Dorschner et al. estimated the number of expected actionable findings in a cohort of 1,000 participants randomly selected from the National Heart, Lung, and Blood Institute Exome Sequencing Project (500 European; 500 African-descent individuals).
The participants were screened for variants in 114 genes pre-selected by an expert panel for their association with medically actionable genetic conditions possibly undiagnosed in adults.
Approximately, 3.4% for European descent and 1.2% for African descent were concluded to have high-penetrance actionable pathogenic or likely pathogenic variants in adults. The process of classifying the variants identified (in total, 585 instances of 239 unique variants) emphasizes the need for a centralized resource to provide curated information on pathogenicity for clinical use.
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes. Dorschner et al. Am J Hum Genet. PMID: 24055113
Posted by Yannis Trakadis, MD