Guidelines recommend that providers engage patients in shared decision-making about receiving incidental results (IR) prior to genomic sequencing (GS), but this can be time-consuming, given the myriad of IR and variation in patients’ preferences. We aimed to develop patient profiles to inform pre-test counseling for IR. We conducted semi-structured interviews with participants as a part of a randomized trial of the GenomicsADvISER.com, a decision aid for selecting IR. Interviews explored factors participants considered when deliberating over learning IR. Interviews were analyzed by thematic analysis and constant comparison. Participants were mostly female (28/31) and about half of them were over the age of 50 (16/31). We identified five patient profiles that reflect common contextual factors, attitudes, concerns, and perceived utility of IR. Information Enthusiasts self-identified as “planners” and valued learning most or all IR to enable planning and disease prevention because “knowledge is power”. Concerned Individuals defined themselves as “anxious,” and were reluctant to learn IR, anticipating negative psychological impacts from IR. Contemplators were discerning about the value and limitations of IR, weighing health benefits with the impacts of not being able to “un-know” information. Individuals of Advanced Life Stage did not consider IR relevant for themselves and primarily considered their implications for family members. Reassurance Seekers were reassured by previous negative genetic test results which shaped their expectations for receiving no IR: “hopefully [GS will] be negative, too. And then I can rest easy”. These profiles could inform targeted counseling for IR by providing a framework to address common values, concerns. and misconceptions.
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Members of Incidental Genomics Study Team are listed below the Acknowledgements section.
This research was supported by the Canadian Institutes of Health Research (CIHR) and the University of Toronto McLaughlin Centre. YB was supported by a CIHR New Investigator Award during this study. CM received support from the Research Training Centre at St. Michael's Hospital, the Canadian Institutes of Health Research (FRN #160968) and from a studentship funded by the Canadian Centre for Applied Research in Cancer Control (ARCC). ARCC receives core funding from the Canadian Cancer Society (Grant #2015-703549). JGH was supported by NCI P30 CA008748. We would like to thank Theresa H. Kim for her contributions to the statistical analysis in the RCT, and her contributions to recruitment. We would like to thank Nasim Monfared, Oana Morar, Leslie Ordal and Nicholas Watkins for their support on the study. Finally, we would like to thank our interview participants for their time and valuable insights.
Incidental Genomics Study Team
Yvonne Bombard (PI), Susan Armel, Nancy Baxter, Ahmed Bayoumi, Ken Bond, June C. Carroll, Timothy Caulfield, Tammy Clifford, Irfan Dhalla, Craig Earle, Andrea Eisen, Christine Elser, Michael Evans, Emily Glogowski, Jada Hamilton, Wanrudee Isaranuwatchai, Monica Kastner, Raymond H. Kim, Andreas Laupacis, Jordan Lerner-Ellis, Michelle Mujoomdar, Yvonne Bombard (PI), Susan Armel, Nancy Baxter, Ahmed Bayoumi, Ken Bond, June C. Carroll, Tammy Clifford, Timothy Caulfield, Iris Cohn, Irfan Dhalla, Craig Earle, Andrea Eisen, Christine Elser, Emily Glogowski, Jada G. Hamilton, Wanrudee Isaranuwatchai, Monika Kastner, Raymond H. Kim, Andreas Laupacis, Jordan Lerner-Ellis, Kenneth Offit, Seema Panchal, Mark Robson, Adena Scheer, Stephen W. Scherer, Kasmintan Schrader, Terrance Sullivan and Kevin E. Thorpe.