Paul Rachel A, Babaian Nareen, Brzozowski Morgan, Baldwin Aaron, Johnson Kelsey, Azage Meron, Bardakjian Tanya, Tropea Thomas F, Dratch Laynie
Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
J Genet Couns. 2025 Jun;34(3):e70040. doi: 10.1002/jgc4.70040.
At our center, we offer clinical genetic counseling (GC) visits for adults with a personal and/or family history of neurologic disease. Here, we report patient experience and outcomes from different visit modalities (e.g., in person, videoconferencing, and telephone) in clinical neurogenetics. Individuals who completed a GC visit in the Neurology Department at the University of Pennsylvania between January 2021 and January 2023 were surveyed after an initial evaluation and/or a disclosure visit. Questionnaires included items validated to measure satisfaction with GC, satisfaction with telehealth, and patient empowerment. Two hundred and ninety-nine individuals submitted 347 survey responses, representing a response rate of 42% (initial) and 31% (disclosure) for each of the surveys. Most responders completed their initial visit in person, while most completed their disclosure visit remotely via videoconferencing or telephone. Patient satisfaction with GC did not differ between visit modalities. For initial visits, telehealth satisfaction was higher for visits regarding the consideration of predictive testing compared to diagnostic testing. For follow-up visits, telehealth satisfaction was higher for videoconferencing compared to telephone disclosure. A majority of responders (69%-78%) reported interest in utilizing telehealth in the future if their genetic counselor thought it was appropriate and a majority of responders (65%-79%) indicated a preference for a combination of in-person and telehealth visits. Individuals who completed an initial visit in person were more likely to decline interest in future telehealth use. This study allowed for some comparison between visit modalities, but more research is needed to understand individuals' preferences and guide recommendations for GC service delivery.
在我们中心，我们为有个人和/或家族神经疾病病史的成年人提供临床遗传咨询（GC）就诊服务。在此，我们报告临床神经遗传学中不同就诊方式（如面对面、视频会议和电话）的患者体验及结果。对2021年1月至2023年1月期间在宾夕法尼亚大学神经科完成GC就诊的个体，在初次评估和/或信息披露就诊后进行了调查。问卷包括经验证可测量对GC满意度、对远程医疗满意度以及患者赋权情况的项目。299名个体提交了347份调查回复，每次调查的回复率分别为42%（初次）和31%（信息披露）。大多数回复者初次就诊采用面对面方式，而大多数信息披露就诊是通过视频会议或电话远程完成的。不同就诊方式下患者对GC的满意度无差异。对于初次就诊，与诊断性检测相关的就诊中，远程医疗满意度在考虑预测性检测方面更高。对于随访就诊，视频会议的远程医疗满意度高于电话信息披露。大多数回复者（69%-78%）表示，如果他们的遗传咨询师认为合适，未来有兴趣使用远程医疗，并且大多数回复者（65%-79%）倾向于面对面就诊和远程医疗就诊相结合。亲自完成初次就诊的个体更有可能表示未来对使用远程医疗不感兴趣。本研究对不同就诊方式进行了一些比较，但还需要更多研究来了解个体偏好并指导GC服务提供的建议。
