Projected costs, risks, and benefits of expanded newborn screening for MCADD

To evaluate the cost-effectiveness of newborn screening for medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) incorporating quality-of-life effects for false-positive newborn screens and recommended dietary treatment.

A computer simulation model was developed to predict costs and health outcomes for expanded newborn screening for MCADD compared with clinical identification. The modeled target population was a hypothetical cohort of 100 000 newborns in the United States. Probabilities, costs, and quality-of-life weights were derived from a long-term follow-up study of newborn screening compared with clinical identification, primary data collection, published data, and expert opinion. We used a lifetime time horizon and the societal perspective. The main outcome measure was the incremental cost-effectiveness ratio in dollars per quality-adjusted life-year (QALY) gained. Secondary outcomes included averted deaths and hospitalizations.

Using base-case assumptions, the cost-effectiveness of newborn screening for MCADD was $21 273 per QALY gained. The cost-effectiveness ratio increased to $21 278/QALY when the loss in quality of life associated with false-positive test results was incorporated and to $27 423/QALY when the quality of life associated with lifelong dietary recommendations for treating MCADD was incorporated. Results were sensitive to the false-positive rate for the newborn screening test and the cost of the initial screen.

Expanded newborn screening for MCADD is cost-effective compared with well-accepted pediatric health interventions. Losses in quality of life associated with dietary treatment for MCADD, however, may offset some of the gains in QALYs from newborn screening. Consideration of new disorders for expanded newborn screening panels should include the potential reduction in quality of life associated with treatments.