Last week's Journal of the American Medical Association (JAMA) includes a paper from the Electronic Medical Records and Genomics (eMERGE) Network that presents important new information on the interpretation of gene variants. Using a Big Data approach to electronic health records, eMERGE found evidence that having a potentially harmful genetic variant for two life-threatening disorders does not always translate into developing the actual diseases. An article in STAT explores the significance of the eMERGE findings, featuring short essays by three renowned scholars: Ellen Wright Clayton of Vanderbilt University, Michael Murray of Geisinger Health System and Consortium chair Susan M. Wolf. In her piece, Wolf discusses the JAMA paper in the context of recommendations on return of results regarding incidental findings by the American College of Medical Genetics (ACMG); she previously published an article on her concerns with those recommendations in the Annual Review of Human Genetics. On a related note, the Consortium hosted Prof. Rex Chisholm, PhD, of the eMERGE Network last spring; you can view his lecture here.
Monday, January 11, 2016