In three commentaries in the New England Journal of Medicine, Children's Hospital's Joel Hirschhorn, Duke's David Goldstein, and Harvard's Peter Kraft and David Hunter discuss the complexity basis of common genetic diseases. The New York Times' Nicholas Wade characterizes the disagreements among the researchers as "whether, despite the prospect of diminishing returns, to continue with the genomewide studies, which cost many millions of dollars apiece, or switch to a new approach." Hirschhorn is optimistic. "I predict that by the 2012 ASHG meeting, genomewide association studies will have yielded important new biologic insights for at least four common diseases or polygenic traits," he writes. Goldstein is less so, suggesting that the "modest effect of common variation on most human disease" should lead researchers to instead focus on uncovering rare variants. Kraft and Hunter take the middle way and write that the risk estimates need to be refined as it's "too early in the cycle of discovery for most tests that are based on newly discovered associations to provide stable estimates of genetic risk for many diseases."
What to Do With the GWAS
Apr 16, 2009