive costs even higher, even as others say widespread testing could actually drive costs down. The Guardian quotes University of Leicester cardiologist Nilesh Samani, who says personalized genetic testing opens up ethical problems. "Who should have their genome sequenced, what counseling should be provided before and after testing and by whom, and who should have access to an individual's genetic information?" Samani asks. "These issues will need to be even more carefully considered."