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Healthcare 2015, 3(4), 1133-1157; doi:10.3390/healthcare3041133

Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Academic Editors: Cecelia A. Bellcross and Debra Duquette
Received: 9 September 2015 / Accepted: 5 November 2015 / Published: 11 November 2015
(This article belongs to the Special Issue Implementation of Public Health Genomics)
View Full-Text   |   Download PDF [156 KB, uploaded 11 November 2015]

Abstract

Decision makers sometimes request information on the cost savings, cost-effectiveness, or cost-benefit of public health programs. In practice, quantifying the health and economic benefits of population-level screening programs such as newborn screening (NBS) is challenging. It requires that one specify the frequencies of health outcomes and events, such as hospitalizations, for a cohort of children with a given condition under two different scenarios—with or without NBS. Such analyses also assume that everything else, including treatments, is the same between groups. Lack of comparable data for representative screened and unscreened cohorts that are exposed to the same treatments following diagnosis can result in either under- or over-statement of differences. Accordingly, the benefits of early detection may be understated or overstated. This paper illustrates these common problems through a review of past economic evaluations of screening for two historically significant conditions, phenylketonuria and cystic fibrosis. In both examples qualitative judgments about the value of prompt identification and early treatment to an affected child were more influential than specific numerical estimates of lives or costs saved. View Full-Text
Keywords: health economics; cost-benefit; cost-effectiveness; genetic testing; neonatal screening; cystic fibrosis; phenylketonuria health economics; cost-benefit; cost-effectiveness; genetic testing; neonatal screening; cystic fibrosis; phenylketonuria
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Grosse, S.D. Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis. Healthcare 2015, 3, 1133-1157.

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