Background: Inborn errors of metabolism are a significant cause of morbidity and death among children. Inconsistencies in how individual states arrive at screening strategies, however, lead to marked variations in testing between states.
Objective: To determine the cost-effectiveness of each component test of a multitest newborn screening program, including screening for phenylketonuria, congenital adrenal hyperplasia, congenital hypothyroidism, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, and medium-chain acyl-CoA dehydrogenase deficiency.
Methods: A decision model was used, with cohort studies, government reports, secondary analyses, and other sources. Discounted costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios were measured.
Results: All except 2 screening tests dominated the "no-test" strategy. The 2 exceptions were screening for congenital adrenal hyperplasia, which cost slightly more than $20,000 per QALY gained, and screening for galactosemia, which cost $94,000 per QALY gained. The screening test with the lowest expected cost was tandem mass spectrometry. The results found in our base-case analysis were stable across variations in nearly all variables. In instances in which changes in risks, sequelae, costs, or utilities did affect our results, the variation from base-case estimates was quite large.
Conclusions: Newborn screening seems to be one of the rare health care interventions that is beneficial to patients and, in many cases, cost saving. Over the long term, funding comprehensive newborn screening programs is likely to save money for society.