Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review

摘要: The American College of Medical Genetics and Genomics (ACMG) recommends that mutations in 56 genes for 24 conditions are clinically actionable should be reported as secondary findings after whole-genome sequencing (WGS). Our aim was to identify published economic evaluations detecting these among the general population or targeted/high-risk populations gaps knowledge. A targeted PubMed search from 1994 through November 2014 performed, we included original, English-language articles reporting cost-effectiveness a cost-to-utility ratio net benefits/benefit-cost focused on screening (not treatment) listed by ACMG. Articles were screened, classified targeting high-risk population, abstracted two reviewers. General studies evaluated actual measures (e.g., incremental ratios (ICER)), whereas whether at least one scenario proposed cost-effective ICER ≤$100,000 per life-year quality-adjusted gained). total 607 identified, 32 relevant included. Identified addressed fewer than one-third (7 24; 29%) ACMG conditions. examined only 2 (8%). most genetic return has not been context population. individual do directly address WGS.