Genetic Testing in the Diagnosis of Chronic Kidney Disease: Recommendations for Clinical Practice

Overview

Journal Nephrol Dial Transplant

Publisher Oxford University Press

Specialties General Surgery
Nephrology

Date 2021 Jul 15

PMID 34264297

Citations 46

Authors

Nine Knoers

Corinne Antignac

Carsten Bergmann

Karin Dahan

Sabrina Giglio

Laurence Heidet

Beata S Lipska-Zietkiewicz

Marina Noris

Giuseppe Remuzzi

Rosa Vargas-Poussou

Franz Schaefer

Affiliations

Soon will be listed here.

Abstract

The overall diagnostic yield of massively parallel sequencing-based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases and 6-30% for adult cases. These figures should encourage nephrologists to frequently use genetic testing as a diagnostic means for their patients. However, in reality, several barriers appear to hinder the implementation of massively parallel sequencing-based diagnostics in routine clinical practice. In this article we aim to support the nephrologist to overcome these barriers. After a detailed discussion of the general items that are important to genetic testing in nephrology, namely genetic testing modalities and their indications, clinical information needed for high-quality interpretation of genetic tests, the clinical benefit of genetic testing and genetic counselling, we describe each of these items more specifically for the different groups of genetic kidney diseases and for CKD of unknown origin.

Citing Articles

Not Just Small Adults: Considerations for Pediatric Chronic Kidney Disease.

Gerber A, Kamath N Indian J Nephrol. 2025; 35(2):168-177.

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Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.

Gupta A, Jayasinghe K, Majmundar A, Mann N, Sinha R, Sampson M Pediatr Nephrol. 2025; .

PMID: 40019555 DOI: 10.1007/s00467-025-06711-7.

Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.

Lee C, Chuang C, Chiu H, Chang Y, Tu Y, Lo Y Int J Med Sci. 2025; 22(4):903-919.

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Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.

Schott C, Arnaldi M, Baker C, Wang J, McIntyre A, Colaiacovo S Kidney Int Rep. 2025; 10(2):574-590.

PMID: 39990878 PMC: 11843117. DOI: 10.1016/j.ekir.2024.11.004.

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.

Mallawaarachchi A, McCarthy H, Forbes T, Jayasinghe K, Patel C, Alexander S BMC Nephrol. 2025; 26(1):51.

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