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Policy Issues Related to Expanded Newborn Screening: A Review of Three Genetic/Metabolic Disorders

American Urological Association

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).

Key Words: newborn screening • genetic and metabolic disorders • cystic fibrosis • MCADD • beta-ketothiolase • health policy

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