肾脏基因中的风险等位基因交流:APOL1的经验教训和风险等位基因的新发现。

IF 3.5 3区 医学 Q2 UROLOGY & NEPHROLOGY
Seminars in nephrology Pub Date : 2025-07-01 Epub Date: 2025-07-21 DOI:10.1016/j.semnephrol.2025.151656
Yasar Caliskan, Ana Iltis, Janewit Wongboonsin, Krista L Lentine
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引用次数: 0

摘要

有效沟通遗传风险等位基因,特别是APOL1肾脏风险变异,对于增强患者理解、指导临床决策和确保公平的医疗保健至关重要。这篇综述探讨了肾脏相关基因中风险等位基因的交流和意义,强调需要对肾病学家进行遗传培训,扩大遗传咨询服务,以及多学科合作,以优化测试解释和以患者为中心的护理。增加遗传数据库中的祖先多样性对于改进风险评估和减少结果解释中的不确定性仍然至关重要。此外,有必要通过法律保护来解决有关遗传歧视的问题,以促进合乎道德地使用遗传信息。与风险沟通方面的专家合作并使社区成员参与,例如阿波罗计划联盟的社区咨询委员会,将有助于整合遗传和非遗传风险因素,以改善健康结果。展望未来,研究工作必须集中在阐明apol1相关的疾病机制、完善风险分层和开发靶向治疗上。实施创新的传播战略,包括具有文化能力的咨询、数字教育工具和标准化决策辅助工具,对于使遗传信息易于获取和可操作至关重要。通过解决这些挑战,医学界可以充分利用基因检测来推进个性化医疗,改善患者的治疗效果,并减少肾脏疾病治疗的差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Communicating Risk Alleles in Kidney Genes: Lessons from APOL1 and New Discoveries of Risk Alleles.

Effective communication of genetic risk alleles, particularly APOL1 renal risk variants, is essential for enhancing patient comprehension, guiding clinical decision-making, and ensuring equitable health care. This review explores the communication and implications of risk alleles in kidney-related genes, emphasizing the need for genetic training for nephrologists, expanded genetic counseling services, and multidisciplinary collaboration to optimize test interpretation and patient-centered care. Increasing ancestral diversity in genetic databases remains critical for refining risk assessments and minimizing uncertainty in result interpretation. Additionally, addressing concerns regarding genetic discrimination through legal protections is necessary to promote ethical use of genetic information. Collaborating with experts in risk communication and engaging community members, as exemplified by the APOLLO Consortium's Community Advisory Council, will aid in integrating genetic and nongenetic risk factors to improve health outcomes. Moving forward, research efforts must focus on elucidating APOL1-associated disease mechanisms, refining risk stratification, and developing targeted therapeutics. Implementing innovative communication strategies, including culturally competent counseling, digital education tools, and standardized decision aids, will be vital in making genetic information both accessible and actionable. By addressing these challenges, the medical community can fully leverage genetic testing to advance personalized medicine, improve patient outcomes, and reduce disparities in kidney disease care.

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来源期刊
Seminars in nephrology
Seminars in nephrology 医学-泌尿学与肾脏学
CiteScore
5.60
自引率
0.00%
发文量
27
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.
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