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

Autor: Jackson CL; Department of Medicine, Mayo Clinic, Rochester, MN, United States., Huschka T; Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN, United States., Borah B; Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN, United States.; Division of Health Care Delivery Research, Mayo Clinic, Rochester, MN, United States., Agre K; Clinical Genomics, Mayo Clinic, Rochester, MN, United States., Zordok M; Department of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic, Rochester, MN, United States., Farwati M; Department of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic, Rochester, MN, United States., Moriarty J; Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN, United States., Kullo IJ; Department of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic, Rochester, MN, United States.; Gonda Vascular Center, Mayo Clinic, Rochester, MN, United States.
Jazyk: angličtina
Zdroj: American journal of preventive cardiology [Am J Prev Cardiol] 2021 Aug 15; Vol. 8, pp. 100245. Date of Electronic Publication: 2021 Aug 15 (Print Publication: 2021).
DOI: 10.1016/j.ajpc.2021.100245
Abstrakt: 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 thresholds (5, 10, 15, 20, 25, 30, 35, 40). Costs were valued in 2018 U.S. dollars. Future costs and LYG projected by the model were discounted at an annual rate of 3%. Results For 1st degree relatives, cascade testing at every age threshold resulted in a positive number of average LYG per person, though this number decreased as testing was started at higher age thresholds. Testing was not cost-effective if initiated at an age threshold of 40 and older but was cost-effective at younger age thresholds, with a discounted cost per LYG per person of less than $50,000. For 2nd degree relatives, testing was cost-effective with a screening age threshold of 10 but no longer cost-effective at a threshold of 15 or higher. In more distant relatives, cascade genetic testing was not beneficial or cost-effective. Conclusions Based on our simulation model, cascade genetic testing for FH in the U.S. is cost-effective if started before age 40 in 1st degree relatives and before age 15 in 2nd degree relatives.
Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: None.
(© 2021 The Authors. Published by Elsevier B.V.)
Databáze: MEDLINE