Lee Hencher Han-Chih, Mak Chloe Miu, Poon Grace Wing-Kit, Wong Kar-Yin, Lam Ching-Wan
Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China.
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China.
J Med Screen. 2014 Jun;21(2):61-70. doi: 10.1177/0969141314533531. Epub 2014 May 6.
To evaluate the cost-benefit of implementing an expanded newborn screening programme for hyperphenylalaninemias due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency in Hong Kong.
Regional public hospitals in Hong Kong providing care for cases of inborn errors of metabolism.
Implementational and operational costs of a new expanded mass spectrometry-based newborn screening programme were estimated. Data on various medical expenditures for the mild and severe phenotypic subtypes were gathered from a case cohort diagnosed with PTPS deficiency from 2001 to 2009. Local incidence from a previously published study was used.
Implementation and operational costs of an expanded newborn screening programme in Hong Kong were estimated at HKD 10,473,848 (USD 1,342,801) annually. Assuming a birthrate of 50,000 per year and an incidence of 1 in 29,542 live births, the medical costs and adjusted loss of workforce per year would be HKD 20,773,207 (USD 2,663,232). Overall the annual savings from implementing the programme would be HKD 9,632,750 (USD 1,234,968).
Our estimates show that implementation of an expanded newborn screening programme in Hong Kong is cost-effective, with a significant annual saving for public expenditure.
评估在香港实施针对因6-丙酮酰四氢蝶呤合成酶（PTPS）缺乏所致高苯丙氨酸血症的扩大新生儿筛查项目的成本效益。
香港的区域公立医院为先天性代谢缺陷病例提供护理。
估算了一项新的基于质谱的扩大新生儿筛查项目的实施和运营成本。从2001年至2009年诊断为PTPS缺乏的病例队列中收集了轻度和重度表型亚型的各种医疗支出数据。使用了先前发表研究中的本地发病率。
香港扩大新生儿筛查项目的实施和运营成本估计为每年10,473,848港元（1,342,801美元）。假设每年出生率为50,000，活产发病率为1/29,542，则每年的医疗成本和劳动力调整损失将为20,773,207港元（2,663,232美元）。总体而言，实施该项目每年可节省9,632,750港元（1,234,968美元）。
我们的估计表明，在香港实施扩大新生儿筛查项目具有成本效益，每年可为公共支出节省大量资金。
