Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review

Kim Elsink; Joris M van Montfrans; Mariëlle E van Gijn; Maartje Blom; P Martin van Hagen; T W Kuijpers; Geert W J Frederix

doi:10.1016/j.clim.2020.108359

Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review

Clin Immunol. 2020 Apr:213:108359. doi: 10.1016/j.clim.2020.108359. Epub 2020 Feb 5.

Authors

Kim Elsink¹, Joris M van Montfrans¹, Mariëlle E van Gijn², Maartje Blom³, P Martin van Hagen⁴, T W Kuijpers⁵, Geert W J Frederix⁶

Affiliations

¹ Department of Pediatric Immunology and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.
² Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
³ Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
⁴ Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
⁵ Department of Internal Medicine/Immunology, Erasmus University Medical Centre, Rotterdam, The Netherlands.
⁶ Julius Center for Health Sciences and Primary Care, University Medical Centre Utrecht, Utrecht, The Netherlands. Electronic address: G.W.J.Frederix@umcutrecht.nl.

PMID: 32035178
DOI: 10.1016/j.clim.2020.108359

Abstract

Background: New, innovative, costly diagnostic methods for patients with primary immunodeficiencies (PID) demand upfront insight into their potential cost savings and added value for individual patients. As such, high quality, comparable economic evaluations are of utmost importance to enable informed decisions. The objective of this review was therefore to create an extensive overview of current costing studies and potential cost savings of early diagnosis in primary immunodeficiency disease.

Methods: A literature search in PubMed was conducted and studies involving any form of costing study in the field of PIDs were included. Of the included studies, study characteristics, cost parameters and benefits of early diagnosis were extracted and outlined in separate tables.

Results: Twenty two studies met the inclusion criteria and were included in the review. The papers were categorized according to their subject: neonatal screening for severe combined immunodeficiency (SCID), Ig replacement therapies and studies reporting on costs of general or specific PIDs. Within and between these groups variability in reported costing characteristics was observed. In studies that reported cost savings pre- and post-diagnosis, cost savings ranged from 6500 to 108,463 USD of total costs per patient.

Conclusion: This literature review shows that, regardless of what aspect of PIDs has been studied, in nearly all cases early diagnosis reduces health care consumption and leads to better health outcomes for patients with PIDs. We found considerable variability in costing characteristics of economic evaluations of PID patients, which hampers the comparability of outcomes. More effort is needed to create uniformity and define cost parameters in economic evaluations in the field of PIDs, facilitating further prospective research to extensively assess the benefits of early diagnosis.

Keywords: Cost-effectiveness study; Economic evaluation; Ig replacement therapy; Newborn screening; Primary immunodeficiency; Severe combined immunodeficiency.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Cost-Benefit Analysis
Early Diagnosis*
Humans
Primary Immunodeficiency Diseases / diagnosis*
Primary Immunodeficiency Diseases / economics*