Journal

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

Read time: 1 mins

Published:14th Jul 2021

Author: Knoers N, Antignac C, Bergmann C, Dahan K, Giglio S, Heidet L et al.

Source: Nephrology Dialysis Transplantation

Ref.:Nephrol Dial Transplant. 2021 Jul 15:gfab218

DOI:10.1093/ndt/gfab218

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

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.

Read abstract on library site Access full article

Hyperkalaemia

Containing relevant Learning Zones, guidelines, trials and news.

A digital image of two human kidneys, stylised in blue and red

Chronic Kidney Disease

Containing relevant Learning Zones, guidelines, trials and news.

Digital close up of human kidney glomerulus and the Bowman Capsule

Glomerulonephritis

Containing relevant Learning Zones, guidelines, trials and news.

Featured Learning Zones

patient receiving dialysis, hospital image

Learning Zone

Chronic Kidney Disease Learning Zone

Chronic Kidney Disease (CKD) is a disease that can often lead to a need for haemodialysis and kidney transplantation. New CKD treatments are emerging which focus on delaying CKD disease progression and the need for transplantation.

You may be interested in...

Guideline

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome

Recent advancements in high-throughput sequencing have significantly enhanced our understanding of the genetics behind Cushing’s syndrome. Experts from the French Society of Endocrinology and French Society of Endocrinology and Pediatric Endocrinology reviewed genetic predispositions, resulting in a consensus statement on screening for Cushing disease and adrenal Cushing’s syndrome. Discover their key findings and recommendations.

Guideline

Consensus on diagnosis and management of Cushing's disease: a guideline update

The Pituitary Society’s Consensus Workshop brought together over 50 experts to refine the clinical approach to Cushing’s disease. This comprehensive review and collaborative discussion resulted in updated recommendations for diagnosis, treatment, and management, highlighting key areas for future research. Discover the latest consensus on optimizing patient outcomes in Cushing’s disease.

Guideline

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024

Background and purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late-onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT.