Cost-Effectiveness and Public Health Impact of Newborn Screening for Spinal Muscular Atrophy in France

Spinal muscular atrophy (SMA) was recently included in the French national newborn screening (NBS) program. The aim of this study was to assess the public health impact and cost-utility of SMA NBS in the French setting.

A cost-utility model combining a decision tree with a lifetime state transition model (six health states) was adapted from a previous model. The model simulated a cohort of 700,000 newborns annually, aligned with French birth statistics. Clinical inputs were derived from SMA trials. Cost and utility estimates reflected French healthcare system data and societal burden studies. Analyses were conducted from a societal perspective, with key outcomes including the incremental cost-utility ratio (ICUR), quality-adjusted life years (QALYs), and incremental net monetary benefit (INMB). Deterministic, probabilistic, and scenario analyses were performed.

With NBS, 66.5 patients are expected to be treated presymptomatically each year. At age 15 years, mortality is reduced to 2% in the NBS arm compared with 26% without screening; 94% of patients will retain the ability to sit or walk versus 38% without NBS. NBS is a dominant strategy versus no NBS, with lower costs (- 233.9 million [M] euros) and higher QALYs (+ 1586). The INMB was 265.6M € at a 20,000 €/QALY threshold. Results were robust across all sensitivity and scenario analyses.

Key limitations include uncertainty in long-term treatment effects, exclusion of SMA type 0 and 4 from the model, and limited data on long-term outcomes of presymptomatically treated patients.

NBS for SMA in France offers significant clinical and economic value, supporting its national implementation.