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Cost-effectiveness of newborn screening for severe combined immunodeficiency

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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.

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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

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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.

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.

Author information

Authors and Affiliations

  1. TNO - Child Health, PO box 3005, 2301 DA, Leiden, The Netherlands

    Catharina P. B. Van der Ploeg & Paul H. Verkerk

  2. Department of Pediatrics, Leiden University Medical Center, PO box 9600, 2300 RC, Leiden, The Netherlands

    Maartje Blom, Robbert G. M. Bredius & Mirjam van der Burg

  3. RIVM, Department Biologicals, Screening and Innovation, PO box 1, 3720 BA, Bilthoven, The Netherlands

    Peter C. J. I. Schielen

  4. Department of Medical Decision Making, Leiden University Medical Center, PO box 9600, 2300 RC, Leiden, The Netherlands

    M. Elske Van den Akker-van Marle

Authors
  1. Catharina P. B. Van der Ploeg
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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.

Corresponding author

Correspondence to Catharina P. B. Van der Ploeg.

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The authors declare that they have no conflict of interest.

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

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Communicated by Mario Bianchetti

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Van der Ploeg, C.P.B., Blom, M., Bredius, R.G.M. et al. Cost-effectiveness of newborn screening for severe combined immunodeficiency. Eur J Pediatr 178, 721–729 (2019). https://doi.org/10.1007/s00431-019-03346-3

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  • DOI: https://doi.org/10.1007/s00431-019-03346-3

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