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

IF 1.8 Q4 GENETICS & HEREDITY

Journal of Community Genetics Pub Date : 2025-08-22 DOI:10.1007/s12687-025-00827-x

Su-A Lee, Sholhui Park, Min-Kyung So, Hae-Sun Chung, Hae Soon Kim, Arang Kim, Jungwon Huh

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引用次数: 0

Abstract

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.

查看原文本刊更多论文

遗传疾病患者和家属需要什么样的信息？：韩国在线患者社区分析。

背景：遗传咨询是必不可少的患者和家庭与遗传疾病，提供准确的信息和支持明智的决定。然而，在一些国家，获得咨询服务的机会有限，这可能导致困惑和焦虑，促使许多人在网络社区寻求信息。本研究分析了来自韩国在线社区的用户生成问题，以了解遗传疾病患者和家庭的具体信息需求。方法：分析了2022年11月27日至2023年12月23日Naver咖啡屋（https://cafe.naver.com/geneticdx）上122名会员提出的289个问题。定量分析用于确定问题的类型和频率，而定性分析用于检查详细内容。结果：查询频率最高的是疾病信息（28.4%），其次是遗传学知识（26.6%）、基因检测（26.3%）和其他（18.7%）。定性分析显示，患者和家属需要详细的长期进展和症状表现信息。许多人对基因检测结果中不确定意义变异（VUS）的含义表示困惑和焦虑。他们寻求真实的患者经验，深入的专业信息，并想知道如何有效地找到准确的信息。结论：本研究证明了为患者和家属提供专业和易于理解的信息的重要性，强调了建立一个组织良好的遗传咨询系统的必要性。为了支持患者及其家属，必须开发对患者友好的在线平台，并扩大获得遗传咨询服务的机会。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Community Genetics GENETICS & HEREDITY-

CiteScore

3.30

自引率

5.30%

发文量

期刊介绍： The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.