Laura M. Amendola

TL;DR: Although an initial pilot of the ACMG-AMP guidelines did not lead to increased concordance in variant interpretation, comparing variant interpretations to identify differences and having a common framework to facilitate resolution of those differences were beneficial for improving agreement, allowing iterative movement toward increased reporting consistency for variants in genes associated with monogenic disease.

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: Research investigators should be prepared to return research results and incidental findings discovered in the course of their research and meeting an actionability threshold, but they have no ethical obligation to actively search for such results.

TL;DR: Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement, and to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

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.