Yuen Jeanette, Fung Si Ming, Sia Chin Leong, Venkatramani Mallika, Shaw Tarryn, Courtney Eliza, Li Shao-Tzu, Chiang Jianbang, Tan Veronique Kiak-Mien, Tan Benita Kiat-Tee, Ngeow Joanne
Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.
Lee Kong Chian School of Medicine, Nanyang Technological University, 11 Mandalay Drive, Singapore, Singapore.
Hered Cancer Clin Pract. 2020 Oct 23;18:22. doi: 10.1186/s13053-020-00154-x. eCollection 2020.
Identification of one's status as a pathogenic variant carrier often marks the start of navigating challenging decisions related to cancer risk management and result disclosure. Carriers report unmet informational needs, but studies have yet to explore the specific aspects of and how best to fulfill these needs. This study aims to explore the informational needs of pathogenic variant carriers in Asia to inform for the design of educational materials to support risk management decision-making.
Semi-structured in-depth interviews were conducted with two male and 22 female English-speaking pathogenic variant carriers, aged 29-66 years, identified through the Cancer Genetics Service at the National Cancer Centre Singapore. A grounded theory approach with thematic analysis was undertaken to extract dominant themes.
Four themes were identified: (i) proactive online information seeking behaviors (ii) personalized informational needs; (iii) challenges in sharing the results; and (iv) lack of genetic awareness.
Participants highlight challenges with sharing their result arising from significant post-result informational needs, which have manifested into proactive online information-seeking behaviors. They desire for an online source of information, where content is personalized, reliable and local. Participants foresee the potential of an online resource to raise genetic awareness. This suggests the use of a culturally tailored online-based genetics resource, to promote result disclosure, empower risk-management decisions and raise genetic literacy rates.
accompanies this paper at 10.1186/s13053-020-00154-x.
确定自己为致病基因变异携带者的身份往往标志着开始应对与癌症风险管理和结果披露相关的具有挑战性的决策。携带者报告了未得到满足的信息需求，但研究尚未探索这些需求的具体方面以及如何最好地满足这些需求。本研究旨在探索亚洲致病基因变异携带者的信息需求，为设计支持风险管理决策的教育材料提供参考。
对通过新加坡国立癌症中心癌症遗传学服务机构确定的24名说英语的致病基因变异携带者进行了半结构化深度访谈，其中包括2名男性和22名女性，年龄在29至66岁之间。采用扎根理论方法和主题分析来提取主要主题。
确定了四个主题：（i）积极的在线信息搜索行为；（ii）个性化的信息需求；（iii）结果分享中的挑战；（iv）缺乏基因意识。
参与者强调了由于结果后的大量信息需求而在分享结果时面临的挑战，这些需求已表现为积极的在线信息搜索行为。他们渴望有一个在线信息来源，其内容是个性化、可靠且本地化的。参与者预见了在线资源提高基因意识的潜力。这表明使用文化上量身定制的在线基因资源，以促进结果披露、增强风险管理决策能力并提高基因素养率。
与本文一同发表于10.1186/s13053-020-00154-x。
