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ACMG releases report on incidental findings in clinical exome and genome sequencing
Date:3/21/2013

rocess by a Working Group comprised of medical and laboratory geneticists from leading institutions and outside reviewers. The process produced recommendations that were ultimately reviewed and approved by the ACMG Board of Directors, which is comprised of board-certified clinical and laboratory medical genetics healthcare professionals. The report includes detailed recommendations as well as the background and rationale for these recommendations.

Dr. Wayne Grody, FACMG, president of the ACMG said, "This Report is tremendously important because it begins to standardize the process by which the comprehensive power of genomic sequencing can be tailored to optimally benefit patients when clinically important findings not directly related to the primary reason for ordering the test are revealed. We recommend that labs performing clinical exome and genome sequencing recognize and report significant mutations for the serious diseases specified in the Report."

The ACMG report generated a short list of well-understood conditions/genes/variants for which the possibility exists of medical intervention with high benefit to those carrying the variants if they are detected presymptomatically.

Robert C. Green, MD, FACMG, a medical geneticist at Brigham and Women's Hospital and Harvard Medical School, co-chaired the Working Group and was lead author of the Report. "The genome has an extraordinary potential for providing health-related information about both rare and common conditions, but it has been difficult to draw a line and suggest that one set of findings should be part of the medical report and another set should not," said Dr. Green. "In these recommendations, despite a scarcity of clear scientific evidence, we have identified a small number of conditions, genes and variants through consensus that are likely to have a positive impact upon the health of patients and their families if identified incidentally."

Leslie G. Biesecker, MD,
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Contact: Kathy Ridgely Beal
kbeal@acmg.net
301-238-4582
American College of Medical Genetics
Source:Eurekalert

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