An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity - 04/02/21

Doi : 10.1016/j.jaci.2020.12.633

Jovanka R. King, PhD, FRACP, FRCPA, BMBS(Hons) ^a,^b,^c, Luigi D. Notarangelo, PhD, MD ^d, Lennart Hammarström, PhD, MD ^a,^⁎
^a Department of Clinical Immunology, Karolinska University Hospital Huddinge, Stockholm, Sweden
^b Department of Immunopathology, SA Pathology, Women’s and Children’s Hospital Campus, Adelaide, Australia
^c Robinson Research Institute and Discipline of Paediatrics, School of Medicine, University of Adelaide, Adelaide, Australia
^d Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md

^∗Corresponding author: Lennart Hammarström, PhD, MD, Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden.Department of Clinical ImmunologyKarolinska University Hospital HuddingeStockholmSE-14186Sweden

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.

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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

2020 Vision: a modern-day review of the wilson and jungner criteria

Newborn screening for IEI

The diagnosis of primary immunodeficiency diseases is frequently delayed, resulting in significant morbidity and mortality

Management of IEI

Many forms of IEI can be managed with preventative and supportive measures

Specific forms of IEI can be managed with targeted or disease-modifying therapies

HSCT and GT are curative treatment options for many forms of IEI

The updated Wilson and Jungner criteria and the case for newborn screening for IEI using NGS-based screening

The screening test should be acceptable to the population, and ethical, legal, and social implications should be considered^{Dobrow M.J., Hagens V., Chafe R., Sullivan T., Rabeneck L. Consolidated principles for screening based on a systematic review and consensus process CMAJ 2018 ; 190 : E422-E429}

The roadmap to NGS-based screening for IEI

Conclusions

	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).
	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.
	Terms in boldface and italics are detailed in the glossary on page 429.