Neuromuscular Reference Center, Department of Paediatrics, University Hospital Liège & University of Liège, Belgium.
Health Economics and Decision Science, School of Health and Related Research, University of Sheffield, Sheffield, UK.
Neuromuscul Disord. 2024 Jan;34:61-67. doi: 10.1016/j.nmd.2023.11.013. Epub 2023 Dec 2.
The objective of the study was to assess the cost-effectiveness of real-world spinal muscular atrophy newborn screening followed by treatment. We modeled the lifetime cost-effectiveness of the spinal muscular atrophy newborn screening followed by treatment (screening) compared to treatment without screening (no screening) from the Belgian healthcare perspective. Real-world data, including quality of life, costs, and motor development data, were collected on 12 patients identified by screening and 43 patients identified by their symptoms. "Screening" was associated with slightly higher healthcare costs (€ 6,858,061 vs. € 6,738,120) but more quality-adjusted life years (QALY) (40.95 vs. 20.34) compared to "no screening", leading to an incremental cost-effectiveness ratio of € 5,820 per QALY gained. "Screening" was dominant from a societal perspective (negative incremental costs: € -14,457; incremental QALY = 20.61), when incorporating the burden on caregivers (negative incremental costs = € -74,353; incremental QALY = 27.51), and when the treatment was chosen by the parents (negative incremental costs = € -2,596,748; incremental QALY = 20.61). Spinal muscular atrophy newborn screening coupled with early treatment is thus cost-effective compared with late treatment following clinical diagnosis and is dominant when societal perspective, caregiver burden, and treatment based on parental preference were considered.
本研究旨在评估基于真实世界数据的脊髓性肌萎缩症新生儿筛查及后续治疗的成本效益。我们从比利时医疗保健的角度，构建了基于真实世界数据的脊髓性肌萎缩症新生儿筛查及后续治疗（筛查）与不筛查（不筛查）的终生成本效益模型。我们收集了 12 名通过筛查发现的患者和 43 名通过症状发现的患者的生活质量、成本和运动发育数据。与“不筛查”相比，“筛查”的医疗保健费用略高（€6,858,061 对 €6,738,120），但获得的质量调整生命年（QALY）更多（40.95 对 20.34），增量成本效益比为每获得一个 QALY 增加€5,820。从社会角度看，“筛查”具有优势（负增量成本：€-14,457；增量 QALY=20.61），当纳入照顾者的负担（负增量成本=€-74,353；增量 QALY=27.51）和当治疗由父母选择时（负增量成本=€-2,596,748；增量 QALY=20.61）。因此，与临床诊断后进行晚期治疗相比，脊髓性肌萎缩症新生儿筛查联合早期治疗具有成本效益，当考虑社会视角、照顾者负担和基于父母偏好的治疗时，它具有优势。
