Genetic testing for hereditary cancer risk in primary care: Patient considerations, meaningful messaging, and the element of time

Abstract

The following work uses qualitative and quantitative methods, underpinned by a pragmatic research paradigm, to explore what motivates individuals to pursue genetic testing for hereditary cancer risk, the reasons they ultimately do not complete genetic testing, and the way considerations and circumstances shift over time. Chapter 1 is a qualitative study comparing the motivations, barriers, and permanence of genetic testing decisions across various points in the testing process. Interviews were conducted with participants from the Early Detection of Genetic Risk (EDGE) study, which offered testing to primary care patients at no cost. Interview findings explore if, how, and why, considerations vary by final stage of testing completion. Interviews occurred up to one year following EDGE study recruitment for testing. Results from this study informed chapters 2 and 3. Chapter 2 is an exploratory quantitative study that examines reasons individuals do not return genetic testing kits, along with the permanence of their decision. Participants were from the EDGE study and were surveyed 1-3 years following their initial recruitment. Chapter 3 is a qualitative study, which offers a deep dive into how circumstances and considerations around testing can change over time. Qualitative interviews were conducted with participants who dropped out of the MAking GENetic Testing Accessible (MAGENTA) trial at various stages in the testing process, 5-8 years following testing noncompletion. The MAGENTA study offered no-cost genetic testing for hereditary breast and ovarian cancer (HBOC) risk directly to participants.Across all studies, participants expressed an openness to, and often an eagerness, for repeated offers of genetic testing for hereditary cancer risk. Both personal circumstances and participants' attitudes and perceived norms shifted over time, highlighting the dynamic nature of patient decision-making. As healthcare systems continue to improve genetic testing infrastructure and address physician capacity and burden around referrals, mechanisms for patient re-engagement should be considered. For individuals whose care could be meaningfully impacted by screening for hereditary cancer risk, a missed opportunity should not forever remove them from the testing pathway.