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Implementing preconception expanded carrier screening in a universal health care system: A model-based
Andrea Busnelli1, Oriana Ciani2, Silvia Caroselli3
1Department of Biomedical Sciences, Humanitas University, Pieve Emanuele-Milan, Italy; IRCCS Humanitas Research Hospital, Rozzano-Milan, Italy.
Summary
Expanded carrier screening (ECS) panels are more cost-effective than no screening for Italian couples. This study evaluated three ECS panels, finding them economically favorable for the universal health care system.
Area of Science:
- Medical Genetics
- Health Economics
- Public Health
Background:
- Limited evidence on cost-effectiveness (CE) hinders expanded carrier screening (ECS) adoption globally, including in Italy.
- Italy currently employs a no-screening model for genetic risk assessment in pregnancy planning.
Purpose of the Study:
- To estimate the CE of three ECS panels against the current no-screening approach in Italy.
- To inform policy decisions regarding the implementation of ECS within the Italian universal health care system.
Main Methods:
- A CE model was developed from the perspective of the Italian universal health care system.
- The model simulated three ECS panels: ACMG Tier 1, Focused Screening, and ACMG Tier 3.
- Assumptions included 100% sensitivity, 77% intervention rate for at-risk couples, and no conception risk for risk-averse couples pursuing interventions.
Main Results:
- All three ECS panels demonstrated a positive CE compared to no screening.
- Incremental CE ratios were -€14,875 ± 1,208/LYG for ACMG1S, -€106,863 ± 2,379/LYG for Focused Screening, and -€47,277 ± 1,430/LYG for ACMG3S.
- ACMG1S and Focused Screening were found to be dominated by ACMG3S, indicating superior value.
Conclusions:
- All evaluated ECS panels present a more cost-effective strategy than the current no-screening model in Italy.
- The findings support the integration of ECS into the Italian universal health care system for improved economic efficiency.
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