Exploring concordance and discordance for return of incidental findings from clinical sequencing

• Published in: Genetics in medicine Vol. 14; no. 4; pp. 405 - 410
• Main Authors: Green, Robert C., Berg, Jonathan S., Berry, Gerard T., Biesecker, Leslie G., Dimmock, David P., Evans, James P., Grody, Wayne W., Hegde, Madhuri R., Kalia, Sarah, Korf, Bruce R., Krantz, Ian, McGuire, Amy L., Miller, David T., Murray, Michael F., Nussbaum, Robert L., Plon, Sharon E., Rehm, Heidi L., Jacob, Howard J.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.04.2012; Elsevier Limited
• Subjects: 631/208/514; 706/648/697/129; Adult; Biomedical and Life Sciences; Biomedicine; Child; Children; Discordance; Genetic Predisposition to Disease - genetics; Genetics, Medical - ethics; Genetics, Medical - statistics & numerical data; Genome, Human - genetics; Genomes; Human Genetics; Humans; Incidental Findings; Laboratory Medicine; Mutation; Research Subjects; Sequence Analysis, DNA - ethics; Sequence Analysis, DNA - methods; special-article; Truth Disclosure - ethics; whole-exome sequencing; whole-genome sequencing; incidental findings

Purpose: The aim of this study was to explore specific conditions and types of genetic variants that specialists in genetics recommend should be returned as incidental findings in clinical sequencing. Methods: Sixteen specialists in clinical genetics and/or molecular medicine selected variants in 99...