Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.

IF 2.6 3区 医学 Q1 PEDIATRICS
Pediatric Nephrology Pub Date : 2025-09-01 Epub Date: 2025-02-13 DOI:10.1007/s00467-025-06697-2
Asheeta Gupta, Kushani Jayasinghe, Amar Majmundar, Nina Mann, Rajiv Sinha, Matthew G Sampson, Catherine Quinlan
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引用次数: 0

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.

下一代肾脏病学:第1部分:儿童肾脏病学中基因和基因组检测的辅助。
遗传和基因组检测已经改变了临床肾脏病学的实践。然而,肾病学家已经确定遗传知识和获得肾脏遗传护理模型是在他们的实践中利用这项技术的关键障碍。为了加快基因组医学在临床肾内科的实施,我们提供两部分循证教育综述。这一开始的部分强调了肾脏疾病基因组检测的重要性,以及肾脏科医生可以采取的步骤来理解和应用这项技术到自己的临床实践。第二部分描述了基于现有模型的肾脏遗传学服务的操作方法,报告的障碍,以及作者在不同环境下开发肾脏临床模型的经验。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Pediatric Nephrology
Pediatric Nephrology 医学-泌尿学与肾脏学
CiteScore
4.70
自引率
20.00%
发文量
465
审稿时长
1 months
期刊介绍: International Pediatric Nephrology Association Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.
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