J Genet Med.  2008 Dec;5(2):111-118.

A Cost-Benefit Analysis of Neonatal Screening Tests for Maple Syrup Urine Disease, Homocystinuria, Galactosemia, and Congenital Adrenal Hyperplasia

• Park SY
• Kim DI
• Lee DH

Abstract

PURPOSE
Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that may result from these diseases. In this study, a cost-benefit analysis was performed on the neonatal screening of maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia in Korea.
MATERIALS AND METHODS
This study included 1,259,220 Korean newborns born between January 2005 to December 2007, who were screened for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia. We calculated and compared the total costs in cases where these four screening tests were implemented, and those where they were not.
RESULTS
There were no benefits to screening for maple syrup urine disease or homocystinuria due to their low prevalence for these two tests, the costs exceeded the benefits at benefit:cost ratios of 0.5:1 and 0.6:1, respectively. In contrast, benefits far exceed costs at a ratio of 4.1:1 for galactosemia and 2.9:1 for congenital adrenal hyperplasia. The average benefit:cost ratio for all four tests was 2.0:1.
CONCLUSION
Neonatal screening tests for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia are financially viable.

Keyword

Neonatal screening test; Cost-benefit; Efficacy

MeSH Terms

Acer
Adrenal Hyperplasia, Congenital
Cost-Benefit Analysis
Galactosemias
Homocystinuria
Humans
Infant, Newborn
Korea
Maple Syrup Urine Disease
Mass Screening
Metabolism, Inborn Errors
Neonatal Screening
Prevalence