JMIR Publications

ABSTRACT

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, uptake is low. We developed and conducted a pilot study of the ConnectMyVariant intervention, in which participants receive support to contact at-risk relatives that extend beyond first-degree relatives and encourage relatives to obtain genetic testing and connect with others having their same variant through email and social media. The support that participants received included: listening to participants needs; assisting as requested with documentary genealogy to find common ancestors; facilitating direct-to-consumer DNA testing and interpretation; and assisting with database searches.

Objective:

We sought to assess intervention feasibility, motivations for participating, and engagement among ConnectMyVariant participants and their families.

Methods:

We employed 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 online advertising, dissemination of invitations with positive test results, provider recruitment, snowball sampling, and recruitment through online 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 employed an inductive qualitative data analysis approach to analyze email, free text notes, and other communications generated with participants as part of the ConnectMyVariant intervention.

Results:

We identified 84 prospective participants through different recruitment mechanisms; 57 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 were desires to find others and prevent cancer, more participants expressed 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 the communication, how to go about it, and if others with a specific variant would be motivated to help find common ancestors. We observed that ConnectMyVariant participants engaged in six primary activities to identify and communicate with at-risk relatives: sharing family history, family member testing, DTC genealogy genetic testing analysis, contacting (distant) relatives, documentary genealogy, and expanding variant groups/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 interest in extended family outreach as a mechanism to improve cascade screening for hereditary cancer prevention. Additional research to systematically evaluate outcomes of such outreach may be challenging, but is warranted.