Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

Abstract

by Jovanka R. King,Kalle Grill andLennart Hammarström
Int. J. Neonatal Screen. 2023, 9(2), 22; https://doi.org/10.3390/ijns9020022 - 11 Apr 2023
Cited by 8 | Viewed by 2915
Abstract
Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (SCID) is currently underway in several countries, utilising a DNA-based technique to quantify T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC). This strategy will only identify those infants with an IEI associated with T and/or B cell lymphopenia. Other severe forms of IEI will not be detected. Up-front, first-tier genomic-based newborn screening has been proposed as a potential approach by which to concurrently screen infants for hundreds of monogenic diseases at birth. Given the clinical, phenotypic and genetic heterogeneity of IEI, a next-generation sequencing-based newborn screening approach would be suitable. There are, however, several ethical, legal and social issues which must be evaluated in detail prior to adopting a genomic-based newborn screening approach, and these are discussed herein in the context of IEI. Full article
(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)
11 pages, 1550 KiB
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