266531 Examining the Clinical Utility of Genomic Testing for Cardiovascular Disease Risk

Tuesday, October 30, 2012 : 9:10 AM - 9:30 AM

Danielle Soucier, MBE , Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
Barbara Bernhardt, MS, CGC , Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
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.

Learning Areas:
Assessment of individual and community needs for health education
Chronic disease management and prevention

Learning Objectives:
(1)Describe the attitudes, understanding, and assessment of the risk and benefits of genetic testing of the patients seen at the University of Pennsylvania Preventive Cardiology Program. (2)Discuss the impact of genomic testing results on cardiovascular risk related behaviors, such as diet and exercise, in patients who had genomic testing (3)Identify barriers to understanding genomic testing and results from patientsí perspectives (4)Formulate strategies for improved patient understanding of genomic testing and suggest strategies for enhanced communication about disease risk

Keywords: Genetics, Health Behavior

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: I have worked on numerous studies at the University of Pennsylvania (PennCIGHT)ELSI center focusing on patient and provider perspectives of prenatal microarrays, pediatric microarrays, whole exome sequencing, and biobanks. I have previously presented at a public health genomics conference (2011) in Bethesda Maryland on the pediatric biobanking ELSI issues. My public health training and work experience have prepared me to speak on the public health issues relating to utilizing genetics for chronic disease (CVD) prevention.
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.