The Art and Science of Genetic Counseling in Nephrology.

IF 3.2 Q1 UROLOGY & NEPHROLOGY
Kidney360 Pub Date : 2025-04-22 DOI:10.34067/KID.0000000825
Kelsie Bogyo, Natalie Vena, Hila Milo Rasouly
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引用次数: 0

Abstract

The recognition that up to 10% of individuals with kidney diseases might obtain a genetic diagnosis has led to genetic testing becoming a critical component of nephrology practice. Genetic counselors have expertise in providing genomic services, which include genetic counseling and testing. They play a crucial role by helping patients estimate their genetic risks, understand the impact of results, and by coordinating follow-up care. Nephrologists are in a pivotal position to offer genomic services directly to their patients or to refer them to genetic counseling before or after genetic testing. Nephrologists should therefore be able to identify patients who would benefit most from these services. To effectively refer patients, nephrologists should be able to explain the genetic counseling process and its relevance to the patient. This review aims to help build a collaborative relationship between nephrologists and genetic counselors. It introduces and expands upon the topics genetic counselors cover during genetic counseling sessions, including how they support patients in understanding the implications of genetic findings, decision-making related to genetic testing, and the psychosocial aspects of living with a genetic diagnosis. By integrating genetic counseling into nephrology, patients with kidney diseases can receive comprehensive care tailored to their genetic and clinical needs.

肾脏病学遗传咨询的艺术与科学。
认识到高达10%的肾脏疾病患者可能获得基因诊断,导致基因检测成为肾脏病实践的关键组成部分。遗传咨询师在提供基因组服务方面具有专业知识,其中包括遗传咨询和测试。他们在帮助患者估计其遗传风险、了解结果的影响以及协调后续护理方面发挥着至关重要的作用。肾病学家在直接向患者提供基因组服务或在基因检测之前或之后将他们转介给遗传咨询方面处于关键地位。因此,肾病学家应该能够确定哪些患者将从这些服务中获益最多。为了有效地转诊患者,肾病学家应该能够解释遗传咨询过程及其与患者的相关性。本综述旨在帮助建立肾脏学家和遗传咨询师之间的合作关系。它介绍并扩展了遗传咨询师在遗传咨询会议期间所涵盖的主题,包括他们如何支持患者理解遗传发现的含义,与基因检测相关的决策,以及与遗传诊断生活的社会心理方面。通过将遗传咨询整合到肾脏病学中,肾病患者可以根据他们的遗传和临床需要接受全面的护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Kidney360
Kidney360 UROLOGY & NEPHROLOGY-
CiteScore
3.90
自引率
0.00%
发文量
0
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