Suppr超能文献

肾病中的遗传咨询:一种观点。

Genetic Counseling in Kidney Disease: A Perspective.

作者信息

Stein Quinn, Westemeyer Maggie, Darwish Tarek, Pitman Tessa, Hager Megan, Tabriziani Hossein, Curry Kathryn, Collett Kathleen, Raible Darbey, Hendricks Emily

机构信息

Natera Inc, Austin, TX.

Kansas City Kidney Specialists, Overland Park, KS.

出版信息

Kidney Med. 2023 May 14;5(7):100668. doi: 10.1016/j.xkme.2023.100668. eCollection 2023 Jul.

Abstract

As genetic testing is increasingly integrated into nephrology practice there is a growing need for partnership with genetic experts. Genetic counselors are ideally suited to fill this role. The value of genetic counseling is born out of the clinical value of genetic test results against the backdrop of the complexity of genetic testing. Genetic counselors who specialize in nephrology are trained to understand and explain the potential effects of genes on kidney disease, which can enable patients to make informed decisions about proceeding with genetic testing, navigating variants of uncertain significance, educating on extrarenal features of hereditary kidney disease, facilitating cascade testing, providing post-test education about testing results, and assisting with family planning. Genetic counselors can partner with the nephrologist and provide the knowledge needed to maximize the use of genetic testing for patients for nephrology consultation. Genetic counseling is more than an element or extension of genetic testing; it is a dynamic, shared conversation between the patient and the genetic counselor where concerns, sentiments, information, and education are exchanged, and value-based decision making is facilitated.

摘要

随着基因检测越来越多地融入肾脏病学实践,与基因专家合作的需求日益增长。基因咨询师非常适合填补这一角色。基因咨询的价值源于基因检测结果在基因检测复杂性背景下的临床价值。专门从事肾脏病学的基因咨询师经过培训,能够理解并解释基因对肾脏疾病的潜在影响,这可以使患者在决定是否进行基因检测、解读意义不确定的变异、了解遗传性肾脏疾病的肾外特征、推动级联检测、提供检测结果的检测后教育以及协助计划生育等方面做出明智的决策。基因咨询师可以与肾病学家合作,提供充分利用基因检测为肾病咨询患者所需的知识。基因咨询不仅仅是基因检测的一个要素或延伸;它是患者与基因咨询师之间动态的、共享的对话,在这个过程中,双方交流关切、情感、信息和知识,并促进基于价值观的决策制定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82af/10276256/c82964687600/gr1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验