Key result
Newborn screening for SMA dominates no screening, yielding ~736 quality-adjusted life-years and reducing total costs.
Why the study?
Early detection and treatment of spinal muscular atrophy before symptom onset may substantially improve outcomes, but the cost-utility of newborn screening in Japan had not been assessed.
Does newborn screening for SMA improve quality-adjusted life-years and reduce costs compared to no screening in newborns in Japan?
Does newborn screening for SMA improve quality-adjusted life-years and reduce costs compared to no screening in newborns in Japan?
Newborn screening for spinal muscular atrophy in Japan is projected to be a dominant strategy, improving quality-adjusted life-years while reducing overall healthcare costs.
Supports modeling of newborn SMA screening as dominant; leaves open prospective real-world validation before practice change.
AIMS: Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by progressive muscle weakness, atrophy, respiratory failure, and in severe cases, infantile death. Early detection and treatment before symptom onset may substantially improve outcomes, allowing patients to achieve age-appropriate motor milestones and longer survival. We assessed the cost-utility of newborn screening (NBS) for SMA in Japan. MATERIALS AND METHODS: A cost-utility model (decision tree and Markov model) compared lifetime health effects and costs between "NBS" for SMA (presymptomatic treatment) or "no NBS" (treatment initiated at symptom onset). Model inputs were sourced from literature, local data, and expert opinion. Sensitivity and scenario analyses were conducted to assess model robustness and data validity. RESULTS: Based on the 1:10,000 SMA incidence, it was estimated that 43 newborns/year would have SMA, and a total of 39 patients with SMA would initiate presymptomatic treatment after NBS. An estimated 736 quality-adjusted life-years were gained per annual birth cohort with NBS. NBS for SMA was dominant compared with no NBS (i.e. less costly and more effective), with ¥8,856,960,096 reduced total costs with NBS versus no NBS (base-case). Sensitivity and scenario analyses supported cost effectiveness of NBS for SMA versus no NBS. A greater percentage of patients was estimated to enjoy longer survival and be without permanent assisted ventilation with NBS versus no NBS. LIMITATIONS: Real-world observations may differ from single-arm clinical trial outcomes. It was assumed that patients with SMA identified via NBS were asymptomatic and would receive treatment prior to symptoms. Best supportive care was not considered, and Japan-specific variations in gene replacement therapy protocol were not fully reflected. CONCLUSION: NBS for SMA allows for early identification of patients with SMA and treatment initiation before symptom onset, improving health outcomes and reducing total costs than without NBS.
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Hata et al. (2024) studied Spinal muscular atrophy (SMA). Newborn screening (NBS) for SMA vs. No NBS was evaluated on Lifetime health effects and costs. Newborn screening for spinal muscular atrophy was dominant compared with no screening, yielding an estimated 736 quality-adjusted life-years gained and reducing total costs by ¥8,856,960,096.
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