ELSIcon2022 Paper: Consumers’ Perspectives Following Direct-to-Consumer Genetic Testing for Cancer Risk

ELSIcon2022 • Paper • June 3, 2022

Madison Kilbride, Brigitte Cronier, Lisa Kessler, Angela Bradbury

Once limited to the clinical setting, genetic testing for cancer susceptibility is now widely available through direct-to-consumer (DTC) companies. For some individuals, test results may be lifesaving, enabling them to manage and reduce their cancer risk. Moreover, the availability of these tests has the potential to increase equity by making genetic services more accessible. But DTC tests also carry potential risks for psychological and emotional distress, which may be exacerbated by inadequate pre-test genetic counseling and informed consent protocols. Despite these risks, little is known about consumers’ experiences utilizing these tests and whether anticipated risks and benefits are reflected in test takers’ self-reports.

To meet this need, we interviewed 30 adults who had previously received a positive result or variant of uncertain significance (VUS) from a DTC cancer susceptibility genetic test. Interviews took place from July⁠—November 2020. Major topics addressed included participants’: evaluation of the associated risks and benefits of testing; understanding of their test results and perceptions of possible barriers to their understanding; psychological and emotional responses to testing and receiving results; and reports of changes to health behaviors and social relationships. Our analysis revealed several emerging themes. Overall, participants expressed a positive attitude towards DTC testing. Many, however, also raised concerns about the lack of pre-test counseling and the accessibility of appropriate follow-up care, particularly for those who lack adequate insurance or access to medical resources. Based on these data, we make initial recommendations to encourage the ethical and safe use of DTC cancer susceptibility genetic tests.