Short-term outcomes of a randomized, mixed-methods trial to improve hereditary cancer test results disclosure and follow-up communication with family.

Abstract

This mixed-methods study evaluated an online, theory-guided family communication intervention (GeneSHARE) designed to increase initial sharing of genetic test results and follow-up communication with family members among individuals with a germline pathogenic or likely pathogenic variant (GPV) in a hereditary cancer gene. This randomized trial consisted of 528 participants with a GPV who self-reported having at least one untested, at-risk relative, of which a subset of participants were randomized into the GeneSHARE intervention and received resources designed to facilitate sharing of information and ongoing communication about hereditary cancer genes. All participants were asked to complete baseline and follow-up surveys, and a subset of participants were asked to complete an interview. Quantitative analyses compared communication outcomes across study groups, and qualitative interviews with a purposive subsample (N=10) examined the use of the GeneSHARE intervention. Among the 442 participants who had not shared GPV results with all living, adult, blood-related relatives (i.e., first-degree, second-degree, and cousins) at risk of having the GPV, initial disclosure to at least one relative was significantly higher in the intervention group (29.5% vs. 20.8%; p=.042). More than half of all 528 participants followed up with at least one at-risk relative who had previously been informed of the GPV, though rates did not differ between groups (p=.161). Interviews showed that study emails prompted communication, and one-page handouts facilitated sharing. However, intervention delivery long after testing, login barriers, and limited emphasis on follow-up communication tempered the intervention's impact. The online intervention increased initial disclosure with at-risk relatives but did not enhance follow-up communication after initial disclosure. Findings highlight the value of integrating reminders to communicate with family into interventions, providing interventions earlier in care pathways, and expanding resources supporting ongoing family communication.