Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.

ABSTRACT:

Purpose

Carrier screening identifies couples at high risk for conceiving offspring affected with serious heritable conditions. Minimal guidelines recommend offering testing for cystic fibrosis and spinal muscular atrophy, but expanded carrier screening (ECS) assesses hundreds of conditions simultaneously. Although medical societies consider ECS an acceptable practice, the health economics of ECS remain incompletely characterized.

Methods

Preconception screening was modeled using a decision tree comparing minimal screening and a 176-condition ECS panel. Carrier rates from >60,000 patients, primarily with private insurance, informed disease incidence estimates, while cost and life-years-lost data were aggregated from the literature and a cost-of-care database. Model robustness

SUBMITTER: Beauchamp KA 

PROVIDER: S-EPMC6752320 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature