PP574 Cost-Effectiveness Of Newborn Screening Of Primary Immunodeficiency Diseases: A Systematic Review And Economic Evaluation

Abstract

Introduction

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of over 200 disorders with defects in the function and/or development of the immune system. Although early screening is imperative for improving therapeutic efficiency and preventing disease-associated morbidity, its widespread use has been limited, owing to the low incidence of PIDs. It is particularly important to evaluate the cost-effectiveness of PIDs screening for newborns. The aim of this study was to provide an overview of the existing cost-effectiveness evidence on newborn screening of PIDs and to provide reference for decision-makers in China and other developing countries.

Methods

We conducted a systematic review using three electronic databases (PubMed, CNKI, and CSPD) of cost and cost-effectiveness studies of PIDs screening published during 2000–2019. Two reviewers independently searched databases and screened titles, abstracts and full texts; a third reviewer resolved disputes when necessary. The initial search returned 124 references, of which 10 full articles were included in the review. Five of the studies conducted analyses using model-based techniques.

Results

Severe combined immunodeficiency (SCID) was the predominantly studied condition (80%). Most studies (70%) examined the T-cell receptor excision circle (TREC) assay. A healthcare system's perspective was commonly used (50%) for cost calculations, and most studies (50%) were US-based. The majority (67%) of the studies found the TREC assay an effective screening tool for SCID, but the incremental cost-effectiveness ratio (ICER) varied across screening test specificity and disease incidence.

Conclusions

Evidence from the published literature demonstrated that newborn screening for PIDs generally appeared to be cost-effective, and most importantly, it is lifesaving and allows children with PIDs an opportunity to live a healthier life. However, the type of PIDs included in this study were limited and most studies were done in developed countries whose health systems are different from low-/middle-income countries (LMIC). Further research is required to identify the cost-effectiveness of PIDs screening both in developed and developing countries.