Health Policy 89 (2009) 252–260 Contents lists available at ScienceDirect Health Policy journal homepage: www.elsevier.com/locate/healthpol Review International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions Richard Norman a,* , Marion Haas a , Bridget Wilcken b,c a Centre for Health Economics Research and Evaluation, University of Technology, Sydney, Australia b Children’s Hospital at Westmead, Sydney, Australia c The University of Sydney, Sydney, Australia article info Keywords: Tandem mass spectrometry Cost-effectiveness Review Health economics Metabolism abstract Objectives: To examine and evaluate the economic evidence regarding the use of tandem mass spectrometry (MS/MS) for the detection of rare metabolic conditions in neonates, and then to consider the transferability of these national-level results to other decision-making contexts. Methods: A systematic literature review was undertaken, identifying papers published between January 1997 and March 2008. Thirteen unique cost-effectiveness evaluations were identified and appraised for comparability and transferability of results across settings. Results: The primary outcome measure was usually life years gained (LYG) or quality- adjusted life years gained (QALY). The incremental cost-effectiveness ratios (ICER) presented were generally supportive of MS/MS, but showed considerable variation. Differences in assumptions made regarding prevalence and prognosis played a significant role in this variation. Conclusions: Differences in study structure, the approach to costing, the choice of interven- tion, control and outcome measure, and the limit of studies to developed countries makes international generalisation of the cost-effectiveness evidence difficult. The importance of assumptions regarding disease progression and subsequent health care utilisation suggests that further work needs to consider the importance of longer-term follow-up. © 2008 Elsevier Ireland Ltd. All rights reserved. Contents 1. Introduction ........................................................................................................................ 253 2. Materials and methods ............................................................................................................ 253 3. Results .............................................................................................................................. 253 3.1. Sensitivity/specificity ....................................................................................................... 254 3.2. Mortality .................................................................................................................... 254 3.3. Morbidity (parental and infant) ............................................................................................ 254 Abbreviations: MS/MS, Tandem mass spectrometry; CAH, Congenital adrenal hyperplasia; CH, Congenital hypothyroidism; CIT, Citrullinaemia; CPTII, Carnitine palmitoyltransferase type II deficiency; GAI/II, Glutaric academia, type I/II; GAL, Galactosemia; HCY, Homocystinuria; IVA, Isovaleric acidemia; LCHADD, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; MCADD, Medium chain acyl-CoA dehydrogenase deficiency; MMA, Methylmalonic acidemia; MSUD, Maple syrup; PKU, Phenylketonuria; PPA, Propionic acidemia; CI, Confidence interval; ICER, Incremental cost-effectiveness ratio; LYG, Life years gained; QALY, Quality-adjusted life year. * Corresponding author at: PO Box 123, Broadway, Sydney 2007, Australia. Tel.: +61 2 95144732; fax: +61 2 95144730. E-mail address: Richard.norman@chere.uts.edu.au (R. Norman). 0168-8510/$ – see front matter © 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.healthpol.2008.08.003