Robin L. Bennett

TL;DR: In this paper, the authors classified actionable pathogenic single-nucleotide variants in 500 European-and 500 African-descent participants randomly selected from the National Heart, Lung, and Blood Institute Exome Sequencing Project.

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: Recommendations for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age raise concerns and are inconsistent with established norms.

TL;DR: These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing.

TL;DR: The data indicate a shortage of genetic counselors engaged in direct patient care, and it is reasonable to expect that the number of new programs may be higher than anticipated by 2026, assuming that growth in programs is matched by equivalent growth in clinical training slots.