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“遗传学导航器”的开发与可用性:一种针对成人及儿科临床遗传学服务的数字解决方案

The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.

作者信息

Saeedi Saumeh, Hirijkaka Daena, Clausen Marc, Luca Stephanie, Reble Emma, Kodida Rita, Assamad Daniel, Chad Lauren, Costain Gregory, Faghfoury Hanna, Silver Josh, Shastri-Estrada Serena, Smith Maureen, Hayeems Robin Z, Bombard Yvonne

机构信息

Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.

Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.

出版信息

Eur J Hum Genet. 2025 May 30. doi: 10.1038/s41431-025-01871-4.

Abstract

Clinical genetic services address diverse genetic testing needs, but there is no comprehensive digital solution to meet this variety. We aimed to develop and test the usability of the Genetics Navigator (GN), a platform designed to enhance genetic services for paediatric and adult patients. The GN prototype was created with input from a patient and clinician advisory board, informed by prior research. Usability testing involved genetics patients (N = 14), parents of paediatric patients (N = 4), and the general public (N = 10). Participants provided feedback using the 'think aloud' method when using the platform. We used the System Usability Scale (SUS) for quantitative evaluation. Qualitative data were coded by platform section, item, and identified key areas for improvement. Building on the Genetics Adviser platform, we added video and written content for various genetic conditions and patient groups, including pre-test education, counselling, decision support, history collection, post-test result disclosure, and management. Key feedback during rounds of usability testing emphasized the need for a supportive design, seamless workflow, and engaging experience of the tool. The tool was modified to reflect the feedback, and the GN achieved an average SUS score of 87.7 ± 10.9 (N = 28), indicating above-average usability. Future research will evaluate its clinical and cost-effectiveness in a randomized trial.

摘要

临床遗传服务可满足多样化的基因检测需求,但目前尚无全面的数字解决方案来满足这一多样性。我们旨在开发并测试基因导航器(GN)的可用性,该平台旨在增强针对儿科和成年患者的遗传服务。GN原型是在患者和临床医生咨询委员会的参与下创建的,并参考了先前的研究。可用性测试涉及基因患者(N = 14)、儿科患者的父母(N = 4)和普通公众(N = 10)。参与者在使用该平台时采用“出声思考”方法提供反馈。我们使用系统可用性量表(SUS)进行定量评估。定性数据按平台部分、项目进行编码,并确定关键改进领域。在基因顾问平台的基础上,我们为各种基因疾病和患者群体添加了视频和书面内容,包括检测前教育、咨询、决策支持、病史收集、检测后结果披露和管理。多轮可用性测试期间的关键反馈强调了该工具需要具备支持性设计、无缝工作流程和引人入胜的体验。该工具根据反馈进行了修改,GN的平均SUS得分为87.7±10.9(N = 28),表明其可用性高于平均水平。未来的研究将在随机试验中评估其临床和成本效益。

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