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精准医学时代不断演变的心血管遗传咨询需求。

Evolving cardiovascular genetic counseling needs in the era of precision medicine.

作者信息

Morales Ana, Goehringer Jessica, Sanoudou Despina

机构信息

Translational Health Sciences Program, School of Medicine and Health Sciences, The George Washington University, Washington, DC, United States.

Department of Genomic Health, Geisinger, Danville, PA, United States.

出版信息

Front Cardiovasc Med. 2023 Jun 23;10:1161029. doi: 10.3389/fcvm.2023.1161029. eCollection 2023.

Abstract

In the era of Precision Medicine the approach to disease diagnosis, treatment, and prevention is being transformed across medical specialties, including Cardiology, and increasingly involves genomics approaches. The American Heart Association endorses genetic counseling as an essential component in the successful delivery of cardiovascular genetics care. However, with the dramatic increase in the number of available cardiogenetic tests, the demand, and the test result complexity, there is a need not only for a greater number of genetic counselors but more importantly, for highly specialized cardiovascular genetic counselors. Consequently, there is a pressing need for advanced cardiovascular genetic counseling training, along with innovative online services, telemedicine, and patient-facing digital tools, as the most effective way forward. The speed of implementation of these reforms will be of essence in the translation of scientific advancements into measurable benefits for patients with heritable cardiovascular disease and their families.

摘要

在精准医学时代,包括心脏病学在内的各个医学专科的疾病诊断、治疗和预防方法正在发生变革,并且越来越多地涉及基因组学方法。美国心脏协会认可遗传咨询是成功提供心血管遗传学护理的重要组成部分。然而,随着可用的心脏遗传学检测数量、需求以及检测结果复杂性的急剧增加,不仅需要更多的遗传咨询师,更重要的是,需要高度专业化的心血管遗传咨询师。因此,迫切需要先进的心血管遗传咨询培训,以及创新的在线服务、远程医疗和面向患者的数字工具,这是最有效的前进方式。这些改革的实施速度对于将科学进步转化为遗传性心血管疾病患者及其家庭的可衡量益处至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f70/10325680/9500e0452227/fcvm-10-1161029-g001.jpg

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