背景:级联筛选,定义为帮助有风险的亲属获得针对显性遗传性癌症综合征的家族变异的有针对性的基因检测,是被证明是预防癌症的组成部分;然而,它的吸收很低。我们开发并进行了ConnectMyVariant干预的初步研究,参与者获得支持,以联系超出一级亲属的高危亲属,并鼓励亲属进行基因检测,并通过电子邮件和社交媒体与具有相同变异的其他人联系。参与者获得的支持包括倾听参与者的需求,协助文献家谱寻找共同的祖先,促进直接面向消费者的DNA测试和解释,并协助数据库搜索。
目的:我们旨在评估干预的可行性,参与的动机,以及ConnectMyVariant参与者及其家人之间的参与。
方法:我们使用了混合方法设计,包括定量和定性评估方法。首先,我们通过使用多种招募机制来表征招募和保留,从而考虑了干预的可行性,包括基于网络的广告,传播测试结果为阳性的邀请,提供者招聘,雪球采样,以及通过基于网络的社交网络和研究进行招聘。第二,我们表征了参与者的动机,关注,并通过项目文件记录参与者参与外展活动和参与者沟通的定性分析。我们使用归纳定性数据分析方法来分析电子邮件,自由文本注释,以及作为ConnectMyVariant干预的一部分与参与者生成的其他通信。
结果:我们确定了84名使用不同招募机制的前瞻性参与者;57名参与者最终以不同的时间长度参加研究。关于参与干预的动机,参与者对与家谱相关的活动以及与具有其特定变体的其他人的交流最感兴趣.尽管人们希望找到具有相同变体并预防癌症的其他人,更多的参与者表示有兴趣了解他们的家谱和家庭健康史,亲属的预防被认为是外展的自然副作用。对参与的担忧包括亲属是否愿意交流,如何去做,以及具有特定变体的其他人是否会被激励来帮助寻找共同的祖先。我们观察到ConnectMyVariant参与者参与了6项主要活动来识别风险亲属并与之沟通:分享家族史,家庭成员测试,直接面向消费者的家谱基因检测分析,联系(远亲),文献家谱,并扩大变体组或外展。与具有相同变体的其他人有联系的参与者更有可能参与一些大家庭外展活动。
结论:这项研究表明,人们对扩大家庭外展作为一种机制来改善级联筛查以预防遗传性癌症有兴趣。系统评估这种外展结果的其他研究可能具有挑战性,但有必要。
BACKGROUND: Cascade screening, defined as helping at-risk relatives get targeted genetic testing of familial variants for dominant hereditary cancer syndromes, is a proven component of cancer prevention; however, its uptake is low. We developed and conducted a pilot study of the ConnectMyVariant intervention, in which participants received support to contact at-risk relatives that extended beyond first-degree relatives and encourage relatives to obtain genetic testing and connect with others having the same variant through email and social media. The support that participants received included listening to participants\' needs, assisting with documentary genealogy to find common ancestors, facilitating direct-to-consumer DNA testing and interpretation, and assisting with database searches.
OBJECTIVE: We aimed to assess intervention feasibility, motivations for participating, and engagement among ConnectMyVariant participants and their families.
METHODS: We used a mixed methods design including both quantitative and qualitative evaluation methods. First, we considered intervention feasibility by characterizing recruitment and retention using multiple recruitment mechanisms, including web-based advertising, dissemination of invitations with positive test results, provider recruitment, snowball sampling, and recruitment through web-based social networks and research studies. Second, we characterized participants\' motivations, concerns, and engagement through project documentation of participant engagement in outreach activities and qualitative analysis of participant communications. We used an inductive qualitative data analysis approach to analyze emails, free-text notes, and other communications generated with participants as part of the ConnectMyVariant intervention.
RESULTS: We identified 84 prospective participants using different recruitment mechanisms; 57 participants were ultimately enrolled in the study for varying lengths of time. With respect to motivations for engaging in the intervention, participants were most interested in activities relating to genealogy and communication with others who had their specific variants. Although there was a desire to find others with the same variant and prevent cancer, more participants expressed an interest in learning about their genealogy and family health history, with prevention in relatives considered a natural side effect of outreach. Concerns about participation included whether relatives would be open to communication, how to go about it, and whether others with a specific variant would be motivated to help find common ancestors. We observed that ConnectMyVariant participants engaged in 6 primary activities to identify and communicate with at-risk relatives: sharing family history, family member testing, direct-to-consumer genealogy genetic testing analysis, contacting (distant) relatives, documentary genealogy, and expanding variant groups or outreach. Participants who connected with others who had the same variant were more likely to engage with several extended family outreach activities.
CONCLUSIONS: This study demonstrated that there is an interest in extended family outreach as a mechanism to improve cascade screening for hereditary cancer prevention. Additional research to systematically evaluate the outcomes of such outreach may be challenging but is warranted.