Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program

Abstract

Purpose: To explore the cost-effectiveness of school-based multidisease genetic carrier screening. Method: Decision analysis of the cost-effectiveness of a school-based Tay-Sachs disease and cystic fibrosis genetic carrier screening program, relative to no screening. Data relating to ethnicity profile, test-accepting behavior, and screening program cost were sourced from an existing program in Sydney, Australia. Results: Compared to no screening, the incremental cost-effectiveness of the screening program is A$5,834 per additional carrier detected. This cost-effectiveness ratio is most sensitive to changes in genetic test accuracy, and the cost of laboratory assays. The results imply a cost per affected birth avoided of approximately A$530,000 (≈ US$371,000). Conclusions: This preconceptional genetic carrier screening program offers comparable cost-effectiveness to prenatal screening programs for cystic fibrosis.