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

FACMG, co-chair of the Working Group, chief of the Genetic Disease Research Branch at the National Human Genome Research Institute said, "The implications of the ACMG recommendations are that as clinical sequencing becomes more widespread, a small percentage of families that are sequenced, perhaps not more than 1-2%, will learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for. Thus, these recommendations are an innovative approach to addressing one of the most difficult problems in genomic medicine and to help transition us toward new models of delivering genomic information."

The report concludes: "In summary, the Working Group has recommended that when a report is issued for clinically indicated exome and genome sequencing, a minimum list of conditions, genes and variants should be routinely evaluated and reported to the ordering clinician who can place them into the context of that patient's medical and family history, physical examination and other laboratory testing." It further stated, "The Working Group recognizes that this list should, and will, evolve as further empirical data are collected on the actual penetrance of these variants, and on the health benefits and costs that might follow from their disclosure as incidental findings."


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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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