title: Expanded newborn screening for genetic and metabolic disorders: modeling costs and outcomes.
abstract: Newborn screening for genetic and metabolic disorders is a state-based public health program in the United States, for the elimination and/or reduction of associated mortality, morbidity, and disabilities. As new technologies for newborn screening and new interventions for treatment are realized, it will be increasingly important for health leaders and policymakers to have data to inform their decisions regarding expanding newborn testing. The entire costs of a screening program, including not only instrumentation but also labor and time costs; initial, repeat, and confirmatory testing; screening sensitivity and specificity; and short and long-term followup, should be considered in decisions regarding expansion of screening programs. The decision model cited in this study can serve as a tool in exploring alternatives for critical decisions regarding the addition of new disorders to existing newborn screening panels. The evaluation of genetic disorders in this study can be used as a prototype of an approach to evaluating screening for any newborn genetic/metabolic disorder.
authors.affiliation: Agency for Healthcare Research and Quality, USA.
authors.forename: Heddy Bishop
authors.initials: HB
authors.lastname: Hubbard
mesh_terms: D003362:Cost-Benefit Analysis; D003661:Decision Support Techniques; D003663:Decision Trees; D030342:Genetic Diseases, Inborn / Q000517:prevention & control*; D006801:Humans; D007231:Infant, Newborn; D008396:Maryland; D008661:Metabolism, Inborn Errors / Q000517:prevention & control*; D015997:Neonatal Screening / Q000191:economics; D012680:Sensitivity and Specificity; D013673:Technology Assessment, Biomedical / Q000191:economics