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 semistructured 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.
Bibliographical noteFunding Information:
Acknowledgements This study was supported by funding from the National Human Genome Research Institute, National Institutes of Health (1RC1HG005369-01 and 1-P50HG004487-01). The Coriell Personalized Medicine Collaborative was funded by the William G. Rohrer Foundation and the RNR Foundation. S. Gollust was supported by the Robert Wood Johnson Foundation Health & Society Scholars program during the time of this study. We gratefully acknowledge the research assistance of Shimrit Keddem, MPH and Cara Zayac, MPH.
- Behavioral change
- Direct-to-consumer genetic testing
- Genetic testing
- Genomic risk
- Personalized medicine
- Public understanding
- Qualitative research
- Risk assessment