Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant Intervention

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, 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.

Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review

“… USA Randomized controlled trial, 98 Pancreatic ductal adenocarcinoma Remote genetic education and testing Courtney 21 Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. Singapore Prospective cohort study, 826 Not specified Free cascade testing Chen 64 Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant Intervention USA Prospective cohort study, 57 Not specified ConnectMy Variant (Web-based genealogy) Katz 33 Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study USA Randomized controlled trial, 66 Breast cancer Online cancer genetic education followed by free or paid ($50) testing Goodman 65 Development of a secure website to facilitate information sharing in families at high risk of bowel cancer— The Familyweb Study UK Cross-sectional study, 198 Colon cancer Use of website as a file sharing facility Li 18 Impact of subsidies on cancer genetic testing uptake in Singapore Singapore Prospective cohort study, 235 Not specified Subsidy schemes Schmidlen 24 Use of a chatbot to increase uptake of cascade genetic testing USA Prospective cohort study, 377 Not specified Cascade chatbot Garcia 34 Mechanisms to increase cascade testing in hereditary breast and ovarian cancer: Impact of introducing standardized communication aids into genetic counseling USA Prospective cohort study, 40 Hereditary breast and ovarian cancer Use of communication aids Aeilts 66 The impact of a cascade testing video on recipients' knowledge, cognitive message processing, and affective reactions: A formative evaluation. USA Cross sectional study, 373 Hereditary b...…”

ConnectMyVariant: An Innovative Use of Technology and Social Networks to Realize the Benefits of Cascade Screening

“…Our initial study assessed the acceptability and demand for using social media and networks created by DTC genomic genealogy sites, such as AncestryDNA or 23andMe, to help people with family outreach. Con-nectMyVariant study participants could engage in several outreach activities [17]. Many of these activities, such as sharing results with close relatives, would be considered traditional cascade outreach.…”

“…Some participants wanted to help others prevent cancer, but others were motivated primarily by finding out more about their family history [17]. The pilot study found that connecting an individual with someone else who has the same variant increased participation in family outreach activities 2.5-fold [17]. We initially focused on DTC genetic testing, but we found that other factors such as documentary genealogy sharing, encouragement from putative relatives, and simple reminders contributed more to outreach efforts for most families.…”

“…Every family was different. Some participants wanted to help others prevent cancer, but others were motivated primarily by finding out more about their family history [17]. The pilot study found that connecting an individual with someone else who has the same variant increased participation in family outreach activities 2.5-fold [17].…”

“…Several questions explored the ethics and acceptability of extended family outreach activities. Although participants reported social, emotional, and logistics challenges, no one reported concerns with the ethics of family members reaching out to their own distant relatives [17]. Similarly, participants see the potential to identify biological relatives that are at risk as a unique feature of this strategy.…”