What kind of information is requested by patients and families with genetic disorders? The analysis of an online patient community in South Korea

Background: 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. Methods: 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. Results: 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. Conclusion: 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.