Pandor Abdullah, Eastham Joe, Chilcott James, Paisley Suzy, Beverley Catherine
School of Health and Related Research, University of Sheffield, UK.
Int J Technol Assess Health Care. 2006 Summer;22(3):321-6. doi: 10.1017/s026646230605121x.
The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
A systematic review of clinical efficacy evidence and cost-effectiveness modeling of screening in newborn infants within a UK National Health Service perspective was performed. Marginal costs, life-years gained, and cost-effectiveness acceptability curves are presented.
Substituting the use of tandem MS for existing technologies for the screening of PKU increases costs with no increase in health outcomes. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS, with an operational range of 50,000 to 60,000 specimens per system per year, would result in a mean incremental cost of -pound 17,298 (-pound 129,174, pound 66,434) for each cohort of 100,000 neonates screened. This cost saving is associated with a mean incremental gain of 57.3 (28.0, 91.4) life-years.
Cost-effectiveness analysis using economic modeling indicates that substituting the use of tandem MS for existing technologies for the screening of PKU alone is not economically justified. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS would be economically attractive.
本研究旨在评估采用串联质谱法（串联MS）对新生儿进行苯丙酮尿症（PKU）和中链酰基辅酶A脱氢酶（MCAD）缺乏症筛查的成本效益。
从英国国家医疗服务体系的角度，对新生儿筛查的临床疗效证据和成本效益模型进行了系统评价。给出了边际成本、获得的生命年数以及成本效益可接受性曲线。
用串联MS替代现有技术进行PKU筛查会增加成本，且健康结果无改善。然而，将MCAD缺乏症筛查作为使用串联MS的PKU新生儿筛查项目的一部分，每个系统每年检测标本量在50000至60000份之间，那么每筛查100000名新生儿，平均增量成本为 - 17298英镑（- 129174英镑，66434英镑）。这种成本节约与平均57.3（28.0，91.4）个生命年的增量收益相关。
使用经济模型进行的成本效益分析表明，仅用串联MS替代现有技术进行PKU筛查在经济上不合理。然而，将MCAD缺乏症筛查作为使用串联MS的PKU新生儿筛查项目的一部分在经济上具有吸引力。
