Genome-wide association studies aim to identify genetic variants that are associated with a disease phenotype in order to enhance precision medicine efforts. Despite the excitement surrounding the promise of precision medicine and interest among the public in accessing personalized genetic information, there has been little effort dedicated to understanding how complex genetic risk information could be incorporated into clinical practice to inform prevention, screening, and treatment. In this article, we briefly summarize the literature on the impact of receiving genetic risk information on health-related behavior, discuss the limitations of these studies, and outline the challenges that will need to be overcome, along with suggested next steps for future studies, to understand the true promise of precision medicine. The current literature demonstrates that there is no consistent or strong evidence that receiving complex genetic risk information, such as polygenic risk scores, has an impact on behavior; however, there are a number of limitations that may impact the failure to find significant effects associated with receiving genetic feedback. Behavior change is a complex process and simply providing genetic risk information without incorporating a theoretical perspective on behavior change diminishes the potential impact of receiving genetic risk information on actual behavior change. Future studies and interventions which return genetic feedback should be designed using theoretical frameworks of behavior change models to improve the impact of receiving personalized genetic information.
Keywords: behavior change theory; health behavior; health belief model; personalized genetic feedback; polygenic risk scores; precision medicine; prevention.
The basis of precision medicine is to use an individual’s personal genetic information, such as a polygenic risk score, along with lifestyle information and personal medical history, to promote better health outcomes. The utility of polygenic risk scores relies on the assumption that receiving complex genetic feedback will motivate changes in behavior that reduces one’s risk for developing a medical condition. To date, there is no consistent or strong evidence that receiving complex genetic risk information, such as polygenic risk scores, influences behavior change. However, the literature on how to effectively deliver polygenic risk scores is small. Prior studies assessing the impact of receiving complex genetic risk information have several limitations that may impact the failure to find that individuals take action or change health behaviors after receiving genetic feedback. One way to address these limitations is to incorporate theories of behavior change, such as the Health Belief Model, into the way in which genetic risk information is returned. Designing intervention programs grounded in theories of behavior change and developing testable hypotheses related to theoretical mechanisms of change are important next steps.
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