title: Cost-benefit analysis of hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency: for consideration of expanded newborn screening in Hong Kong.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Regional public hospitals in Hong Kong providing care for cases of inborn errors of metabolism.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China.
authors.forename: Hencher Han-Chih
authors.initials: HH
authors.lastname: Lee
authors.affiliation: Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China.
authors.forename: Chloe Miu
authors.initials: CM
authors.lastname: Mak
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China.
authors.forename: Grace Wing-Kit
authors.initials: GW
authors.lastname: Poon
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China.
authors.forename: Kar-Yin
authors.initials: KY
authors.lastname: Wong
authors.affiliation: Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China ching-wanlam@pathology.hku.hk.
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
mesh_terms: D003362:Cost-Benefit Analysis; D005260:Female; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000191:economics*; D010661:Phenylketonurias / Q000191:economics / Q000453:epidemiology* / Q000517:prevention & control; D019761:Phosphorus-Oxygen Lyases / Q000172:deficiency* / Q000191:economics
chemical_list: D019761:Phosphorus-Oxygen Lyases
keywords: Cost-benefit analysis; Cost-effective analysis; Expanded newborn screening; Hong Kong Chinese; Hyperphenylalaninemia; Inborn errors of metabolism; Phenylketonuria; Tandem mass spectrometry