Genomic testing in patients with renal disease.


Journal

British journal of hospital medicine (London, England : 2005)
ISSN: 1750-8460
Titre abrégé: Br J Hosp Med (Lond)
Pays: England
ID NLM: 101257109

Informations de publication

Date de publication:
02 Jul 2023
Historique:
medline: 27 7 2023
pubmed: 25 7 2023
entrez: 25 7 2023
Statut: ppublish

Résumé

Inherited kidney disease accounts for a significant proportion of chronic kidney disease and end-stage renal failure. There is increasing evidence that genetic testing for inherited kidney disease should be integrated into clinical care pathways at the earliest opportunity so that patients and their families can maximally benefit from carefully tailored care. Despite increased availability of genetic testing, the proportion of patients with renal disease undergoing genetic investigations remains low. This article introduces key concepts of genetic and genomic testing to the renal physician and addresses some common barriers to the wider integration of genetic testing in routine clinical practice to fully capitalise on recent advances in genomic medicine and improve patient outcomes.

Identifiants

pubmed: 37490441
doi: 10.12968/hmed.2023.0085
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1-11

Auteurs

Katya Lyulcheva-Bennett (K)

Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.

Simon Williams (S)

Department of Nephrology, Royal Liverpool Hospital, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.

Matthew Howse (M)

Department of Nephrology, Royal Liverpool Hospital, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.

Emma McCann (E)

Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
The North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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Classifications MeSH