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Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy
Gianni Ghetti1, Francesco Saverio Mennini2,3, Andrea Marcellusi2,3
1AdRes HEOR s.r.l., Via Vittorio Alfieri, 17, 10121, Turin, Italy. g.ghetti@adreshe.com.
Insights
Newborn screening for spinal muscular atrophy (SMA) is cost-effective in Italy. Early detection and treatment improve survival and quality of life, reducing overall healthcare costs for the National Health Service.
Area of Science:
- Health Economics
- Genetics
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) is a leading genetic cause of mortality in young children.
- Early detection via newborn screening enables presymptomatic diagnosis and treatment.
- Increasing implementation of SMA newborn screening in Italy due to available treatments.
Purpose of the Study:
- To evaluate the cost-effectiveness of universal newborn screening for SMA in Italy.
- Compare newborn screening with no screening and symptomatic diagnosis.
- Assess the economic impact from the National Health Service perspective.
Main Methods:
- A decision-analytic model evaluated 400,000 newborns.
- Compared newborn screening with early treatment versus no screening.
- Utilized clinical trial data for transition probabilities and literature for long-term extrapolation.
- Incorporated official Italian healthcare costs and applied a lifetime time horizon with 3% discount rate.
Main Results:
- Newborn screening yielded 324 incremental life-years and 390 incremental quality-adjusted life-years.
- Screening resulted in cost savings of €1,513,375 over a lifetime.
- Newborn screening was found to be both more effective and less costly than no screening.
Conclusions:
- Universal newborn screening for SMA is a cost-effective strategy in Italy.
- The findings support the implementation of newborn screening from the Italian National Health Service perspective.
- Newborn screening demonstrates a high probability of being cost-effective.
Abstract:
BACKGROUND AND OBJECTIVE: Untreated spinal muscular atrophy (SMA) is the leading genetic cause of death in children younger than 2 years of age. Early detection through newborn screening allows for presymptomatic diagnosis and treatment of SMA. With effective treatments available and reimbursed by the National Health Service, many regions in Italy are implementing newborn screening for SMA. We evaluated the cost effectiveness of universal newborn screening for SMA in Italy.
Methods:
A decision-analytic model assessed the cost effectiveness of newborn screening from the National Health Service perspective in 400,000 newborns. Newborn screening enabling early identification and presymptomatic treatment of SMA was compared with no newborn screening, symptomatic diagnosis, and treatment. Transition probabilities between health states were estimated from clinical trial data. Higher-functioning health states were associated with increased survival, higher utility values, and lower costs. Long-term survival and utilities were extrapolated from scientific literature. Health care costs were collected from official Italian sources. A lifetime time horizon was applied, and costs and outcomes were discounted at an annual rate of 3%. Deterministic and probabilistic sensitivity analyses were conducted.
Results:
Newborn screening followed by presymptomatic treatment yielded 324 incremental life-years, 390 incremental quality-adjusted life-years, and reduced costs by €1,513,375 over a lifetime time horizon compared with no newborn screening. Thus, newborn screening was less costly and more effective than no newborn screening. Newborn screening has a 100% probability of being cost effective, assuming a willingness-to-pay threshold of > €40,000.
Conclusions:
Newborn screening followed by presymptomatic SMA treatment is cost effective from the Italian National Health Service perspective.
