An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

PLoS One. 2015 Aug 10;10(8):e0134782. doi: 10.1371/journal.pone.0134782. eCollection 2015.

Abstract

Background: Inborn errors of metabolism (IEM) are a rare group of genetic diseases which can lead to several serious long-term complications in newborns. In order to address these issues as early as possible, a process called tandem mass spectrometry (MS/MS) can be used as it allows for rapid and simultaneous detection of the diseases. This analysis was performed to determine whether newborn screening by MS/MS is cost-effective in Thailand.

Method: A cost-utility analysis comprising a decision-tree and Markov model was used to estimate the cost in Thai baht (THB) and health outcomes in life-years (LYs) and quality-adjusted life year (QALYs) presented as an incremental cost-effectiveness ratio (ICER). The results were also adjusted to international dollars (I$) using purchasing power parities (PPP) (1 I$ = 17.79 THB for the year 2013). The comparisons were between 1) an expanded neonatal screening programme using MS/MS screening for six prioritised diseases: phenylketonuria (PKU); isovaleric acidemia (IVA); methylmalonic acidemia (MMA); propionic acidemia (PA); maple syrup urine disease (MSUD); and multiple carboxylase deficiency (MCD); and 2) the current practice that is existing PKU screening. A comparison of the outcome and cost of treatment before and after clinical presentations were also analysed to illustrate the potential benefit of early treatment for affected children. A budget impact analysis was conducted to illustrate the cost of implementing the programme for 10 years.

Results: The ICER of neonatal screening using MS/MS amounted to 1,043,331 THB per QALY gained (58,647 I$ per QALY gained). The potential benefits of early detection compared with late detection yielded significant results for PKU, IVA, MSUD, and MCD patients. The budget impact analysis indicated that the implementation cost of the programme was expected at approximately 2,700 million THB (152 million I$) over 10 years.

Conclusion: At the current ceiling threshold, neonatal screening using MS/MS in the Thai context is not cost-effective. However, the treatment of patients who were detected early for PKU, IVA, MSUD, and MCD, are considered favourable. The budget impact analysis suggests that the implementation of the programme will incur considerable expenses under limited resources. A long-term epidemiological study on the incidence of IEM in Thailand is strongly recommended to ascertain the magnitude of problem.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / economics
  • Cost-Benefit Analysis
  • Decision Trees
  • Humans
  • Infant, Newborn
  • Isovaleryl-CoA Dehydrogenase / deficiency
  • Isovaleryl-CoA Dehydrogenase / economics
  • Maple Syrup Urine Disease / diagnosis
  • Maple Syrup Urine Disease / economics
  • Markov Chains
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / economics*
  • Models, Economic
  • Multiple Carboxylase Deficiency / diagnosis
  • Multiple Carboxylase Deficiency / economics
  • Multivariate Analysis
  • Neonatal Screening / economics*
  • Phenylketonurias / diagnosis
  • Phenylketonurias / economics
  • Probability
  • Propionic Acidemia / diagnosis
  • Propionic Acidemia / economics
  • Quality-Adjusted Life Years
  • Reproducibility of Results
  • Tandem Mass Spectrometry / economics*
  • Thailand

Substances

  • Isovaleryl-CoA Dehydrogenase

Supplementary concepts

  • Acidemia, isovaleric
  • Methylmalonic acidemia

Grants and funding

The study was funded by National Health Security Office (NHSO) of Thailand. The Health Intervention and Technology Assessment Program (HITAP) is funded by the Thailand Research Fund under the Senior Research Scholar on Health Technology Assessment (RTA5580010), the National Health Security Office, the Thai Health Promotion Foundation, the Health System Research Institute, and the Bureau of Health Policy and Strategy, Ministry of Public Health. HITAP international activities, including academic journal publications, are also supported by the Thaihealth-Global Link Initiative Project (TGLIP). DW is a recipient of the Research Career Development Awards from the Faculty of Medicine Ramathibodi Hospital, and grant from Mahidol University (75/2557). VS is supported by the Thailand Research Fund (RTA5680003). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The findings, interpretations, and conclusions expressed in this paper do not necessarily reflect the views of the funding agencies.