Assistant Professor of Philosophy University of Utah, United States
Purpose: With few exceptions, research on direct-to-consumer (DTC) genetic testing for hereditary cancer risk has focused on tests with limited predictive value and clinical utility. Our study updates the existing literature by exploring the experiences of individuals who have taken modern DTC genetic tests for cancer susceptibility that, unlike earlier tests, screen for medically significant variants.
Methods: We interviewed 30 patients who had undergone DTC genetic testing for hereditary cancer risk between 2014 and 2019 and received a positive result or a variant of uncertain significance (VUS). We explored participants’ pre-test sentiments (7 items), experiences receiving results (5 items), (3) behavioral and health-related changes (6 items), and (4) attitudes and beliefs (3 items). Data were analyzed for thematic content.
Results: Most participants reported a personal (n=6) and/or family history (n=24) of cancer, which influenced their decision to pursue testing. Before testing, most participants did not consult with a physician (n=25) or receive genetic counseling (n=23). Nevertheless, the majority felt that they understood test-related information (n=20) and their results (n=20), though a considerable number reported experiencing negative emotions related to their results. Most also shared their results with family members (n=27). Overall, participants’ attitudes towards DTC genetic testing for cancer risk were predominantly positive (n=23).
Conclusion: This study provides new insights into patients’ experiences using modern DTC genetic tests for hereditary cancer risk, focusing on their perceptions of the tests’ risks, benefits, and limitations. These perspectives can potentially inform improvements to DTC services, ensuring that they better meet test-takers’ needs.
