Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States: A simulation analysis.

ABSTRACT: Objective There is no coordinated cascade testing program for familial hypercholesterolemia (FH) in the U.S. We evaluated the contemporary cost-effectiveness of cascade genetic testing relatives of FH probands with a pathogenic variant. Methods A simulation model was created to simulate multiple family trees starting with progenitor individuals carrying a pathogenic variant for FH who were followed through several generations. This approach allowed us to examine a family tree that had grown sufficiently to have large numbers of relatives across multiple degrees of relatedness. The model estimated costs and life years gained (LYG) when cascade genetic testing was implemented for relatives of FH probands identified through standard care who were at or older than designated age

SUBMITTER: Jackson CL 

PROVIDER: S-EPMC8403726 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature