Finney Jessica, Fargas Verna, Gonzalez Tina, Taylor Natalie, Wakefield Claire E, Tucker Kathy, Turbitt Erin, Williams Rachel
Prince of Wales Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, New South Wales, Australia.
University of Technology Sydney UTS Graduate School of Health, Ultimo, New South Wales, Australia.
J Genet Couns. 2025 Apr;34(2):e1982. doi: 10.1002/jgc4.1982. Epub 2024 Oct 6.
The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemic. Recent telegenetics literature is mostly quantitative and not in the Australian context. A qualitative interview study was conducted to address this gap. This research investigated the experiences of patients and genetic counselors (GCs), enrolled in a randomized controlled trial, using telegenetics and telephone for cancer genetic counseling appointments. Twenty-eight semi-structured interviews with patients (n = 22) and GCs (n = 6) were conducted following patient randomization to either a telephone or telegenetics genetic counseling appointment. The interviews explored participant's experiences of telegenetics and compared DTP telegenetics with telephone and in-person delivery. Codebook thematic analysis was used to develop topic summaries from the data. Patient and GC participants noted positive experiences of telegenetics; with key benefits reported as reduced travel time, time and cost saving, ease, convenience, efficiency, and comfortability. Technical issues and privacy concerns were highlighted as potential disadvantages of telegenetics. All but one patient felt sufficiently emotionally supported while using telegenetics. Telegenetics has both benefits and limitations; however, generally, this cohort found telegenetics to be a suitable and acceptable mode of delivery for genetic counseling with many advantages over in-person or telephone appointments. Further studies should be conducted to provide evidence for the long-term implementation of telegenetics, regardless of any future COVID-19 pandemic lockdown restrictions.
在遗传咨询实践中,直接面向患者(DTP)的远程遗传学(通过视频会议提供的遗传学服务)需求迅速增长,尤其是自新冠疫情以来。近期关于远程遗传学的文献大多是定量研究,且并非基于澳大利亚的情况。本研究进行了一项定性访谈,以填补这一空白。该研究调查了参与一项随机对照试验的患者和遗传咨询师(GC)的经历,他们在癌症遗传咨询预约中使用了远程遗传学和电话方式。在患者被随机分配到电话或远程遗传学遗传咨询预约后,对患者(n = 22)和遗传咨询师(n = 6)进行了28次半结构化访谈。访谈探讨了参与者对远程遗传学的体验,并将DTP远程遗传学与电话及面对面服务进行了比较。使用编码本主题分析法从数据中得出主题总结。患者和遗传咨询师参与者指出了远程遗传学的积极体验;报告的主要益处包括减少出行时间、节省时间和成本、轻松、便利、高效和舒适。技术问题和隐私担忧被强调为远程遗传学的潜在缺点。除一名患者外,所有患者在使用远程遗传学时都感到获得了足够的情感支持。远程遗传学既有优点也有局限性;然而,总体而言,这一群体发现远程遗传学是遗传咨询的一种合适且可接受的服务方式,相对于面对面或电话预约有许多优势。应开展进一步研究,为远程遗传学的长期实施提供证据,无论未来新冠疫情封锁限制如何。