An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity - 04/02/21
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Abstract |
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.
Le texte complet de cet article est disponible en PDF.Key words : Inborn errors of immunity, newborn screening, next-generation sequencing, severe combined immunodeficiency
Abbreviations used : ADA, AT, GT, HLH, HSCT, IEI, IEM, JAK, LRBA, MS/MS, mTOR, NGS, SCID, STAT, TREC, WES, VUS, WGS
Plan
L.D.N. is supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (grant no. 1 ZIA AI001222-02). |
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Disclosure of potential conflict of interest: L. Hammarström is on the advisory board of ImmunoIVD. ImmunoIVD manufactures commercial kits for newborn screening for inborn errors of immunity using currently available technologies (T-cell receptor excision circle and kappa-deleting recombination excision circle quantitation). ImmunoIVD does not currently provide commercial assays for newborn screening using next-generation sequencing. In addition, ImmunoIVD does not have any future plans to establish such testing. The rest of the authors declare that they have no relevant conflicts of interest. |
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Terms in boldface and italics are detailed in the glossary on page 429. |
Vol 147 - N° 2
P. 428-438 - février 2021 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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