Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology
Asheeta Gupta, Kushani Jayasinghe, Amar Majmundar, Nina Mann, Rajiv Sinha, Matthew G. Sampson, Catherine Quinlan

TL;DR
This paper introduces a two-part educational review to help nephrologists better understand and implement genetic and genomic testing in pediatric kidney disease.
Contribution
The paper provides an evidence-based educational framework to improve genetic literacy and access to kidney genetic care models for nephrologists.
Findings
Genomic testing is crucial for diagnosing and managing pediatric kidney diseases.
Nephrologists need better education and resources to integrate genomic medicine into their practice.
Operational models for kidney genetics services can be adapted to different clinical settings.
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. A higher resolution version of the Graphical abstract is available as Supplementary information A higher…
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Taxonomy
TopicsRenal and related cancers · Renal Diseases and Glomerulopathies · Prenatal Screening and Diagnostics
