Genomic Medicine for Kidney Disease

Overview

Journal Nat Rev Nephrol

Specialty Nephrology

Date 2018 Jan 9

PMID 29307893

Citations 69

Authors

Emily E Groopman

Hila Milo Rasouly

Ali G Gharavi

Affiliations

Soon will be listed here.

Abstract

Technologies such as next-generation sequencing and chromosomal microarray have advanced the understanding of the molecular pathogenesis of a variety of renal disorders. Genetic findings are increasingly used to inform the clinical management of many nephropathies, enabling targeted disease surveillance, choice of therapy, and family counselling. Genetic analysis has excellent diagnostic utility in paediatric nephrology, as illustrated by sequencing studies of patients with congenital anomalies of the kidney and urinary tract and steroid-resistant nephrotic syndrome. Although additional investigation is needed, pilot studies suggest that genetic testing can also provide similar diagnostic insight among adult patients. Reaching a genetic diagnosis first involves choosing the appropriate testing modality, as guided by the clinical presentation of the patient and the number of potential genes associated with the suspected nephropathy. Genome-wide sequencing increases diagnostic sensitivity relative to targeted panels, but holds the challenges of identifying causal variants in the vast amount of data generated and interpreting secondary findings. In order to realize the promise of genomic medicine for kidney disease, many technical, logistical, and ethical questions that accompany the implementation of genetic testing in nephrology must be addressed. The creation of evidence-based guidelines for the utilization and implementation of genetic testing in nephrology will help to translate genetic knowledge into improved clinical outcomes for patients with kidney disease.

Citing Articles

Application of Nanomaterial-Mediated Ferroptosis Regulation in Kidney Disease.

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A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.

Li S, Hu M, He C, Sun Y, Huang W, Lei F PLoS One. 2024; 19(12):e0304864.

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Nephrologists' Views on a Workflow for Returning Genetic Results to Research Participants.

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