Related Experiment Video
Updated: May 24, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective
Asheeta Gupta1,2,3,4,5, Kushani Jayasinghe6,7,8,9, Amar Majmundar10,11
1Dept. of Pediatric Nephrology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham , UK. asheeta.gupta@rch.org.au.
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.
More Related Videos
11:47Using 2-Photon Microscopy to Quantify the Effects of Chronic Unilateral Ureteral Obstruction on Glomerular Processes
Published on: March 4, 2022
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Related Concept Videos
Genomics
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Gene Therapy