Economics of tandem mass spectrometry screening of neonatal inherited disorders.
OBJECTIVE
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).


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Pandor
Abdullah
A
School of Health and Related Research, University of Sheffield, UK. a.pandor@sheffield.ac.uk
Eastham
Joe
J
Chilcott
James
J
Paisley
Suzy
S
Beverley
Catherine
C
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D003362:Cost-Benefit Analysis; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry; D015997:Neonatal Screening / Q000191:economics* / Q000295:instrumentation*; D010661:Phenylketonurias / Q000175:diagnosis*; D013673:Technology Assessment, Biomedical; D006113:United Kingdom
D042964:Acyl-CoA Dehydrogenase