Introduction: The development of a family history (FH) questionnaire (FHQ) provides an insight into a patient’s familiarity of a trait and helps to identify individuals at increased risk of disease. A critical aspect of developing a new tool is exploring users’ experience. Objective: The objective of this study was to examine users’ experience, obstacles and challenges, and their views and concerns in the applicability of a new tool for determining genetic risk in Slovenia’s primary care. Methods: We used a qualitative approach. The participants completed a risk assessment software questionnaire that calculates users’ likelihood of developing familial diseases. Audio-taped semi-structured telephone interviews were conducted to evaluate their experience. There were 21 participants, and analyses using the constant comparative method were employed. Results: We identified 3 main themes: obstacles/key issues, suggestions for improvements, and coping. The participants were poorly satisfied with the clarity of instructions, technical usability problems, and issues with the entry of relatives’ data. They expressed satisfaction with some of the characteristics of the FHQ (e.g., straightforward and friendly format, easy entry, and comprehension). They suggested simpler language, that the disease risk should be targeted toward the disease, that the FHQ should include patient-specific recommendations, and that it should be part of the electronic medical records. When discussing what would they do with the results of the FHQ, the participants used different coping strategies: active (e.g., seeking information) or passive (e.g., avoidance). Discussion/Conclusion: User experience was shown to be a synthesis of obstacles, overcoming them with suggestions for improvements, and exploration of various coping mechanisms that may emerge from dealing with the stressor of “being at risk.”
Public Health Genomics

中文翻译：

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绘制用户在初级保健中使用家族史和遗传风险算法工具的体验

简介：家族史 (FH) 问卷 (FHQ) 的开发提供了对患者对特征的熟悉程度的洞察，并有助于识别疾病风险增加的个体。开发新工具的一个关键方面是探索用户体验。目标：本研究的目的是检查用户的体验、障碍和挑战，以及他们对确定斯洛文尼亚初级保健中遗传风险的新工具的适用性的看法和担忧。方法：我们使用了定性方法。参与者完成了一份风险评估软件问卷，用于计算用户患家族病的可能性。进行了录音半结构化电话采访以评估他们的经历。共有 21 名参与者，并采用了使用常数比较法的分析。结果：我们确定了 3 个主要主题：障碍/关键问题、改进建议和应对。参与者对说明的清晰度、技术可用性问题以及亲属数据输入问题的满意度很低。他们对 FHQ 的一些特点表示满意（例如，直接和友好的格式，易于进入和理解）。他们建议用更简单的语言，疾病风险应该针对疾病，FHQ 应该包括针对患者的建议，并且应该是电子病历的一部分。在讨论他们将如何处理 FHQ 的结果时，参与者使用了不同的应对策略：主动（例如，寻求信息）或被动（例如，回避）。讨论/结论：用户体验被证明是障碍的综合体，通过提出改进建议来克服它们，并探索在处理“处于危险中”的压力源时可能出现的各种应对机制。
公共卫生基因组学