Mesh ： Acetyl-CoA C-Acyltransferase / deficiency Acyl-CoA Dehydrogenase / deficiency Cost-Benefit Analysis Cystic Fibrosis / diagnosis epidemiology genetics Early Diagnosis Evidence-Based Medicine False Positive Reactions Genetic Testing / organization & administration Health Planning Guidelines Health Policy / economics legislation & jurisprudence Health Services Needs and Demand Humans Infant, Newborn Mandatory Testing / economics legislation & jurisprudence Metabolism, Inborn Errors / diagnosis epidemiology genetics Neonatal Screening / adverse effects organization & administration Outcome Assessment, Health Care Parental Consent / legislation & jurisprudence Policy Making Public Health Practice / economics legislation & jurisprudence Sensitivity and Specificity State Health Plans / organization & administration United States / epidemiology

来  源：   DOI：10.1177/1527154407303498   PDF(Sci-hub)

Abstract：
In 2005, a federal advisory committee recommended that the number of disorders in state newborn screening programs be expanded from 9 to 29. In view of this recommendation, state leaders will need to make cogent decisions regarding the expanse of their state newborn screening programs. They must consider several factors, including the costs and outcomes of the screening program. The expense of the initial screening test can be misleading because it does not include the cost of the entire program (testing, tracking, notifying, retesting, confirmatory testing, and follow-up). Also, outcomes such as false positive findings can be costly to newborn screening programs, result in additional testing for infants, and lead to parental concern and worry. This article examines some of the policy issues related to newborn screening and specifically focuses on three disorders recommended for newborn screening, cystic fibrosis (CF), medium-chain acyl CoA dehydrogenase Deficiency (MCADD), and beta-ketothiolase (BKT).
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