C. Sue Richards

TL;DR: The new process for accepting and evaluating nominations for updates to the secondary findings list is described, and the updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing.

TL;DR: A refined estimate of the burden of adult onset, medically actionable incidental findings expected from exome sequencing is provided, challenges in variant classification are highlighted, and the need for a better curated variant interpretation knowledge base is demonstrated.

TL;DR: The results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings.

TL;DR: The workflow and reporting procedures among US laboratories are examined to highlight shared practices and identify areas in need of standardization to enable broader consideration of which practices are becoming standard approaches, where divergence remains, and areas of development in best practice guidelines that may be helpful.

TL;DR: The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners who were planning a pregnancy.