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

Area of Science:

• Reproductive genetics
• Health economics
• Medical genetics

Background:

• Carrier screening is crucial for identifying couples at risk of passing on serious heritable conditions.
• Current guidelines recommend limited screening, while expanded carrier screening (ECS) evaluates hundreds of conditions concurrently.
• The health economics of ECS are not fully understood, despite its acceptance by medical societies.

Purpose of the Study:

• To evaluate the health economics of preconception expanded carrier screening (ECS) compared to minimal screening protocols.
• To model the cost-effectiveness of a 176-condition ECS panel for identifying couples at high risk for genetic disorders.

Main Methods:

• A decision tree model compared minimal screening with a 176-condition ECS panel.
• Carrier rates from over 60,000 patients informed disease incidence estimates.
• Cost and life-years-lost data were aggregated from literature and a cost-of-care database; model robustness was tested via sensitivity analyses.

Main Results:

• Preconception ECS is predicted to reduce the affected birth rate by 290 per 100,000 pregnancies for ECS-panel conditions.
• These conditions increase mortality by an average of 26 life-years and incur $1,100,000 in lifetime costs per affected individual.
• ECS is estimated to be cost-effective, with an incremental cost under $50,000 per life-year gained compared to minimal screening.

Conclusions:

• Preconception ECS is a cost-effective strategy for reducing the burden of Mendelian diseases, particularly for patients with private insurance.
• The study provides a framework for assessing the economic impact of ECS in diverse patient populations.
• Expanded carrier screening offers significant benefits in reducing the incidence of genetic disorders.