Human-Centered Design Study to Inform Traceback Cascade Genetic Testing Programs at Three Integrated Health Systems

Abstract

Introduction: A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served. Methods: We conducted a remote, human-centered design research study of people with ovarian, fallopian tube, or peritoneal cancer (probands) and people with a family history of ovarian cancer (relatives) at three integrated health systems between May and September 2021. Participants completed activities to elicit their preferences about ovarian cancer genetic testing messaging, and to design their ideal experience receiving an invitation to participate in genetic testing. Interview data were analyzed using a rapid thematic analysis approach. Results: We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who can answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders. Discussion/Conclusion: Participants were open to receiving information about traceback genetic testing and recognized its value. Participants preferred discussing genetic testing with a trusted clinician. Directed communication was preferable to passive communication. Other valued information included how genetic tests help their family and the cost of genetic testing. These findings are informing traceback cascade genetic testing programs at all three sites.

Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines: a clinical implementation study

“…For additional details on current and previous guidelines, see Supplemental 1. In 2016, the National Cancer Institute held a meeting where a framework for the identification and genetic testing of previously diagnosed but unreferred ovarian cancer patients and other unrecognized carriers of pathogenic variants was discussed and designated 'Traceback' [13]. Since then, Traceback among previous ovarian cancer patients and their relatives have been studied [14][15][16][17]. However, Traceback among previously diagnosed breast cancer patients has not been thoroughly evaluated.…”