Medium Chain Acyl~CoA Dehydrogenase Deficiency (MCADD) is a rare metabolic disorder that can be treated, if diagnosed early, to avoid death and irreversible neurological damage. Newborn screening for MCADD using MS/MS technology yields high specificity and sensitivity. However, it is not consistently practiced across Canada. This study examined its cost effectiveness from the perspective of a Canadian provincial ministry of health.

We used a decision analytic model to compare MCADD screening with no screening. The model reflected the causal pathways and health consequences patients would experience, projecting associated lifetime costs and health outcomes. Across provinces, we assumed that model inputs remained the same except that per screening test cost and birth rate would vary. The data were obtained from specific health care providers and available literature.

Given an MS/MS system costing C$200 000, with a capacity of 500-600 samples per day and its lifespan of 10 years, the cost per screening test varied across provinces from C$2 to C$565. Depending on the provincial setting, the lifetime incremental cost of screening versus no screening for one birth cohort ranged from C$0.16 million to C$0.26 million while the incremental quality-adjusted life years ranged from 0.51 to 86.14. As a result, the incremental cost effectiveness ratio varied across provinces from C$3,026 to C$840,846 per QALY gained.

Subject to a number of assumptions in our analysis, in Canada, MCADD screening using MS/MS is likely to be more cost effective for provinces with larger numbers of births. The cost effectiveness of MCADD screening is highly sensitive to birth rate because it translates into the degree of local MS/MS utilization and affects the cost per screening test significantly. This implies provinces with low birth rates should consider sharing MS/MS systems with neighbouring provinces since the clinical effectiveness of MS/MS is not compromised due to distances in sample delivery. This policy could result in more efficient utilization of this technology within health care systems across Canada.