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.


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*