Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
BMJ Open. 2023 Jul 30;13(7):e071492. doi: 10.1136/bmjopen-2022-071492.
Individuals at an inherited high-risk of developing adult-onset disease, such as breast cancer, are rare in the population. These individuals require lifelong clinical, psychological and reproductive assistance. After a positive germline test result, clinical genetic services provide support and care coordination. However, ongoing systematic clinical follow-up programmes are uncommon. Digital health solutions offer efficient and sustainable ways to deliver affordable and equitable care. This paper outlines the codesign and development of a digital health platform to facilitate long-term clinical and psychological care, and foster self-efficacy in individuals with a genetic disease predisposition.
We adopt a mixed-methods approach for data gathering and analysis. Data collection is in two phases. In phase 1, 300 individuals with a high-risk genetic predisposition to adult disease will undertake an online survey to assess their use of digital health applications (apps). In phase 2, we will conduct focus groups with 40 individuals with a genetic predisposition to cardiac or cancer syndromes, and 30 clinicians from diverse specialities involved in their care. These focus groups will inform the platform's content, functionality and user interface design, as well as identify the barriers and enablers to the adoption and retention of the platform by all endusers. The focus groups will be audiorecorded and transcribed, and thematic and content data analysis will be undertaken by adopting the Unified Theory of Acceptance and Use of Technology. Descriptive statistics will be calculated from the survey data. Phase 3 will identify the core skillsets for a novel digital health coordinator role. Outcomes from phases 1 and 2 will inform development of the digital platform, which will be user-tested and optimised in phase 4.
This study was approved by the Peter MacCallum Human Research Ethics Committee (HREC/88892/PMCC). Results will be disseminated in academic forums, peer-reviewed publications and used to optimise clinical care.
在人群中，个体具有发生成年发病疾病（如乳腺癌）的遗传高风险的情况较为罕见。这些个体需要终生的临床、心理和生殖援助。在获得阳性种系测试结果后，临床遗传服务提供支持和护理协调。然而，持续的系统临床随访计划并不常见。数字健康解决方案提供了高效和可持续的方式来提供负担得起且公平的护理。本文概述了数字健康平台的共同设计和开发，以促进具有遗传疾病易感性个体的长期临床和心理护理，并增强他们的自我效能感。
我们采用混合方法进行数据收集和分析。数据收集分为两个阶段。在第 1 阶段，300 名具有成年疾病高遗传易感性的个体将进行在线调查，以评估他们对数字健康应用程序（apps）的使用情况。在第 2 阶段，我们将对 40 名具有心脏或癌症综合征遗传易感性的个体以及来自不同专业参与其护理的 30 名临床医生进行焦点小组讨论。这些焦点小组将为平台的内容、功能和用户界面设计提供信息，并确定所有最终用户采用和保留平台的障碍和促成因素。焦点小组将进行录音和转录，并通过采用统一接受和使用技术理论进行主题和内容数据分析。将从调查数据中计算出描述性统计数据。第 3 阶段将确定新型数字健康协调员角色的核心技能。第 1 阶段和第 2 阶段的结果将为数字平台的开发提供信息，该平台将在第 4 阶段进行用户测试和优化。
本研究获得了彼得麦卡伦人类研究伦理委员会（HREC/88892/PMCC）的批准。研究结果将在学术论坛、同行评议出版物中传播，并用于优化临床护理。
