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《全国遗传咨询师协会基于证据的远程医疗遗传咨询实践指南》。

An evidence-based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling.

机构信息

Institute for Digital Health and Innovation, High Risk Pregnancy Program, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

Department of Veterans Affairs, Genomic Medicine Service, Salt Lake City, Utah, USA.

出版信息

J Genet Couns. 2023 Feb;32(1):4-17. doi: 10.1002/jgc4.1627. Epub 2022 Aug 30.

Abstract

There are currently no practice guidelines available for genetic counseling using telehealth modalities. This evidence-based practice guideline was developed in response to increasing use of alternative service delivery models for genetic counseling, specifically telephone and video-based genetic counseling (telehealth genetic counseling or THGC). A recent systematic evidence review (SER) compared outcomes of THGC with in-person genetic counseling and found that for the majority of studied outcomes, THGC was a non-inferior and comparable service delivery model. The SER results were used to develop this guideline. The current and anticipated future use of THGC, including the influence of the COVID-19 pandemic, provides the context for this guideline. Recommendation: The Telehealth Practice Guideline author workgroup conditionally recommends telehealth genetic counseling, either via telephone or video, as a delivery method for genetic counseling. Depending on factors unique to individual healthcare systems and provider and patient populations, THGC may be the only service delivery model available or may be utilized in addition to other service delivery models including in-person genetic counseling. The evidence shows large desirable effects, minor undesirable effects, and increased equity for patients when THGC is available. THGC may reduce or remove existing barriers to patient access to genetic counseling, such as medical conditions and/or disabilities that may affect a patient's ability to travel, inflexible work or school schedules, and lack of reliable transportation, finances, or dependent care. THGC is likely acceptable to key groups impacted by its use and is feasible to implement. Certain patient populations may require additional resources or encounter more barriers in using telemedicine services in general. For these populations, THGC can still be a valuable option if solutions are available.

摘要

目前尚无使用远程医疗模式进行遗传咨询的实践指南。本循证实践指南是为了回应遗传咨询替代服务提供模式(特别是电话和基于视频的遗传咨询(远程医疗遗传咨询或 THGC))的使用不断增加而制定的。最近的系统证据审查(SER)比较了 THGC 与面对面遗传咨询的结果,发现对于大多数研究结果,THGC 是一种非劣效且可比的服务提供模式。SER 的结果被用于制定本指南。THGC 的当前和预期未来使用,包括 COVID-19 大流行的影响,为该指南提供了背景。建议:远程医疗实践指南作者工作组有条件地推荐通过电话或视频进行远程医疗遗传咨询,作为遗传咨询的一种服务提供方式。根据个别医疗保健系统以及提供者和患者群体的独特因素,THGC 可能是唯一可用的服务提供模式,也可能与其他服务提供模式(包括面对面遗传咨询)一起使用。证据表明,当 THGC 可用时,患者可获得较大的理想效果、较小的不良影响和增加的公平性。THGC 可能会减少或消除患者获得遗传咨询的现有障碍,例如可能影响患者出行能力的医疗状况和/或残疾、灵活的工作或学校时间表、缺乏可靠的交通、财务或依赖护理。THGC 可能被使用其的关键群体接受,并且实施起来是可行的。某些患者群体在一般使用远程医疗服务时可能需要额外的资源或遇到更多的障碍。对于这些人群,如果有解决方案,THGC 仍然是一个有价值的选择。

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