Abstract: Patients’ Experience with Ambiguous Test Results: The Impact of Provider Interpretation on Emotion, Risk Perception, and Medical Risk Management

◆ Courtney L. Scherr, Northwestern University
◆ Sanjana Ramesh, Northwestern University
◆ Hannah Getachew-Smith, Northwestern University
◆ Kerstin Kalke, Northwestern University

Uncertainty is pervasive in healthcare. Clinical genetic testing introduces uncertainties of exceptional quality and scale. A recently developed conceptual taxonomy of uncertainty provides greater nuance to thinking about the variety and meanings of uncertainty in health and genetics (Han et al., 2017). The taxonomy subdivides source of uncertainty into three types: 1) probability (e.g., indeterminate future outcome), 3) complexity (e.g., multiple causal factors), and 3) ambiguity (e.g., imprecision, lack of information; Han et al., 2011). Research on patients’ experience with uncertainty in genetic testing has predominately focused on probability (Johansson et al., 2018) and complexity (Waters, Muff, & Hamilton, 2014) and less on ambiguity. A variant of uncertain significance (VUS) is an ambiguous result from genetic testing, which means a variant was identified in a gene associated with disease risk, but the impact of the variant on disease risk is scientifically unknown. In this study, we explored how patients’ understood a VUS from genetic testing for hereditary breast cancer, and the impact on their emotions and risk perception.

Women who received a VUS from genetic testing for hereditary breast cancer were identified by genetic counselors and recruited by the study team. Individual telephone interviews were conducted (N = 20), digitally recorded, transcribed and reviewed for accuracy. Qualitative content analysis was conducted (Elyo & Kyngäs, 2007). We found most participants understood that the clinical meaning of a VUS is inherently unknowable due to a lack of data and scientific evidence (objective). They also voiced uncertainty stemming from their own lack of understanding about VUS (subjective). Participants’ reported their genetic counselor encouraged them not to worry, and that the VUS was unlikely to be associated with increased cancer risk. As such, participants explained they were not worried, but some felt happiness/relief that they received mostly negative results. Participants did not believe the VUS increased their cancer risk, and did not plan to change their medical risk management.

Understanding how patients experience uncertainty, based on the source of uncertainty, can inform how providers communicate with patients to help with uncertainty management (Brashers, 2001; Han et al., 2017). Patients in this study described objective and subjective ambiguity associated with the VUS. Regardless of patients’ understanding, their conceptualization of the result was informed by the genetic counselors’ interpretation. Perhaps because the genetic counselors minimized the result, the VUS did not cause negative emotions or increased cancer risk perception in this study. This finding highlights the potential importance of expert interpretation when disclosing an ambiguous result, like a VUS, to patients. In contrast with prior theorizing, which suggests people frame uncertainty as either threatening or hopeful (Brashers, 2001), participants in this study experienced neither. In part, previous theorizing seems to have focused on uncertainty due to probability or complexity, but not ambiguity. Participant self-selection is a limitation of this study. Future studies should examine communication between genetic counselors and patients during disclosure to shed light onto more and less effective communication strategies when disclosing VUS, which could inform discussions about ambiguous results in other health-related contexts.