下一代肾脏病学:第2部分-主流基因组学肾脏病学,全球视角。

IF 2.6 3区 医学 Q1 PEDIATRICS
Pediatric Nephrology Pub Date : 2025-09-01 Epub Date: 2025-02-28 DOI:10.1007/s00467-025-06711-7
Asheeta Gupta, Kushani Jayasinghe, Amar Majmundar, Nina Mann, Rajiv Sinha, Matthew G Sampson, Catherine Quinlan
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引用次数: 0

摘要

肾脏遗传服务正在全球范围内创建,彻底改变了我们管理疑似单基因肾病家庭的方式。无论一个人是刚刚开始这一旅程,还是在一个既定的肾脏遗传学服务模式中,都有可能相互学习,并希望进一步优化它。这是我们两部分教育综述的最后一部分,探讨了将基因组学整合到肾脏病学中的全球努力。我们讨论了建立肾脏遗传服务的关键考虑因素,并通过案例研究分享了澳大利亚、印度、英国和美国成功实施的见解。基因组学在肾脏病学中的广泛整合仍然面临着障碍,包括临床医生基因组学教育有限,成本高和伦理问题。教育策略包括以研讨会为基础的在线资源和临床决策工具,旨在解决肾病学家之间的基因组素养差距。由肾脏学家、遗传学家、临床科学家和咨询师组成的多学科肾脏遗传学临床模型被证明是提供这种诊断工具的有效模型。肾脏遗传学诊所如何促进与登记处的合作,以促进研究和共享学习,以优化对患者的护理,这些数据正变得越来越明显。我们还探讨了在不同人群中公平获取基因组学服务的重要性,倡导制定政策,解决医疗保健和基因数据表示方面的差异。我们希望强调提高肾病学工作人员技能的重要性,以充分利用基因组医学的进步,确保遗传性肾病患者得到全面、可获得和个性化的护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.

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.

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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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