PT  - JOURNAL ARTICLE
AU  - Kyle A. Beauchamp
AU  - Katherine A. Johansen Taber
AU  - Dale Muzzey
TI  - Clinical Impact and Cost-Effectiveness of a 176-Condition Expanded Carrier Screen
AID  - 10.1101/372334
DP  - 2018 Jan 01
TA  - bioRxiv
PG  - 372334
4099  - http://biorxiv.org/content/early/2018/07/24/372334.short
4100  - http://biorxiv.org/content/early/2018/07/24/372334.full
AB  - Purpose Carrier screening identifies couples at high risk for conceiving offspring affected with serious heritable conditions. Minimal screening guidelines mandate testing for cystic fibrosis and spinal muscular atrophy, but expanded carrier screening (ECS) assesses reproductive risk for hundreds of conditions simultaneously. Although medical societies consider ECS an acceptable practice, the health economics of ECS remain incompletely characterized.Methods The clinical impact and cost-effectiveness of a 176-condition ECS panel were investigated using a decision-tree model comparing minimal screening and ECS in a preconception setting. Carrier rates from >50,000 patients informed disease-incidence estimates, while cost and life-years-lost data were aggregated from the literature and a cost-of-care database. Model robustness was evaluated using one-way and probabilistic sensitivity analyses.Results For every 100,000 pregnancies, 300 are predicted to be affected by ECS-panel conditions, which, on average, individually incur $1,300,000 in lifetime costs and increase mortality by 26 undiscounted life-years on average. Relative to minimal screening, ECS reduces the affected-birth rate and is cost-effective (i.e., <$50,000 incremental cost per life-year), findings robust to reasonable model-parameter perturbation.Conclusion ECS is predicted to reduce the population burden of Mendelian disease in a cost-effective manner compared to many other common medical interventions.