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提供远程遗传学服务:最佳实践回顾与综合

Delivering Telegenetics Services: Review and Synthesis of Best Practices.

作者信息

Flannery David, Alverson Dale, Greene Carol, Krupsinksi Elizabeth, Mann Sylvia, Terry Alissa, Thomas Janet, Lyon Megan, Singh Rani, Dean Lori Williamson

机构信息

Division of Medical Genetics and Genomics, Medical Specialties Institute Cleveland Clinic, Cleveland, Ohio, USA.

Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, USA.

出版信息

Telemed J E Health. 2024 Aug;30(8):e2232-e2239. doi: 10.1089/tmj.2024.0110. Epub 2024 Jun 25.

DOI:10.1089/tmj.2024.0110
PMID:38916873
Abstract

Before the COVID-19 public health emergency, few genetics providers used telehealth. As a response to this, many genetics providers began conducting telehealth care, referred to as telegenetics, usually with guidance from their institutions but without specific guidance related to the uniqueness of genetic services. The Telegenetics Workgroup of the National Coordinating Center for Regional Genetics Networks convened a panel of experts in the fields of telemedicine, genetics, and genomics to review the existing literature on telegenetics and synthesize best operating practices for medical geneticists, genetic counselors, and metabolic dietitians providing telegenetics services. The group searched PubMed using the terms "telegenetics," "telemedicine + genetics," and "telehealth + genetics." The group also reviewed the Northeast Telehealth Resource Center's telegenetics webliography. Websites were searched, including the American Telemedicine Association's website, Center for Connected Health Policy, and National Telehealth Resource Center for position statements, standards documents, and guidelines. The group met frequently by videoconference and discussed the literature, and using expert consensus, the group determined best practices in providing telegenetics services. These telegenetics best practices cover important aspects of telegenetics services, including, but not limited to, ongoing delivery of telegenetics services, use of special technology, legal and regulatory requirements, and considerations regarding special settings and circumstances in which telegenetics may be conducted. Recognizing the growing use of telegenetics and a future in which telegenetics continues to be part of the regular practice of genetics, this guide informs genetics providers of best practices for delivering telegenetics services to patients.

摘要

在新型冠状病毒肺炎公共卫生紧急事件之前,很少有遗传学服务提供者使用远程医疗。作为对此的回应,许多遗传学服务提供者开始开展远程医疗护理,即远程遗传学,通常是在其机构的指导下进行,但没有与遗传服务独特性相关的具体指导。区域遗传学网络国家协调中心的远程遗传学工作组召集了一个由远程医疗、遗传学和基因组学领域专家组成的小组,以审查关于远程遗传学的现有文献,并为提供远程遗传学服务的医学遗传学家、遗传咨询师和代谢营养师总结最佳操作规范。该小组使用 “远程遗传学”、“远程医疗 + 遗传学” 和 “远程健康 + 遗传学” 等术语在PubMed上进行搜索。该小组还审查了东北远程医疗资源中心的远程遗传学网络文献目录。搜索了一些网站,包括美国远程医疗协会网站、互联健康政策中心和国家远程医疗资源中心,以查找立场声明、标准文件和指南。该小组通过视频会议频繁会面,讨论文献,并通过专家共识确定了提供远程遗传学服务的最佳实践。这些远程遗传学最佳实践涵盖了远程遗传学服务的重要方面,包括但不限于持续提供远程遗传学服务、特殊技术的使用、法律和监管要求,以及关于可能开展远程遗传学的特殊环境和情况的考虑。鉴于远程遗传学的使用日益增加以及远程遗传学在未来仍将是遗传学常规实践的一部分,本指南向遗传学服务提供者介绍了为患者提供远程遗传学服务的最佳实践。

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