Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol
Mallawaarachchi, Amali, Mccarthy, Hugh, Forbes, Thomas A., Jayasinghe, Kushani, Patel, Chirag, Alexander, Stephen I., Boughtwood, Tiffany, Braithwaite, Jeffrey, Chakera, Aron, Crafter, Sam, Deveson, Ira W., Faull, Randall, Harris, Trudie, Johnstone, Lilian, Jose, Matthew, Leaver, Anna, Little, Melissa H., MacArthur, Daniel, Mattiske, Tessa, Mincham, Christine, Nicholls, Kathy, Quinlan, Catherine, Quinn, Michael C.J., Rangan, Gopala, Ryan, Jessica, Simons, Cas, Smyth, Ian, Sundaram, Madhivanan, Trnka, Peter, Wedd, Laura, Biros, Erik, Stark, Zornitza, and Mallett, Andrew (2025) Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol. BMC Nephrology, 26 (1). 51.
|
PDF (Published Version)
- Published Version
Available under License Creative Commons Attribution Non-commercial No Derivatives. Download (1MB) | Preview |
Abstract
Background: Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adults across all stages of kidney disease. Precise genetic diagnosis in GKD promises to improve patient outcomes, provide access to targeted treatments, and reduce the disease burden for individuals, families, and healthcare systems. Genetic investigations are increasingly used in nephrology practice; however, many patients who undergo testing still lack a definitive diagnosis. Methods: The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. Participants will undergo a personalised pathway of research genomic investigations. These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids. Discussion: The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis.
| Item ID: | 87758 |
|---|---|
| Item Type: | Article (Scholarly Work) |
| ISSN: | 1471-2369 |
| Keywords: | Advanced genomic testing, Diagnostic yield, Genetic kidney disease, Re-analysis, Study protocol, Undiagnosed patients |
| Copyright Information: | © The Author(s) 2025. This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. |
| Date Deposited: | 13 Feb 2026 06:02 |
| FoR Codes: | 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 100% |
| SEO Codes: | 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100% |
| More Statistics |
Actions (Repository Staff Only)
 |
Item Control Page |