Abstract

ABSTRACT

Clinical genetics is increasingly recognized as an important area within nephrology care. Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes, consider use of genomics to aid diagnosis, and inform treatment decisions. Understanding the broad spectrum of clinical phenotypes and principles of genomic sequencing is becoming increasingly required in clinical nephrology, with nephrologists requiring education and support to achieve meaningful patient outcomes. Establishment of effective clinical resources, multi-disciplinary teams and education is important to increase application of genomics in clinical care, for the benefit of patients and their families. Novel applications of genomics in chronic kidney disease include pharmacogenomics and clinical translation of polygenic risk scores. This review explores established and emerging impacts and utility of genomics in kidney disease.

Details

Title
Exploring the impact and utility of genomic sequencing in established CKD
Author
Jefferis, Julia 1 ; Mallett, Andrew J 2   VIAFID ORCID Logo 

 Genetic Health Queensland, Royal Brisbane and Women's Hospital , Brisbane, Australia 
 Faculty of Medicine, The University of Queensland , Brisbane , Australia 
Publication year
2024
Publication date
Mar 2024
Publisher
Oxford University Press
ISSN
20488505
e-ISSN
20488513
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3167998732
Copyright
© The Author(s) 2024. Published by Oxford University Press on behalf of the ERA. This work is published under https://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.