A Digital Genetic Health Portal for Patients Who Have Received Germline Cancer Genetic Test Results: Development, User and Usability Testing of MyCancerGene (Preprint)

BACKGROUND The use of multigene panels in clinical practice has created an increasing likelihood that cancer genetic testing will leave many patients with uncertainties regarding test interpretation, implications and recommendations, which will change over time. We lack effective longitudinal clinical care models to provide updated information to patients regarding genetic test results or medical recommendations and to obtain personal and medical history updates. OBJECTIVE To bridge this gap in genetic medicine, we developed a patient and provider informed digital genetic health portal, "MyCancerGene," to improve longitudinal patient understanding and responses to genetic testing, especially in an evolving landscape of evidence and risk information. METHODS We used a 5-step process to develop the MyCancerGene digital tool. To better understand interest in and willingness to utilize a digital genetic health portal, we first surveyed 307 patients who completed genetic testing (Step 1). We completed qualitative interviews with 10 patients and a focus group with 17 providers to inform the content and function of MyCancerGene (Step 2). Next, we developed initial intervention content (Step 3) and completed user testing of intervention content with 25 providers and 28 patients (Step 4). After the prototype intervention was developed, we completed usability testing with eight patients for feedback on the final content, functions and ease of use (Step 5). RESULTS Patient and provider interviews identified high interest in a patient-centered digital genetic health portal to support longitudinal care. Potential advantages of MyCancerGene, according to patients and providers, included: increased accessibility, convenience and efficiency of accessing their genetic reports and documentation, and increasing and maintaining patient understanding through patient-centered content and educational resources. Both patients and providers endorsed the benefit of the tool for updating personal and family history and for providers to share new risk information, test interpretation or other medical changes. Patient and provider input informed eight key components of the tool: Landing Page, Summary of Care, My Genetic Test Results, My Family History, Provide an Update, Review an Update, Resources and a Screenings Tracker. They also recommended key functions, including the ability to download and print materials and the inclusion of reminders and engagement functions. Potential challenges identified included privacy/security concerns, the potential for electronic information to generate distress, and the need to integrate with existing health portals. While patients were comfortable with updates (even variant reclassification upgrades or clinically significant results), genetic providers had mixed feelings on the appropriateness of sharing variant reclassification upgrades through MyCancerGene CONCLUSIONS MyCancerGene, a patient-centered digital genetic health portal, was developed with extensive patient and provider feedback and designed to enhance longitudinal patient understanding of and affective and behavioral responses to genetic testing, particularly in the era of evolving evidence and risk information. CLINICALTRIAL NCT04774445