Exploring the impact and utility of genomic sequencing in established CKD

Author:

Jefferis Julia123,Mallett Andrew J2456ORCID

Affiliation:

1. Genetic Health Queensland, Royal Brisbane and Women's Hospital , Brisbane, Australia

2. Faculty of Medicine, The University of Queensland , Brisbane , Australia

3. Kidney Health Service, Royal Brisbane and Women's Hospital , Brisbane , Australia

4. Institute for Molecular Bioscience, The University of Queensland , Brisbane , Australia

5. Department of Renal Medicine, Townsville University Hospital , Douglas, Australia

6. College of Medicine and Dentistry, James Cook University , Douglas, Australia

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.

Publisher

Oxford University Press (OUP)

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