A primer on economic evaluations related to expansion of newborn screening for genetic and metabolic disorders

Abstract

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.