Date of Award


Document Type

Open Access Thesis


Genetic Counseling


School of Medicine

First Advisor

Crystal Hill-Chapman


According to the World Health Organization (2005), cardiovascular disease (CVD) is the number one cause of death in most countries. Assessing a patient’s risk for heart disease may include incorporating factors such as their gender, age, weight, tobacco history, cholesterol, blood pressure, family history, and more recently, genetics. Genome-wide association studies (GWAS) have made it possible to identify risk loci for many of the common, complex disorders, including coronary artery disease (CAD). As the medical genetics community undergoes a shift from a genetics focus to a genomics oriented focus, genomic medicine is becoming more accessible. Research has begun to examine how individuals perceive and utilize genomic information; however, little has been done to explore preliminary feelings towards personalized genomic medicine in those with a family history of heart disease alone.

This study explores the perceived utility of genomic testing in individuals with a family history of heart disease and begins to define a role for genetic counselors within the genomic medicine context. Individuals 18 years of age or older with at least one firstdegree or two second-degree relatives with heart disease were invited to participate. An online questionnaire was distributed to patients at a local cardiology clinic, students at a local university, and through Facebook.

A total of 29 participants met eligibility criteria and completed 80% or more of the questionnaire. Frequencies, means, and standard deviations were calculated. Our results indicate that our study population had low genetic literacy. After viewing a

genetic information video, most participants perceived genomic information to be useful in understanding their risk of developing heart disease. Most participants also believed that a genetic counselor would be helpful in explaining not only genomic test results, but also one’s risk for developing heart disease and medical management options. Lastly, respondents typically indicated they were more likely to exercise regularly than engage in diet modifications, take prescription medications, or regularly follow-up with a specialist if their risk for heart disease was increased because of genetics.