Exploring the Impact and Utility of Genomic Sequencing in Established CKD

Overview

Journal Clin Kidney J

Publisher Oxford University Press

Specialty Nephrology

Date 2024 Mar 11

PMID 38464959

Authors

Julia Jefferis

Andrew J Mallett

Affiliations

Soon will be listed here.

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.

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