Patil Rohan, Ashraf Fatima, Abu Dayeh Samer, Prakash Siddharth K
McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, United States.
McWilliams School of Bioinformatics, University of Texas Health Science Center at Houston, Houston, TX, United States.
JMIRx Med. 2024 Oct 8;5:e55903. doi: 10.2196/55903.
Genetic testing can determine familial and personal risks for heritable thoracic aortic aneurysms and dissections (TAD). The 2022 American College of Cardiology/American Heart Association guidelines for TAD recommend management decisions based on the specific gene mutation. However, many clinicians lack sufficient comfort or insight to integrate genetic information into clinical practice.
We therefore developed the Genomic Medicine Guidance (GMG) application, an interactive point-of-care tool to inform clinicians and patients about TAD diagnosis, treatment, and surveillance. GMG is a REDCap-based application that combines publicly available genetic data and clinical recommendations based on the TAD guidelines into one translational education tool.
TAD genetic information in GMG was sourced from the Montalcino Aortic Consortium, a worldwide collaboration of TAD centers of excellence, and the National Institutes of Health genetic repositories ClinVar and ClinGen.
The application streamlines data on the 13 most frequently mutated TAD genes with 2286 unique pathogenic mutations that cause TAD so that users receive comprehensive recommendations for diagnostic testing, imaging, surveillance, medical therapy, and preventative surgical repair, as well as guidance for exercise safety and management during pregnancy. The application output can be displayed in a clinician view or exported as an informative pamphlet in a patient-friendly format.
The overall goal of the GMG application is to make genomic medicine more accessible to clinicians and patients while serving as a unifying platform for research. We anticipate that these features will be catalysts for collaborative projects aiming to understand the spectrum of genetic variants contributing to TAD.
基因检测可确定遗传性胸主动脉瘤和夹层（TAD）的家族和个人风险。2022年美国心脏病学会/美国心脏协会的TAD指南建议根据特定基因突变做出管理决策。然而，许多临床医生在将基因信息整合到临床实践中时缺乏足够的信心或见解。
因此，我们开发了基因组医学指南（GMG）应用程序，这是一种交互式床边工具，用于向临床医生和患者提供有关TAD诊断、治疗和监测的信息。GMG是一个基于REDCap的应用程序，它将公开可用的基因数据和基于TAD指南的临床建议整合到一个转化教育工具中。
GMG中的TAD基因信息来自蒙塔尔奇诺主动脉联盟（一个全球卓越TAD中心的合作组织）以及美国国立卫生研究院的基因库ClinVar和ClinGen。
该应用程序简化了13个最常发生突变的TAD基因的数据，这些基因有2286个导致TAD的独特致病突变，以便用户获得关于诊断测试、成像、监测、药物治疗和预防性手术修复的全面建议，以及关于运动安全和孕期管理的指导。应用程序的输出可以以临床医生视图显示，或以患者友好的格式导出为信息手册。
GMG应用程序的总体目标是使临床医生和患者更容易获得基因组医学，同时作为一个统一的研究平台。我们预计这些功能将成为旨在了解导致TAD的基因变异谱的合作项目的催化剂。
