RESUMEN
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.
Asunto(s)
Técnicas de Apoyo para la Decisión , Enfermedades Genéticas Congénitas/prevención & control , Errores Innatos del Metabolismo/prevención & control , Tamizaje Neonatal , Evaluación de la Tecnología Biomédica , Análisis Costo-Beneficio , Árboles de Decisión , Humanos , Recién Nacido , Maryland , Tamizaje Neonatal/economía , Sensibilidad y Especificidad , Evaluación de la Tecnología Biomédica/economíaRESUMEN
Newborns in every state are screened for genetic/metabolic disorders, but there is no uniform national screening program. Recently, a federal panel concluded that the number of disorders screened should be increased from 9 to Twenty-nine. In order for state leaders, and for the clinicians who inform them, to make sound decisions about expanding newborn screening programs, they need to be aware of the costs and outcomes of the entire screening program. This paper examines newborn screening from several perspectives: status of state programs, screening technology, and financing. In addition, various types of economic evaluations are defined, and a number of economic studies are explored.