Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
OBJECTIVE
To determine the clinical efficacy and cost-effectiveness of newborn screening for MCADD using tandem mass spectrometry (MS/MS) compared with clinical diagnosis within the Canadian context.


METHODS
A systematic review of the clinical and economic literature was performed. For primary economic analysis, a decision-tree model was built based on the available information, the impact of newborn screening on the health care and the relevant Canadian data.


RESULTS
Twenty-one clinical and two economic studies met the selection criteria. Mean incidence of MCADD was approximately 1:16,000. Clinical sensitivity and specificity were 100% and 99.99%, respectively. Screening significantly lowered morbidity and mortality. Both economic studies showed that screening for MCADD using MS/MS was cost-effective if willingness-to-pay was US 50,000 dollars. Our primary economic analysis showed that screening was cost-effective based on the cost-effective threshold of C 20,000 dollars per QALY.


CONCLUSIONS
Screening consumes more resources than no screening but attains better health outcomes.
Tran
Khai
K
HTA, Canadian Agency for Drugs and Technologies in Health, 600-865 Carling Avenue, Ottawa, ON, Canada K1S 5S8. khait@cadth.ca
Banerjee
Srabani
S
Li
Huimin
H
Noorani
Hussein Z
HZ
Mensinkai
Shaila
S
Dooley
Kent
K
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002170:Canada; D003362:Cost-Benefit Analysis; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening / Q000191:economics* / Q000379:methods*; D053719:Tandem Mass Spectrometry / Q000191:economics* / Q000379:methods*
D044944:Acyl-CoA Dehydrogenases