Cost-effectiveness analysis of tandem mass spectrometry compared to fluorescence analysis for screening neonatal genetic metabolic diseases

比较串联质谱法和荧光分析法在新生儿遗传代谢疾病筛查中的成本效益分析

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Abstract

OBJECTIVE: To compare the cost-effectiveness of tandem mass spectrometry (MS/MS) screening for neonatal inherited metabolic diseases (IMDs) with fluorescence analysis (FA) screening for neonatal inherited metabolic diseases (IMDs) and provide evidence for promoting MS/MS in China. METHODS: An Excel-based decision tree model was constructed to evaluate the cost-effectiveness of MS/MS versus FA screening from a societal perspective. The model simulated the screening pathway, prevention, and treatment of IMDs, adjusted to 2023 price levels. Health outcomes were measured in quality-adjusted life years (QALYs), with a 3% annual discount rate applied. The willingness-to-pay (WTP) threshold was set at one times the per-capita GDP of China in 2023. RESULTS: MS/MS screening was more costly (CNY 1,121,637; USD 158,423 vs. CNY 380,276; USD 53,711) but more effective (16.47 QALYs vs. 5.93 QALYs) than FA screening. The incremental cost-effectiveness ratio (ICER) was CNY 70,286 (USD 9,927) per QALY, below the WTP threshold. The benefit-cost ratio (BCR) was 1:3.94. CONCLUSION: While MS/MS screening incurs higher costs, it achieves significantly greater QALY gains and demonstrates favorable cost-effectiveness and economic benefits. MS/MS screening should be actively promoted for neonatal IMDs in China.

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