“It's Not Like Judgment Day”: Public Understanding of and Reactions to Personalized Genomic Risk Information

Abstract

The value of genomic risk assessment depends upon patients making appropriate behavioral changes in response to increased risk leading to disease prevention and early detection. To date, few studies have investigated consumers’ response to personalized genomic disease risk information. To address this gap, we conducted semi-structured interviews with 60 adults participating in the Coriell Personalized Medicine Collaborative. The interviews took place after receiving results providing genomic and other risk information for up to eight common complex diseases. We found that participants were most likely to recall results which conferred an increased risk or those of particular personal interest. Participants understood the multi-factorial nature of common complex disease, and generally did not have negative emotional responses or overly deterministic perceptions of their results. Although most participants expressed a desire to use results to improve their health, a minority had actually taken action (behavior change or shared results with their doctor) at the time of the interview. These results suggest that participants have a reasonable understanding of genomic risk information and that provision of genomic risk information may motivate behavior change in some individuals; however additional work is needed to better understand the lack of change seen in the majority of participants.

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care

“…42 Yet, although patients were like other hopeful participants in clinical trials, the promise of genomics enhanced their expectations of benefit. 17,26,27 Patients believed that genomic information about their cancer held particular promise because it was novel and offered the potential of targeted therapeutics. Patients who received information about tumor mutations were especially hopeful of the experimental therapeutics these test results made relevant, and disappointed when suitable clinical trials were not available.…”

“…17,21 In addition, emerging literature attends to the identification of genetic risk information using next-generation sequencing technologies and highlights expectations related to research participation and preferences for results, 25 including incidental results. Yet, although research exploring patient experiences with testing for inherited health risks is extensive, 26,27 research on the effects of receiving unexpected or uncertain genetic information is less developed. Available evidence indicates that genetic test results can be conveyed with limited psychological harm to individuals known to be at high risk, [28][29][30][31] and highlights the importance of familial obligations in individuals' decisions to pursue such testing.…”

Effect of Direct‐to‐Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers

“…Genetic counsellors are likely to come into contact with patients who have purchased DTC genetic tests, and have a role in helping them to understand their results (Gordon et al 2011). Although there is likely an element of risk to patients' exposure to genetic risk information (cf.…”

Primary care patients’ views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study

“…Limited research has been published on how results from DTCGT and other genetic tests have affected the health behavior of users (Bloss et al 2012;Gordon et al 2012;McBride et al 2010a). Kaufman et al 2012 is one of the few studies to assess the impact of DTCGT on health behaviors of actual users (Kaufman et al 2012).…”