Genomic-based newborn screening for inborn errors of immunity: practical and ethical considerations

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Genomic-based newborn screening for inborn errors of immunity : practical and ethical considerations

King, Jovanka R. (författare): Department of Allergy & Clinical Immunology, Women’s and Children’s Hospital Network, North Adelaide, SA 5006, Australia; jovanka.king@adelaide.edu.au; Immunology Directorate, SA Pathology, Adelaide, SA 5000, Australia; Robinson Research Institute and Discipline of Paediatrics, School of Medicine, University of Adelaide, North Adelaide, Australia

Grill, Kalle, 1976- (författare): Umeå universitet,Institutionen för idé- och samhällsstudier,Philosophy

Hammarström, Lennart (författare): Department of Biosciences and Nutrition, Neo, Karolinska Institutet, Huddinge, Sweden

Department of Allergy & Clinical Immunology, Women’s and Children’s Hospital Network, North Adelaide, SA 5006, Australia; jovankaking@adelaide.edu.au; Immunology Directorate, SA Pathology, Adelaide, SA 5000, Australia; Robinson Research Institute and Discipline of Paediatrics, School of Medicine, University of Adelaide, North Adelaide, Australia Institutionen för idé- och samhällsstudier (creator_code:org_t)

MDPI, 2023
2023
Engelska.
Ingår i: International Journal of Neonatal Screening. - : MDPI. - 2409-515X. ; 9:2

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Abstract Ämnesord

Stäng

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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Annan klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Other Clinical Medicine (hsv//eng)
HUMANIORA -- Filosofi, etik och religion -- Etik (hsv//swe)
HUMANITIES -- Philosophy, Ethics and Religion -- Ethics (hsv//eng)

Nyckelord

inborn errors of immunity (IEI)
newborn screening
next-generation sequencing (NGS)
whole-exome sequencing (WES)
whole-genome sequencing (WGS)
ethical
legal and social considerations (ELSI)
Practical Philosophy
praktisk filosofi
immunologi
Immunology

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Av författaren/redakt...: King, Jovanka R.; Grill, Kalle, 19 ...; Hammarström, Len ...

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Annan klinisk me ...

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Av lärosätet: Umeå universitet

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