Nearly 350 million people worldwide are affected by a rare disease (RD) and ~80% of RDs have a genetic type, underscoring the need for access to reliable genomics education. Patient assistance in resource development can help ensure content is appropriate. The aim of this study was to define the needs and practical usage of the RD community to inform the scope and content of an online genetic course targeted toward the entire RD ecosystem. A high‐level online survey (OS) was disseminated to 586 RD patients and family members/caregivers. A total of 251 individuals responded to the OS. Eight respondents were invited to participate in a follow‐up focus group (FG). Nearly 87% of OS respondents have made efforts previously to learn more about genetics and 95.6% indicated a current interest in genetic education. Navigating healthcare systems, information sharing, and advocacy support were driving factors for this desire. Respondents indicated difficulty finding information on gene function, genetic testing, disease pathogenesis, and scientific advances. FG outcomes dove deeper into psychological needs including reducing emotional burden, alleviating fear of the unknown and seeking hope. Research identified high levels of interest in genetic education across all stages of the RD journey. Key themes identified in this study may help guide genetic counselors as they create their own patient and family‐facing content.

中文翻译：

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了解受罕见疾病影响者的基因学习需求。

全球将近3.5亿人受到稀有疾病（RD）的影响，约80％的RD具有遗传类型，这突出说明了接受可靠的基因组学教育的必要性。在资源开发方面的患者协助可以帮助确保内容适当。这项研究的目的是定义RD社区的需求和实际用途，以指导针对整个RD生态系统的在线遗传课程的范围和内容。一项高水平的在线调查（OS）已分发给586名RD患者及其家庭成员/护理人员。共有251个人对操作系统进行了响应。邀请了八名受访者参加后续焦点小组（FG）。约有87％的OS受访者此前曾做出努力以更多地了解遗传学，而95.6％的受访者表示当前对遗传教育感兴趣。导航医疗系统，信息共享和倡导支持是实现这一愿望的驱动因素。受访者表示难以找到有关基因功能，基因检测，疾病发病机理和科学进展的信息。FG的结果深入了心理需求，包括减轻情绪负担，减轻对未知事物的恐惧和寻求希望。研究发现，在RD旅程的所有阶段中，人们对基因教育的兴趣很高。本研究确定的关键主题可能有助于指导遗传咨询师创建自己的患者和面向家庭的内容。FG的结果深入了心理需求，包括减轻情绪负担，减轻对未知事物的恐惧和寻求希望。研究发现，在RD旅程的所有阶段中，人们对基因教育的兴趣很高。本研究确定的关键主题可能有助于指导遗传咨询师创建自己的患者和面向家庭的内容。FG的结果深入了心理需求，包括减轻情绪负担，减轻对未知事物的恐惧和寻求希望。研究发现，在RD旅程的所有阶段中，人们对基因教育的兴趣很高。本研究确定的关键主题可能有助于指导遗传咨询师创建自己的患者和面向家庭的内容。