Hall Deborah A, Rosenbaum Marc, Hawkins Jacob, Ouyang Bichun, Cooper Christa, Patel Neepa
Department of Neurological Sciences, Rush University Medical Center, Chicago, IL.
Neurol Clin Pract. 2025 Feb;15(1):e200394. doi: 10.1212/CPJ.0000000000200394. Epub 2024 Oct 25.
The purpose of the study was to determine the feasibility and patient satisfaction of telegenetic counseling, or counseling done by video, for Huntington disease (HD). Background: Genetic counseling is necessary for presymptomatic or symptomatic HD genetic testing, but the lack of access to counseling because of geography or expense is a critical gap for many patients. The hypothesis of this study was that there would be no difference in patient satisfaction between telegenetic counseling (tele-GC) or in-person counseling (in-person GC) for HD testing.
This was a prospective, randomized, unblinded study of either tele-GC or in-person GC for HD gene testing. Participants had standardized genetic counseling in the clinic or through a Health Insurance Portability and Accountability Act (HIPAA) appropriate telemedicine platform first and then crossed over. A study coordinator interviewed the participant using a telehealth survey after each encounter.
A total of 19 in-person GC and 15 tele-GC participants were included: 68% women, 41 ± 15 years, 80% White, 10% Hispanic, and +CAG repeat length = 45 ± 4.4 (n = 15) ( > 0.1). All participants were satisfied with their initial counseling experience when asked to rate on a scale of 1-10 (median 10/10, = 0.94). The majority of symptomatic HD participants (5/7) preferred in-person GC. The main advantage of tele-GC was reduction in travel time for both in-person GC first (n = 16) and tele-GC first (n = 11) participants. Technical challenges were encountered in many of the participants. Visually seeing the genetic counselor improved understanding for in-person GC (n = 10) and tele-GC (n = 8) participants. Participants felt they were able to pick up on emotional cues (n = 33) and felt comfortable asking questions (n = 34) using the tele-GC format.
Telegenetic counseling is a feasible option for HD gene testing, if patients are able to overcome technical issues. Having a video visit with both audio and video components, rather than an audio-only phone call, should be considered when using telegenetic counseling for HD. Finally, in-person counseling may be preferred to increase understanding of the genetic counseling materials in patients, especially in motor manifest HD.
本研究旨在确定远程遗传咨询（即通过视频进行的咨询）用于亨廷顿舞蹈病（HD）的可行性及患者满意度。背景：对于有症状前或有症状的HD基因检测而言，遗传咨询是必要的，但许多患者因地理位置或费用问题而无法获得咨询服务，这是一个关键差距。本研究的假设是，HD检测的远程遗传咨询（tele-GC）与面对面咨询（面对面GC）在患者满意度方面没有差异。
这是一项针对HD基因检测的远程GC或面对面GC的前瞻性、随机、非盲研究。参与者首先在诊所或通过符合《健康保险流通与责任法案》（HIPAA）的远程医疗平台接受标准化遗传咨询，然后进行交叉。每次咨询后，研究协调员使用远程健康调查对参与者进行访谈。
共纳入19名面对面GC参与者和15名远程GC参与者：68%为女性，年龄41±15岁，80%为白人，10%为西班牙裔，+CAG重复长度=45±4.4（n = 15）（>0.1）。当被要求按1至10分进行评分时，所有参与者对其初次咨询体验都感到满意（中位数为10/10，=0.94）。大多数有症状的HD参与者（5/7）更喜欢面对面GC。远程GC的主要优势在于，对于先进行面对面GC（n = 16）和先进行远程GC（n = 11）的参与者而言，都减少了出行时间。许多参与者遇到了技术难题。对于面对面GC（n = 10）和远程GC（n = 8）的参与者来说，能看到遗传咨询师有助于提高理解。参与者感觉他们能够捕捉到情绪线索（n = 33），并且使用远程GC形式提问时感到自在（n = 34）。
如果患者能够克服技术问题，远程遗传咨询是HD基因检测的一个可行选择。使用远程遗传咨询进行HD检测时，应考虑采用包含音频和视频组件的视频问诊，而非仅音频的电话问诊。最后，对于增进患者对遗传咨询材料的理解而言，尤其是对有运动症状的HD患者，面对面咨询可能更受青睐。
