Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

Abstract

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.

Design and 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.

Conclusion: Screening consumes more resources than no screening but attains better health outcomes.