Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/53363
Title: Next-generation nephrology: part 2 - Mainstreaming genomics in nephrology, a global perspective.
Authors: Gupta A.;Jayasinghe K.;Majmundar A.;Mann N.;Sinha R.;Sampson M.G.;Quinlan C.
Monash Health Department(s): Nephrology
Institution: (Gupta) Dept. of Pediatric Nephrology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom
(Gupta, Quinlan) Dept of Pediatric Nephrology,, Melbourne, Australia, Royal Children's Hospital, Melbourne, Australia
(Gupta, Jayasinghe, Quinlan) Kidney Regeneration, Murdoch Research Institute, Melbourne, Australia
(Gupta) University of Bristol, Bristol, United Kingdom
(Jayasinghe) Dept of Nephrology, Monash Medical Centre, Melbourne, Australia
(Jayasinghe) Monash University, Melbourne, Australia
(Jayasinghe) Melbourne Health, Melbourne, Australia
(Majmundar, Mann, Sampson) Division of Pediatric Nephrology, Boston Children's Hospital, Massachusetts, United States
(Majmundar, Mann, Sampson) Harvard Medical School, MA, United States
(Sinha) Institute of Child Health, Kolkata, India
(Sampson) Brigham and Women's Hospital Kidney Disease Initiative, Broad Institute, MA, United States
(Quinlan) Dept of Pediatrics, School of Medicine, University of Melbourne, Melbourne, Australia
(Gupta) Dept of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
Issue Date: 11-Mar-2025
Copyright year: 2025
Publisher: Springer Science and Business Media Deutschland GmbH
Place of publication: Germany
Publication information: Pediatric Nephrology. (no pagination), 2025. Article Number: e37236. Date of Publication: 2025.
Journal: Pediatric Nephrology
Abstract: Kidney genetic services are being created worldwide, revolutionising the way in which we manage families with suspected monogenic kidney disease. There is potential to learn from one another, whether one is just embarking on this journey or within an established kidney genetics service model with aspirations to optimise it further. This concluding portion of our two-part educational review explores the global efforts to integrate genomics into nephrology. We discuss key considerations for establishing kidney genetics services and share insights from successful implementation in Australia, India, the United Kingdom (UK) and the United States (US), through case studies. Widespread integration of genomics within nephrology still faces barriers including limited genomics education among clinicians, high costs and ethical concerns. Educational strategies including workshop-based, online resources and clinical decision tools are aiming to address the genomic literacy gap among nephrologists. Multidisciplinary kidney genetics clinic models comprising nephrologists, geneticists, clinical scientists and counsellors are proving to be an effective model of delivering this diagnostic tool. Data of how kidney genetics clinics can foster collaboration with registries to facilitate research and shared learning to optimise care for patients are becoming evident. We also explore the importance of equitable access to genomics services across diverse populations, advocating for policies that address disparities in access to healthcare and genetic data representation. We hope to highlight the importance of upskilling the nephrology workforce to fully leverage the advances in genomic medicine and ensure comprehensive, accessible and personalised care for patients with genetic kidney diseases.Copyright © The Author(s) 2025.
DOI: http://monash.idm.oclc.org/login?url=https://dx.doi.org/10.1007/s00467-025-06711-7
PubMed URL: 40019555
URI: https://repository.monashhealth.org/monashhealthjspui/handle/1/53363
Type: Article In Press
Subjects: collaborative learning
counselor
genetic service
genomics
kidney disease
nephrologist
nephrology
Type of Clinical Study or Trial: Review article (e.g. literature review, narrative review)
Appears in Collections:Articles

Show full item record

Page view(s)

6
checked on Apr 17, 2025

Google ScholarTM

Check


Items in Monash Health Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.