Sökning: L773:2409 515X >
Genomic-based newbo...
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)
- Karolinska Institutet
-
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
- Relaterad länk:
-
https://doi.org/10.3...
-
visa fler...
-
https://umu.diva-por... (primary) (Raw object)
-
https://urn.kb.se/re...
-
https://doi.org/10.3...
-
http://kipublication...
-
visa färre...
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
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas