Genetic counseling and testing for hereditary hemorrhagic telangiectasia,Clinical Genetics

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Genetic counseling and testing for hereditary hemorrhagic telangiectasia
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-08-20 , DOI: 10.1111/cge.14050
Shravika Lam _{1,

2} , Kelsey S Guthrie ₃ , Muhammad A Latif ₁ , Clifford R Weiss ₁

Affiliation

Genetic counseling is an important means of identifying a patient's genetic risk of hereditary hemorrhagic telangiectasia (HHT) and assisting patients in making informed decisions about their health. With an increase in understanding of the genetic mechanisms underlying HHT over the last decade, genetic counseling is increasingly being incorporated into the care of patients affected by HHT. In addition to refining the diagnosis of symptomatic patients, genetic testing can help to distinguish asymptomatic, at-risk patients from those who are unaffected by HHT. The purpose of this review article is to summarize the current knowledge regarding the role of genetic counseling and genetic testing in identifying and managing HHT in at-risk populations. This article also reviews the guidelines, outcomes, risks, and challenges of genetic counseling and testing for HHT in various patient populations, and provides an algorithm for the use of genetic counseling in symptomatic and asymptomatic patients.

中文翻译：

遗传性出血性毛细血管扩张症的遗传咨询和检测

遗传咨询是识别患者遗传性出血性毛细血管扩张症 (HHT) 的遗传风险并帮助患者就其健康做出明智决策的重要手段。在过去十年中，随着对 HHT 潜在遗传机制的了解不断增加，遗传咨询越来越多地被纳入受 HHT 影响的患者的护理中。除了改进有症状患者的诊断外，基因检测还可以帮助区分无症状、有风险的患者和未受 HHT 影响的患者。这篇评论文章的目的是总结有关遗传咨询和基因检测在识别和管理高危人群 HHT 中作用的当前知识。本文还回顾了指南、结果、风险、

更新日期：2021-08-20

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