An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.
Inborn errors of immunity
newborn screening
next-generation sequencing
severe combined immunodeficiency
Journal
The Journal of allergy and clinical immunology
ISSN: 1097-6825
Titre abrégé: J Allergy Clin Immunol
Pays: United States
ID NLM: 1275002
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
27
10
2020
revised:
18
12
2020
accepted:
18
12
2020
entrez:
8
2
2021
pubmed:
9
2
2021
medline:
14
9
2021
Statut:
ppublish
Résumé
Wilson and Jungner's recommendations for population-based screening have been used to guide decisions regarding candidate disease inclusion in newborn screening programs for the past 50 years. The advent of genomic-based technologies, including next-generation sequencing and its potential application to newborn screening, along with a changing landscape in terms of modern clinical practice and ethical, social, and legal considerations has led to a call for review of these criteria. Inborn errors of immunity (IEI) are a heterogeneous group of more than 450 genetically determined disorders of immunity, which are associated with significant morbidity and mortality, particularly where diagnosis and treatment are delayed. We argue that in addition to screening for severe combined immunodeficiency disease, which has already been initiated in several countries, other clinically significant IEI should be screened for at birth. Because of disease heterogeneity and identifiable genetic targets, a next-generation sequencing-based screening approach would be most suitable. A combination of worldwide experience and technological advances has improved our ability to diagnose and effectively treat patients with IEI. Considering IEI in the context of updated recommendations for population-based screening supports their potential inclusion as disease targets in newborn screening programs.
Identifiants
pubmed: 33551024
pii: S0091-6749(20)32422-2
doi: 10.1016/j.jaci.2020.12.633
pmc: PMC8344044
mid: NIHMS1727103
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
428-438Subventions
Organisme : Intramural NIH HHS
ID : ZIA AI001222
Pays : United States
Informations de copyright
Copyright © 2020 American Academy of Allergy, Asthma & Immunology. All rights reserved.
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