背景:家族性高胆固醇血症,一种普遍的遗传疾病,在美国仍然严重未被诊断。级联测试,其中被诊断为家族性高胆固醇血症的个体-先证者-与他们的家庭成员联系,以告知他们患家族性高胆固醇血症的风险,在美国的摄入量很低。需要数字工具来促进家族性高胆固醇血症先证者及其家庭成员之间的交流,并促进家族性高胆固醇血症相关风险信息的共享。
目的:我们旨在创建和评估一种基于网络的工具,旨在增强家族性高胆固醇血症的家族性沟通并促进级联检测。
方法:使用混合1型实施科学框架和以用户为中心的设计过程来开发基于网络的交互式工具FHFamilyShare,该工具使家族性高胆固醇血症先证者能够与有风险的亲属交流有关其家族性高胆固醇血症诊断的信息。Probands还可以使用该工具绘制家庭谱系,并通过教育模块和精选的知识资源了解有关家族性高胆固醇血症的更多信息。在工具的设计和开发过程中考虑了可用性准则和标准。最初的原型经历了一次认知演练,随后对包括遗传咨询师和家族性高胆固醇血症患者在内的主要利益相关者进行可用性测试.参与者使用大声思考技术导航原型,他们的反馈被用来改进工具的功能。
结果:从认知演练中出现的关键主题是设计,格式,导航,术语,说明,和学习能力。来自认知演练的专家反馈导致了基于Web的工具的重建,以使其与机构标准保持一致。遗传咨询师和家族性高胆固醇血症患者的可用性测试提供了对用户体验的见解,满意度和界面设计,并强调了为完善FHFamilyShare的功能而进行的具体修改。遗传咨询师和家族性高胆固醇血症患者建议在基于网络的工具中包含以下特征:(1)致信家庭成员电子邮件模板,(2)教育模块,(3)知识资源。调查显示,9名遗传咨询师中有6名(67%)发现FHFamilyShare中的信息非常容易找到,9名(56%)遗传咨询师中的5名发现信息非常容易理解;9名(56%)患者中的5名发现信息非常容易在网站上找到,9名患者中有7名(78%)发现信息非常容易理解。所有遗传咨询师和患者都表示,FHFamilyShare是值得回归的资源。
结论:FHFamilyShare促进了先证者与其亲属之间的沟通。一旦被告知,高危家庭成员可以选择寻求家族性高胆固醇血症的检测和治疗.
BACKGROUND: Familial hypercholesterolemia, a prevalent genetic disorder, remains significantly underdiagnosed in the United States. Cascade testing, wherein individuals diagnosed with familial hypercholesterolemia- probands-contact their family members to inform them of their risk for familial hypercholesterolemia, has low uptake in the United States. Digital tools are needed to facilitate communication between familial hypercholesterolemia probands and their family members and to promote sharing of familial hypercholesterolemia-related risk information.
OBJECTIVE: We aimed to create and evaluate a web-based tool designed to enhance familial communication and promote cascade testing for familial hypercholesterolemia.
METHODS: A hybrid type 1 implementation science framework and a user-centered design process were used to develop an interactive web-based tool-FH Family Share-that enables familial hypercholesterolemia probands to communicate information about their familial hypercholesterolemia diagnosis with at-risk relatives. Probands can also use the tool to draw a family pedigree and learn more about familial hypercholesterolemia through education modules and curated knowledge resources. Usability guidelines and standards were taken into account during the design and development of the tool. The initial prototype underwent a cognitive walkthrough, which was followed by usability testing with key stakeholders including genetic counselors and patients with familial hypercholesterolemia. Participants navigated the prototype using the think-aloud technique, and their feedback was used to refine features of the tool.
RESULTS: Key themes that emerged from the cognitive walkthrough were design, format, navigation, terminology, instructions, and learnability. Expert feedback from the cognitive walkthrough resulted in a rebuild of the web-based tool to align it with institutional standards. Usability testing with genetic counselors and patients with familial hypercholesterolemia provided insights on user experience, satisfaction and interface design and highlighted specific modifications that were made to refine the features of FH Family Share. Genetic counselors and patients with familial hypercholesterolemia suggested inclusion of the following features in the web-based tool: (1) a letter-to-family-member email template, (2) education modules, and (3) knowledge resources. Surveys revealed that 6 of 9 (67%) genetic counselors found information within FH Family Share very easy to find, and 5 of 9 (56%) genetic counselors found information very easy to understand; 5 of 9 (56%) patients found information very easy to find within the website, and 7 of 9 (78%) patients found information very easy to understand. All genetic counselors and patients indicated that FH Family Share was a resource worth returning to.
CONCLUSIONS: FH Family Share facilitates communication between probands and their relatives. Once informed, at-risk family members have the option to seek testing and treatment for familial hypercholesterolemia.