Journey Mapping the Experience of Risk in a Genetic Study
Authors: Courtney Scherr, Hoda Fakhari, Kerstin Hundal, Christin Hoell, Sharon Aufox, Rex Chisholm, Maureen Smith, Laura Rasmussen-Torvik
Background: Exploring research participants’ experiences with high-risk monogenic test results for
adult-onset conditions is crucial for refining future genetic research and implementing genetics in clinical practice. We used journey mapping to explore participants’ experiences, learning about their genetic risk and how this information affected medical decisions and behaviors.
Method: Journey mapping is a novel approach to longitudinal data that depicts participants’ thoughts, feelings, and behaviors in a visual timeline. In the context of a larger study, we focused on 5 participants who received high-risk genetic results, a sufficient sample size for journey mapping. Two team members reviewed a sequence of data, including baseline surveys, test results disclosure transcripts, a post-disclosure follow-up survey, individual interview transcripts, and a final survey. We applied consensus-based coding to categorize thoughts, emotions, and behaviors within the transcripts. Results from surveys and transcripts were plotted along a timeline for each participant, creating a comprehensive representation of their experiences.
Results: We identified several challenges related to receiving high-risk genetic results. All but one
participant expressed surprise upon receiving their results. The unsurprised participant held an inaccurate belief that their result was linked to an existing condition. A participant was disappointed to learn during results disclosure that Alzheimer’s risk was not returned. Two experienced a negative emotional response to learning about their genetic risk. A participant sought a second opinion after one physician provided risk estimates and management strategies inconsistent with those provided at disclosure. Another participant’s physician offered no guidance and was unresponsive to questions. Importantly, those whose physicians discussed risk management strategies engaged in those strategies.
Conclusion: Clarifying testing outcomes upfront is vital in research studies and clinical settings when
broad testing is implemented. Ensuring an accurate understanding of results may be particularly important when someone has a preexisting condition affecting the same organ associated with the genetic risk. Negative emotional responses attenuated over time, mainly when a physician is consulted, and risk management plans are implemented. The importance of physician interpretation of engagement in risk management strategies cannot be overstated.
