Journal
GENETICS IN MEDICINE
Volume 19, Issue 2, Pages 249-255Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2016.190
Keywords
exome sequencing; genetic testing; genome sequencing; incidental findings; secondary findings
Categories
Funding
- 23andMe
- Rxight Pharmacogenetics
- Sequenom
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To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American College of Medi.cal Genetics and Genomics (ACMG) published a minimum list of genes to be reported as incidental or secondary findings. The goal was to identify and manage risks forselected highly penetrant genetic disorders through established interventions aimed at preventing or significantly reducing morbidity and mortality. The ACMG subsequently established the Secondary Findings Maintenance Working Group to develop a process for curating and updating the list over time. We describe here the new process for accepting and evaluating nominations for updates to the secondary findings list. We also report outcomes from six nominations received in the initia115 months after the process was implemented. Applying the new process while upholding the core principles of the original policy statement resulted in the addition of four genes and removal of one gene; one gene did not meet criteria for inclusion. The updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing. We discuss future areas of focus, encourage continued input from the medical community, and call for research on the impact of returning genomic secondary findings.
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