Purpose: Many states have recently expanded or are considering the expansion of newborn screening programs for metabolic disorders. While early diagnosis of certain conditions can lead to improved treatment and health outcomes, mass screening could also result in a significant number of false-positive test results. This study evaluates the cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) incorporating preferences for false positive newborn screens and recommended dietary treatment.

Methods: A computer simulation model was developed to predict costs and effects of expanded newborn screening compared to clinical identification of MCADD. The target population was a hypothetical cohort of 100,000 newborns in the US. Probabilities and costs were derived from a long-term follow-up study of newborn screening compared to clinical identification, published data, and expert opinion. Quality adjustments (time trade-off amounts) for the experience of receiving a false positive newborn screening result or the experience of having child with a metabolic disorder were based on data from a telephone survey of a community sample of parents (n=117). The analysis used a lifetime time horizon and societal perspective. The primary outcome was the incremental cost-effectiveness ratio. The base case included quality adjustments for hospitalizations and mental retardation due to MCADD. Scenario analyses incorporated quality adjustments for false positive screens and treatment. Probabilistic sensitivity analysis was conducted.

Results: Using base case assumptions, the cost-effectiveness of newborn screening for MCADD was $38,000 per quality-adjusted life year (QALY) gained (mean). The mean cost-effectiveness ratio increased to $39,000/QALY when the loss in quality of life associated with false positive test results was incorporated and to $122,000/QALY when the disutility of lifelong dietary recommendations for treating MCADD were incorporated. Results were not sensitive to the false positive rate (i.e., specificity) for the newborn screening test.

Conclusions: Expanded newborn screening for MCADD is cost-effective compared to other children's health interventions even after allowing for disutility that some parents may associate with a false positive test result. The disutility of the treatment for MCADD, however, may offset gains in quality-adjusted life years from newborn screening. Consideration of new disorders for expanded newborn screening panels should include the potential reduction in quality of life associated with treatments and greater attention should be paid to the burden of treatment on families.