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European Journal of Pediatrics

, Volume 178, Issue 5, pp 721–729 | Cite as

Cost-effectiveness of newborn screening for severe combined immunodeficiency

  • Catharina P. B. Van der PloegEmail author
  • Maartje Blom
  • Robbert G. M. Bredius
  • Mirjam van der Burg
  • Peter C. J. I. Schielen
  • Paul H. Verkerk
  • M. Elske Van den Akker-van Marle
Original Article

Abstract

Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment before infections occur, largely increases the chances of survival. As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the newborn screening program is relevant for decision making. Lifetime costs and effects of newborn screening for SCID were compared to a situation without screening in the Netherlands in a decision analysis model. Model parameters were based on literature and expert opinions. Sensitivity analyses were performed. Due to earlier detection, the number of deaths due to SCID per 100,000 children was assessed to decrease from 0.57 to 0.23 and a number of 11.7 quality adjusted life-years (QALYs) gained was expected. Total yearly healthcare costs, including costs of screening, diagnostics, and treatment, were €390,800 higher in a situation with screening compared to a situation without screening, resulting in a cost-utility ratio of €33,400 per QALY gained.

Conclusion: Newborn screening for SCID might be cost-effective. However, there is still a lot of uncertainty around the cost-effectiveness estimate. Pilot screening projects are warranted to obtain more accurate estimates for the European situation.

What is Known:

• Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at a young age.

• As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the newborn screening program is needed.

What is New:

• Newborn screening for SCID is expected to reduce mortality from 0.57 to 0.23 per 100,000 children at additional healthcare costs of €390,800. The cost-utility ratio is €33,400 per QALY gained.

• Due to large uncertainty around cost-effectiveness estimates, pilot screening projects are warranted for Europe.

Keywords

Newborn screening Severe combined immunodeficiency Cost-effectiveness analysis Decision analysis model 

Abbreviations

SCID

Severe combined immunodeficiency

HSCT

Hematopoietic stem cell transplantation

TREC

T cell receptor excision circle

QALY

Quality adjusted life-year

NBSSCID

Newborn screening for SCID

Ig

Immunoglobulin

GvHD

Graft versus host disease

IVIG

Intravenous immunoglobulin

Notes

Acknowledgements

The decision analysis model used to calculate cost-effectiveness of NBSSCID in this study is an extension of a model kindly provided by Scott Grosse and Yao Ding. We thank Frank Staal, Arjan Lankester, Georget van den Burg, Mandy Jansen, Taco Kuijpers, Joris van Montfrans, and Wendy Rodenburg for their contribution as experts to this study.

Authors’ contributions

Kitty Van der Ploeg contributed to the study design, conducted the literature search and interpretation into model parameters, contributed to the model development and analyses and interpretation of the results, and prepared and reviewed the manuscript.

Maartje Blom contributed to the literature search, data collection and interpretation, and critically reviewed the manuscript.

Robbert Bredius contributed to the study design, data collection and interpretation, and critically reviewed the manuscript.

Mirjam van der Burg and Peter Schielen contributed to data collection and data interpretation, and reviewed the manuscript.

Paul Verkerk contributed to the study design, interpretation of the study results, and critically reviewed the manuscript.

Elske Van den Akker-van Marle contributed to the study design and literature search, developed the decision model, performed model analyses and interpretation of the results, and prepared and reviewed the manuscript.

All authors have approved the final version to be published.

Funding

Funding for this project was obtained from the National Institute for Public Health and the Environment in the Netherlands (Centre for Population Screening) in order to prepare implementation of NBSSCID in the Netherlands.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Catharina P. B. Van der Ploeg
    • 1
    Email author
  • Maartje Blom
    • 2
  • Robbert G. M. Bredius
    • 2
  • Mirjam van der Burg
    • 2
  • Peter C. J. I. Schielen
    • 3
  • Paul H. Verkerk
    • 1
  • M. Elske Van den Akker-van Marle
    • 4
  1. 1.TNO - Child HealthLeidenThe Netherlands
  2. 2.Department of PediatricsLeiden University Medical CenterLeidenThe Netherlands
  3. 3.RIVM, Department Biologicals, Screening and InnovationBilthovenThe Netherlands
  4. 4.Department of Medical Decision MakingLeiden University Medical CenterLeidenThe Netherlands

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