Telehealth options, such as telephone counseling or videoconferencing, for service delivery in genetic counseling are becoming more widely accepted. However, until now, there has not been a systematic review of the literature focused specifically on genetic counseling outcomes for telehealth. We performed a systematic evidence review to compare telehealth genetic counseling (THGC), including videoconferencing and telephone counseling, across specialties to in-person genetic counseling (IPGC) for a range of outcomes specific to patient and provider experiences and access to care. Several biomedical databases were queried up to January 11, 2021, to identify original research evaluating THGC. Through this search, 42 articles met the inclusion criteria including 13 randomized controlled trials and 29 non-randomized observational studies encompassing 13,901 patients. Most included studies focused only on cancer genetic counseling; however, adult, pediatric, and prenatal specialties were also represented. The majority of studies evaluated patient and/or access to care outcomes. Though most studies reported high patient satisfaction with THGC, as well as comparable rates of trust and rapport, confidence in privacy, health behavior changes, and psychosocial outcomes, few represented diverse populations. Data of provider experiences were limited and varied with more disadvantages noted compared with patient experiences, particularly in studies involving telephone genetic counseling. Studies consistently reported a decrease in the patients’ costs and time required for travel when patients are seen via THGC compared to IPGC with a similar reduction in costs to the health system. Overall, results from our evidence synthesis suggest THGC is non-inferior or comparable to IPGC across many domains, even considering that many of the studies included in this review were conducted with telehealth systems, notably videoconferencing, that were less robust and reliable than what is available today. There are notable limitations within this body of literature, leading to potential uncertainty in the generalizability of our analysis. We outline several recommendations for future studies.

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用于遗传咨询的远程医疗：系统证据审查

用于提供遗传咨询服务的远程医疗选项，例如电话咨询或视频会议，正越来越被广泛接受。然而，直到现在，还没有对专门针对远程医疗遗传咨询结果的文献进行系统审查。我们进行了系统的证据审查，以比较跨专业的远程医疗遗传咨询 (THGC)（包括视频会议和电话咨询）与面对面遗传咨询 (IPGC) 的一系列特定于患者和提供者体验以及获得护理的结果。查询了截至 2021 年 1 月 11 日的多个生物医学数据库，以确定评估 THGC 的原始研究。通过这次搜索，42 篇文章符合纳入标准，包括 13 项随机对照试验和 29 项非随机观察性研究，涉及 13,901 名患者。大多数纳入的研究仅关注癌症遗传咨询；然而，成人、儿科和产前专科也有代表。大多数研究评估了患者和/或获得护理结果的机会。尽管大多数研究报告了患者对 THGC 的高满意度，以及可比的信任和融洽率、对隐私的信心、健康行为变化和社会心理结果，但很少有代表不同人群的研究。与患者体验相比，提供者体验的数据有限且变化多端，尤其是在涉及电话遗传咨询的研究中。研究一致报告称，与 IPGC 相比，通过 THGC 就诊的患者成本和旅行所需的时间减少，医疗系统的成本也有类似的降低。总体而言，我们的证据综合结果表明 THGC 在许多领域不劣于或与 IPGC 相当，即使考虑到本综述中包含的许多研究是使用远程医疗系统（尤其是视频会议）进行的，这些系统的稳健性和可靠性不如今天可用。这一系列文献存在明显的局限性，导致我们分析的普遍性存在潜在的不确定性。我们为未来的研究概述了几项建议。我们的证据综合结果表明 THGC 在许多领域不劣于或与 IPGC 相当，即使考虑到本综述中包含的许多研究是使用远程医疗系统进行的，尤其是视频会议，这些系统不如当今可用的强大和可靠. 这一系列文献存在明显的局限性，导致我们分析的普遍性存在潜在的不确定性。我们为未来的研究概述了几项建议。我们的证据综合结果表明 THGC 在许多领域不劣于或与 IPGC 相当，即使考虑到本综述中包含的许多研究是使用远程医疗系统进行的，尤其是视频会议，这些系统不如当今可用的强大和可靠. 这一系列文献存在明显的局限性，导致我们分析的普遍性存在潜在的不确定性。我们为未来的研究概述了几项建议。导致我们分析的普遍性存在潜在的不确定性。我们为未来的研究概述了几项建议。导致我们分析的普遍性存在潜在的不确定性。我们为未来的研究概述了几项建议。