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

Knoers, Nine;Antignac, Corinne;Bergmann, Carsten;Dahan, Karin;Giglio, Sabrina

Membro del Collaboration Group

;Heidet, Laurence;Lipska-Ziętkiewicz, Beata S;Noris, Marina;Remuzzi, Giuseppe;Vargas-Poussou, Rosa;Schaefer, Franz

2022-01-01

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Abstract

The overall diagnostic yield of massively parallel sequencing (MPS) based-tests in patients with chronic kidney disease (CKD) is around 30% for pediatric cases and 6-30% for adult cases. These figures should encourage nephrologists to frequently use genetic testing as a diagnostic means for their patients, but in reality several barriers appear to hinder the implementation of NGS diagnostics in routine clinical practice. In this paper, we aim to support the nephrologist to overcome these barriers. After a detailed discussion on the general items that are important to genetic testing in nephrology, namely (1) genetic testing modalities and their indications, (2) clinical information needed for high-quality interpretation of the genetic test, (3) clinical benefit of genetic testing and (4) genetic counselling, we will describe each of these items more specifically for the different groups of genetic kidney diseases and for CKD of unknown origin.