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Lookup NU author(s): Professor Andrew GenneryORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2021 The Authors. Background: Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia. Objectives: This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge. Methods: A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs. Results: The study's recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance. Conclusions: By bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide.
Author(s): Blom M, Zetterstrom RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M
Publication type: Article
Publication status: Published
Journal: Journal of Allergy and Clinical Immunology
Year: 2022
Volume: 149
Issue: 4
Pages: 1428-1436
Print publication date: 05/04/2022
Online publication date: 16/09/2021
Acceptance date: 23/08/2021
Date deposited: 01/11/2021
ISSN (print): 0091-6749
ISSN (electronic): 1097-6825
Publisher: Elsevier Inc.
URL: https://doi.org/10.1016/j.jaci.2021.08.026
DOI: 10.1016/j.jaci.2021.08.026
PubMed id: 34537207
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