Publishing Genomewide Association Studies

Jeffrey M. Drazen, M.D., and Elizabeth G. Phimister, Ph.D.
On July 18, 2007, two original research articles appeared on the Journal's Web site (and will be published in this and later print issues) conveying the results of "genomewide association studies." We anticipate that we will publish a number of such articles during the coming months and years. These articles are a major fruit of the human genome and HapMap projects, and they report variants of specific genes, or narrow genomic regions, that are associated with the presence or severity of specific clinical conditions. Because the publishing of the results of such studies is a new endeavor for the Journal, the scientific approach used to obtain the genetic inferences is outlined in a Perspective article¹ in this issue and an editorial.² Furthermore, because the information conveyed by these articles is unlikely to influence clinical practice in the coming weeks, months, or possibly years, it is reasonable to ask why we will be devoting our pages to such research.

We believe that these studies represent an important advance in medicine. They convey novel, unbiased information about the heritable basis of disease at a level of detail that has not been possible previously. For each disease, the data implicate the presence of specific inherited DNA variants that can be considered as risk factors for that condition. These studies differ from previous genetic analyses in the unprecedented level of sequence detail and genome coverage they provide. Such studies can also offer surprising insight into the nature of the causes of various conditions. For example, who would have predicted that a single genetic variant found in a sample of Icelandic and North American subjects confers a population attributable risk of about 50% for periodic leg movements in sleep?³
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