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Updated: May 28, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology
Asheeta Gupta1,2,3,4,5, Kushani Jayasinghe6,7,8,9, Amar Majmundar10,11
1Dept of Pediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK. asheeta.gupta@gosh.nhs.uk.
Abstract:
Genetic and genomic testing has transformed the practice of clinical nephrology. Yet nephrologists have identified genetic literacy and access to kidney genetic care models as critical barriers to utilising this technology in their practice. To accelerate the implementation of genomic medicine in clinical nephrology, we provide a two-part evidence-based educational review. This inaugural segment highlights the importance of genomic testing for kidney disease and the steps a nephrologist can take to understand and apply this technology to one's own clinical practice. The second part delineates approaches to operationalising a kidney genetics service based on existing models, reported barriers, and the authors' experiences in developing kidney clinic models for different settings.

