What to Make of Genomewide Association Studies?

Nicholas Wade has an overview in the New York Times of a package of articles released this week in the New England Journal of Medicine about the limits of genomewide association studies. At issue is the fact that such studies have not revealed as many concrete links between genotype and the risk factors for common diseases as originally expected. For the scientists interviewed in the article, there remains a question about the allocation of research resources to more genomewide studies, or more complete sequences of individual genomes. Wade explains:

The problem addressed in the commentaries is that these diseases were expected to be promoted by genetic variations that are common in the population. More than 100 genomewide association studies, often involving thousands of patients in several countries, have now been completed for many diseases, and some common variants have been found. But in almost all cases they carry only a modest risk for the disease. Most of the genetic link to disease remains unexplained.

Another issue is the difficulty of making useful clinical recommendations to patients based soley on their personal genetic information. But just as these commentaries on the limitations of genomewide studies appear, the National Human Genome Research Institute has annouced that it is looking to partner with an outside organization for a one-year  outreach campaign to increase public awareness of genomic research, and its medical, ethical, and social impact. The effort is important, but organizers will obviously have their work cut out for them if researchers are still scratching their heads at what to make of all  the information. For more, see Michael Rugnetta’s coverage of NHGRI’s new catalog of genomewide association studies.

Image: flickr.com/ethanhein

Tags: genetics

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