Lee Su-A, Park Sholhui, So Min-Kyung, Chung Hae-Sun, Kim Hae Soon, Kim Arang, Huh Jungwon
Department of Genetic Counseling, Graduate School, Ewha Womans University College of Medicine, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea.
Department of Laboratory Medicine, College of Medicine, Ewha Womans University, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea.
J Community Genet. 2025 Aug 22. doi: 10.1007/s12687-025-00827-x.
Genetic counseling is essential for patients and families with genetic disorders, providing accurate information and supporting informed decisions. However, limited access to counseling services in some countries can lead to confusion and anxiety, prompting many to seek information in online communities. This study analyzes user-generated questions from an online community in South Korea to understand the specific information needs of patients and families with genetic disorders.
This study analyzed 289 questions posted by 122 members on the Naver cafe < All About Genetic Disorders>( https://cafe.naver.com/geneticdx ) between November 27, 2022, and December 23, 2023. Quantitative analysis was performed to identify the types and frequencies of questions, while qualitative analysis examined detailed content.
The most frequently requested information was about disease information (28.4%), followed by genetics knowledge (26.6%), genetic testing (26.3%), and other topics (18.7%). Qualitative analysis revealed that patients and families needed detailed information about long-term progression and symptom manifestation. Many expressed confusion and anxiety regarding the meaning of variants of uncertain significance (VUS) in genetic testing results. They sought real-life patient experiences, in-depth professional informations, and wanted to know how to efficiently find accurate information.
This study demonstrated the importance of providing patients and families with professional and easily understandable information, highlighting the necessity for a well-organized genetic counseling system. To support patients and their families, it is essential to develop patient-friendly online platforms and expand access to genetic counseling services.
遗传咨询对于患有遗传疾病的患者及其家庭至关重要，它能提供准确信息并支持做出明智决策。然而，一些国家遗传咨询服务的可及性有限，可能导致困惑和焦虑，促使许多人在在线社区寻求信息。本研究分析了韩国一个在线社区用户提出的问题，以了解患有遗传疾病的患者及其家庭的具体信息需求。
本研究分析了2022年11月27日至2023年12月23日期间122名成员在Naver咖啡馆<遗传疾病全知道>(https://cafe.naver.com/geneticdx)上发布的289个问题。进行了定量分析以确定问题的类型和频率，同时进行定性分析以检查详细内容。
最常被请求的信息是关于疾病信息(28.4%)，其次是遗传学知识(26.6%)、基因检测(26.3%)和其他主题(18.7%)。定性分析表明，患者及其家庭需要关于疾病长期进展和症状表现的详细信息。许多人对基因检测结果中意义未明变异(VUS)的含义表示困惑和焦虑。他们寻求现实生活中的患者经历、深入的专业信息，并想知道如何高效地找到准确信息。
本研究证明了为患者及其家庭提供专业且易于理解的信息的重要性，突出了建立完善的遗传咨询系统的必要性。为了支持患者及其家庭，开发方便患者的在线平台并扩大遗传咨询服务的可及性至关重要。
