Abstract
Generalizing about the cost-effectiveness of newborn screening (NBS) is difficult due to the heterogeneity of disorders included in NBS panels, along with data limitations. Furthermore, it is unclear to what extent evidence about cost-effectiveness should influence decisions to screen for specific disorders. Screening newborns for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can serve as a useful test case, since there is no global consensus on whether CAH should be part of NBS panels. Published and unpublished cost-effectiveness analyses of CAH screening have yielded mixed findings, largely due to differences in methods and data sources for estimating health outcomes and associated costs of early versus late diagnosis as well as between-country differences. Understanding these methodological challenges can help inform future analyses and could also help interested policymakers interpret the results of economic evaluations.
Highlights
Newborn screening (NBS) has been shown to save lives and healthcare costs [1]
Some jurisdictions use economic assessments to inform decisions on newborn screening (NBS) expansion [3], policy decisions often do not require a demonstration of cost-effectiveness, costs may be considered in some way [4,5,6,7]
In higher-income countries, increased accuracy of NBS practices, including the use of cutoffs adjusted for infant characteristics, the timing of specimen collection, and multi-tier algorithms, can eliminate most false-positive screening results and may improve cost-effectiveness
Summary
Newborn screening (NBS) has been shown to save lives and healthcare costs [1]. The balance between the costs of screening all newborns, few of whom are affected, and the economic and health benefits, is a concern for some policymakers in deciding whether to add conditions to an existing screening program [2]. The US government does not consider cost-effectiveness when deciding which disorders to recommend for addition to NBS panels [8,9]. Evidence on cost-effectiveness may still influence policy decisions. The purpose of this article is to review economic evaluations of NBS for one disorder, congenital adrenal hyperplasia (CAH), to dig deeply into the factors that can affect calculations of cost-effectiveness in NBS
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