Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Nine Knoers; Corinne Antignac; Carsten Bergmann; Karin Dahan; Sabrina Giglio; Laurence Heidet; Beata S Lipska-Ziętkiewicz; Marina Noris; Giuseppe Remuzzi; Rosa Vargas-Poussou; Franz Schaefer

doi:10.1093/ndt/gfab218

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Nephrol Dial Transplant. 2022 Jan 25;37(2):239-254. doi: 10.1093/ndt/gfab218.

Authors

Nine Knoers¹, Corinne Antignac², Carsten Bergmann^{3

4}, Karin Dahan^{5

6}, Sabrina Giglio^{7

8}, Laurence Heidet⁹, Beata S Lipska-Ziętkiewicz^{10

11}, Marina Noris¹², Giuseppe Remuzzi¹², Rosa Vargas-Poussou¹³, Franz Schaefer¹⁴

Affiliations

¹ Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
² Département de Génétique, Institut Imagine (Inserm U1163), Paris, France.
³ Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
⁴ Department of Medicine, Nephrology, University Hospital Freiburg, Freiburg, Germany.
⁵ Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
⁶ Center of Human Genetics, Institut de Pathologie et de Génétique, Gosselies, Belgium.
⁷ Department of Medical Sciences and Public Health, Unit of Medical Genetics, University of Cagliari, Cagliari, Italy.
⁸ Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
⁹ Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
¹⁰ Centre for Rare Diseases, Medical University of Gdansk, Gdansk, Poland.
¹¹ Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.
¹² Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Aldo & Cele Daccò Clinical Research Center for Rare Diseases, Bergamo, Italy.
¹³ Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.
¹⁴ Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.

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.

Keywords: chronic kidney disease; clinical benefit; genetic counselling; genetic testing; massively parallel sequencing; monogenic diseases.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Kidney
Nephrology*
Renal Insufficiency, Chronic* / diagnosis
Renal Insufficiency, Chronic* / genetics