肾病学中实施基因检测的护理模式。

IF 3.5 3区医学 Q2 UROLOGY & NEPHROLOGY

Seminars in nephrology Pub Date : 2025-09-01 DOI:10.1016/j.semnephrol.2025.151649

Dervla M. Connaughton MB, BCh, BAOI, LRCP&SI, MSc, PhD , Andrew J. Mallett MBBS, MMed, PhD, CF, AFRACMA, FISN, FASN, FRCP, FRACP

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引用次数: 0

摘要

基因检测在提高肾脏疾病的诊断和管理方面具有巨大的潜力，但它与常规肾脏学护理的结合仍然有限，而且经常被推迟。尽管有强有力的证据支持其临床效用和成本效益，但重大障碍阻碍了其广泛采用。本综述考察了旨在将基因检测嵌入肾脏病实践的护理模式，并提出了改善慢性肾病患者可及性的策略。关键方法包括加强临床遗传服务，建立肾脏遗传学诊所，利用虚拟咨询等技术，组建变异审查委员会和多学科小组，以及将基因检测纳入肾脏病治疗的主流。对于每个模型，审查确定了成功的基本组成部分，并讨论了实施的障碍和促进因素。通过关注实用的、可扩展的、以患者为中心的解决方案，本综述倡导肾病学护理的范式转变。它设想将基因检测作为肾脏疾病管理的标准组成部分，旨在改善结果并促进全球患者的公平护理。

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Models of Care for the Implementation of Genetic Testing in Nephrology

Genetic testing holds great potential to enhance the diagnosis and management of kidney disease, yet its integration into routine nephrology care remains limited and often delayed. Despite strong evidence supporting its clinical utility and cost effectiveness, significant barriers hinder its widespread adoption. This review examines care models designed to embed genetic testing into nephrology practice and proposes strategies to improve access for chronic kidney disease patients. Key approaches include enhancing clinical genetic services, establishing kidney genetics clinics, using technology such as virtual consultations, forming variant review boards and multidisciplinary teams, and mainstreaming genetic testing into nephrology care. For each model, the review identifies essential components for success and discusses barriers and facilitators to implementation. By focusing on practical, scalable, and patient-centered solutions, this review advocates for a paradigm shift in nephrology care. It envisions genetic testing as a standard component of kidney disease management, aiming to improve outcomes and promote equitable care for patients globally.

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来源期刊

Seminars in nephrology 医学-泌尿学与肾脏学

CiteScore

5.60

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Seminars in Nephrology is a timely source for the publication of new concepts and research findings relevant to the clinical practice of nephrology. Each issue is an organized compendium of practical information that serves as a lasting reference for nephrologists, internists and physicians in training.