ELSIcon2022 • Paper • June 2, 2022
Jessica LeBlanc, Kurt D. Christensen, Emilie S. Zoltick, Megan Bell, Lauren N. Galbraith, Leila Jamal, Christine Y. Lu, Jennifer R. Leonhard, Dylan M. Platt, Catherine Hajek
Background: A growing number of health systems offer genetic testing in primary care settings. Real world evidence about patient perceptions concerning genetic testing as a clinical service is limited.
Methods: The Sanford Chip is a genetic test available to primary care patients as an elective clinical service that provides preemptive pharmacogenomic testing and screens for actionable disease predispositions. After web-based education, patients complete a survey about motivations, expectations, concerns, knowledge, and risk perceptions prior to enrollment. We analyzed data from 1,732 patients aged ≥18 years who enrolled from August 2020 to June 2021.
Results: Patients most frequently endorsed interest in pharmacogenomics (35%) and personal disease risks (26%) as their primary motivation to enroll. Over half of patients expected results to guide medication management (86%), help prevent future disease (71%), and provide risk information to offspring (67%). On average, patients were “very concerned” about <1 of 8 potential concerns, with privacy of genetic information (21%) and ability to predict future disease risk (20%) most cited. An average of 6.8 of 11 knowledge items were answered correctly, with patients often overestimating benefits. Risk perceptions of conditions potentially impacted by test results varied. More patients perceived having lower than average risk of colon cancer than higher risk (31.8% vs 19.8%, p<0.001), but more perceived higher than average risk of heart attack than lower risk (36.9% vs 20.7%, p<0.001).
Conclusion: Patients pursued testing primarily because of the clinical utility expectations, but often misunderstood test capabilities. Results highlight opportunities and challenges to population genetic testing."