A cost-benefit analysis on tandem mass spectrometry of inherited metabolic diseases in Korea.
- Author:
Hyoung Ock RYU
1
;
Dong Hwan LEE
;
Tae Youn CHOI
;
Hye Ran YOON
Author Information
1. Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea. ldh@hosp.sch.ac.kr
- Publication Type:Original Article
- Keywords:
Tandem mass spectrometry;
Screening test;
Cost-benefit analysis;
Inherited metabolic diseases
- MeSH:
Infant, Newborn;
Humans
- From:Journal of Genetic Medicine
2007;4(1):53-63
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Tandem mass spectrometry (MS/MS) is effective screening test for inherited metabolic diseases. In this study, we estimate potential costs and benefits of using tandem mass spectrometry (MS/MS) to screen newborns for inherited metabolic diseases (phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency) in Korea. METHODS: From April 2001 to March 2004, 79,179 newborns were screened for amino acid disorders, organic acid disorders, and fatty acid oxidative disorders. Twenty-eight newborns were diagnosed with one of the metabolic disorder and the collective estimated prevalence amounted to 1 in 2,800 with a sensitivity of 97.67%, a specificity of 99.28%, a recall rate of 0.05%, and a positive preditive value of 6.38%. We calculated and compared the total costs in case when neonatal screening on phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, and when not. RESULTS: If the neonatal screening on phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, total benefits far exceed costs at a ratio of 1.40:1. CONCLUSION: Although, this study only concerns the monetary aspects of the neonatal screening, tandem mass spcetrometry for neonatal screening is cost-effective compared with not screening. The study appears to support the introduction of tandem mass spectrometry into a Korea neonatal screening programme for inherited metabolic diseases.
