Article
Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2016
Douglas Michael P, Ladabaum Uri, Pletcher Mark J, Marshall Deborah A, Phillips Kathryn A
Abstract excerpt
The American College of Medical Genetics and Genomics (ACMG) recommends that mutations in 56 genes for 24 conditions are clinically actionable and should be reported as secondary findings after whole-genome sequencing (WGS). Our aim was to identify published economic evaluations of detecting mutations in these genes among the general population or among targeted/high-risk populations and conditions and identify...
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