Abstract：
While digital tools, such as the Internet, smartphones, and social media, are an important part of modern society, little is known about the specific role they play in the healthcare management of individuals and caregivers affected by rare disease. Collectively, rare diseases directly affect up to 10% of the global population, suggesting that a significant number of individuals might benefit from the use of digital tools. The purpose of this qualitative interview-based study was to explore: (a) the ways in which digital tools help the rare disease community; (b) the healthcare gaps not addressed by current digital tools; and (c) recommended digital tool features. Individuals and caregivers affected by rare disease who were comfortable using a smartphone and at least 18 years old were eligible to participate. We recruited from rare disease organizations using purposive sampling in order to achieve a diverse and information rich sample. Interviews took place over Zoom and reflexive thematic analysis was utilized to conceptualize themes. Eight semistructured interviews took place with four individuals and four caregivers. Three themes were conceptualized which elucidated key aspects of how digital tools were utilized in disease management: (1) digital tools should lessen the burden of managing a rare disease condition; (2) digital tools should foster community building and promote trust; and (3) digital tools should provide trusted and personalized information to understand the condition and what the future may hold. These results suggest that digital tools play a central role in the lives of individuals with rare disease and their caregivers. Digital tools that centralize trustworthy information, and that bring the relevant community together to interact and promote trust are needed. Genetic counselors can consider these ideal attributes of digital tools when providing resources to individuals and caretakers of rare disease.
摘要：
虽然数字工具，比如互联网，智能手机,和社交媒体,是现代社会的重要组成部分，人们对它们在受罕见疾病影响的个人和护理人员的医疗保健管理中的具体作用知之甚少。总的来说，罕见疾病直接影响全球人口的10％，这表明相当多的人可能会从数字工具的使用中受益。这项基于访谈的定性研究的目的是探索：（a）数字工具帮助罕见疾病社区的方式；（b）当前数字工具无法解决的医疗保健差距；（c）推荐的数字工具功能。受罕见疾病影响的个人和护理人员使用智能手机舒适且至少18岁有资格参加。我们使用目的抽样从罕见疾病组织中招募，以实现多样化和信息丰富的样本。对Zoom进行了采访，并利用了反身主题分析来概念化主题。对四个人和四个护理人员进行了八次半结构化访谈。概念化了三个主题，阐明了如何在疾病管理中使用数字工具的关键方面：（1）数字工具应减轻管理罕见疾病的负担；（2）数字工具应促进社区建设并促进信任；（3）数字工具应提供可信和个性化的信息，以了解病情和未来可能会发生什么。这些结果表明，数字工具在罕见疾病患者及其护理人员的生活中起着核心作用。集中可信赖信息的数字工具，需要将相关社区聚集在一起进行互动和促进信任。遗传咨询师在为个人和罕见疾病的看护人提供资源时，可以考虑数字工具的这些理想属性。
