Insinga Ralph P, Laessig Ronald H, Hoffman Gary L
Department of Population Health Sciences and the Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, 53726-2397, USA.
J Pediatr. 2002 Oct;141(4):524-31. doi: 10.1067/mpd.2002.128116.
To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organic acidemia disorders in the Wisconsin Newborn Screening Program.
An incremental cost-effectiveness analysis with a hypothetical cohort of 100,000 infants was performed. A threshold of $50,000/QALY (quality-adjusted life-year) was used to determine whether screening for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) alone is cost-effective or whether additional disorders would need to be incorporated into the analysis to arrive at a conclusion regarding the overall cost-effectiveness of MS/MS.
Under conservative assumptions, screening for MCAD alone yields an incremental cost-effectiveness ratio of $41,862/QALY. With the use of more realistic assumptions, screening becomes more cost-effective ($6008/QALY) and remains cost-effective so long as the incremental cost of screening remains under $13.05 per test. Adding the incremental costs of detecting the 13 other disorders on the screening panel still yields a result well within accepted norms for cost-effectiveness ($15,252/QALY).
In Wisconsin, MS/MS screening for MCAD alone appears to be cost-effective. Future analyses should examine the cost-effectiveness of alternative follow-up and treatment regimens for MCAD and other panel disorders.
在威斯康星州新生儿筛查项目中，评估串联质谱法（MS/MS）用于14种脂肪酸氧化和有机酸血症疾病新生儿筛查的成本效益。
对一个由100,000名婴儿组成的假设队列进行增量成本效益分析。采用每质量调整生命年（QALY）50,000美元的阈值来确定单独筛查中链酰基辅酶A脱氢酶缺乏症（MCAD）是否具有成本效益，或者是否需要将其他疾病纳入分析，以得出关于MS/MS总体成本效益的结论。
在保守假设下，单独筛查MCAD的增量成本效益比为每QALY 41,862美元。采用更现实的假设时，筛查变得更具成本效益（每QALY 6008美元），并且只要筛查的增量成本保持在每次检测13.05美元以下，就仍具有成本效益。加上检测筛查面板上其他13种疾病的增量成本，结果仍远在可接受的成本效益规范范围内（每QALY 15,252美元）。
在威斯康星州，仅对MCAD进行MS/MS筛查似乎具有成本效益。未来的分析应研究针对MCAD和其他筛查疾病的替代随访及治疗方案的成本效益。
