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Next-generation nephrology: part 2—mainstreaming genomics in nephrology, a global perspective

  • Asheeta Gupta*
  • , Kushani Jayasinghe
  • , Amar Majmundar
  • , Nina Mann
  • , Rajiv Sinha
  • , Matthew G. Sampson
  • , Catherine Quinlan
  • *Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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. Graphical abstract: A higher resolution version of the Graphical abstract is available as Supplementary information
Original languageEnglish
Pages (from-to)2779-2793
Number of pages15
JournalPediatric Nephrology
Volume40
Issue number9
Early online date28 Feb 2025
DOIs
Publication statusPublished - 1 Sept 2025

Bibliographical note

Publisher Copyright:
© The Author(s) 2025.

Keywords

  • Mainstreaming
  • Kidney
  • Genomics
  • Genetics
  • Education
  • Clinic
  • Equity

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