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Cost-Effectiveness of Universal Newborn Screening and Disease-Modifying Therapies for Spinal Muscular Atrophy in
Wan-Ling Chiang1, Yuh-Jyh Jong2, Lisa A Prosser3
1Department of Clinical Pharmacy, School of Pharmacy, Kaohsiung Medical University, Kaohsiung, Taiwan.
Objectives:
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder and an important genetic cause of infant mortality. Universal newborn screening (NBS) enables presymptomatic disease-modifying therapy (DMT) but increases upfront costs. This study evaluated the cost-effectiveness of universal SMA NBS in Taiwan.
Methods:
This study built a state-transition simulation model for a hypothetical SMA birth cohort using local epidemiology and costs and published clinical inputs. Strategies were as follows: (1) NBS with presymptomatic DMTs and (2) clinical identification (CI) with symptomatic DMTs. DMTs included nusinersen, onasemnogene abeparvovec, and risdiplam (reimbursed by Taiwan's National Health Insurance). Incremental costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios (ICERs) were estimated over 10-year and lifetime (90-year) horizons from Taiwan's payer and societal perspectives. The willingness-to-pay (WTP) threshold was 3 times Taiwan's 2022 GDP per capita (New Taiwan Dollar (NTD) 2 917 650/QALY). One-way, probabilistic sensitivity, and scenario analyses assessed uncertainty.
Results:
All ICERs were below WTP threshold. From the payer perspective, ICERs for NBS with presymptomatic DMT versus CI with symptomatic DMT were NTD 1 157 970 (USD 38 599) /QALY (10 years) and NTD 2 108 499 (USD 70 283)/QALY (lifetime). From the societal perspective, ICERs were NTD 261 789 (USD 8726)/QALY (10 years) and NTD 1 494 002 (USD 49 800)/QALY (lifetime). Results were most sensitive to DMT costs (particularly nusinersen and risdiplam) and health-state utility values.
Conclusions:
Universal SMA NBS with presymptomatic DMT is likely cost-effective in Taiwan from both payer and societal perspectives under the WTP threshold, supporting earlier treatment to slow progression and improve quality of life.
