Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

摘要: As genomic and exomic testing expands in both the research clinical arenas, determining whether, how, which incidental findings to return ordering clinician patient becomes increasingly important. Although opinion is varied on what should be returned consenting patients or participants, most experts agree that of medically actionable results considered. There insufficient evidence fully inform evidence-based practice guidelines regarding from genome-scale sequencing, thus generation such imperative, given rapidity with diagnostic tests are being incorporated into care. We present an overview approaches by members Clinical Sequencing Exploratory Research network, funded National Human Genome Institute, generate discussion these genomics community. also report specific lists "medically actionable" genes have been generated a subset investigators order explore types included excluded various contexts. A general principles reporting novel variants, challenging cases (genes for consensus was difficult achieve across network sites), solicitation preferences participants findings, timing context provided.Genet Med 15 11, 860-867.Genetics Medicine (2013); 860-867. doi:10.1038/gim.2013.133.