Examining the Clinical Utility of Genomic Testing for Cardiovascular Disease Risk

As the foundation of personalized medicine, genomic testing in asymptomatic individuals may identify predispositions for common complex disorders such as cardiovascular disease (CVD), leading to tailored prevention strategies. Yet it is unclear whether patients will understand risk information or adopt risk reducing behaviors. In January 2011, the Penn Preventive Cardiology Program began offering a myocardial infarction risk assessment (MIRA) test which includes nine genetic variants implicated in CVD risk. The introduction of MIRA presented an opportunity to evaluate patient attitudes towards and the behavioral impact of genomic testing for CVD risk. Using a mixed methods design, 117 new patients completed a pre-visit survey, and to date 68/117 participants have completed a 6-month post-visit survey. In addition, 11 participants have been interviewed after receiving genomic test results. When questioned about interest in CVD genomic risk assessment before the clinic encounter, 96% expressed interest. Responding to a hypothetical scenario in which a genomic test found a predisposition for CVD, 60% of pre-visit participants reported they would improve their diet, and 54% would exercise more. Of the participants completing a post-visit survey who have received results (n=13), half reported changing diet and/or exercise after their clinic visit, but change was unrelated to test results. Although the majority of survey respondents reported adequate understanding of results, qualitative interview analysis identifies a need for improved presentation of the genomic test in the clinic visit as well as enhanced communication of test results to assist patients' understanding of the complexity of genomic information.