Date of Award

1-1-2012

Document Type

Campus Access Thesis

Department

Genetic Counseling

First Advisor

Victoria Vincent

Abstract

The underlying genetic etiologies for a group of conditions known as inherited cardiac disease are becoming clearer, and genetic testing for these conditions is rapidly expanding as new genes are being identified which contribute to disease phenotypes. The diagnosis of inherited cardiac disease in a family holds implications not only for the proband, but also for family members who may be at risk of a serious or fatal heart problem. Individuals and families diagnosed with or at risk for inherited cardiac disease may benefit from genetic counseling to explain the genetic basis of disease, to discuss risks for other family members, to explain the benefits and limitations of genetic testing, and to provide psychosocial support. In this study, practicing adult cardiologists from Georgia, North Carolina and South Carolina were invited to complete a survey to assess their knowledge of the genetic basis of inherited cardiac disease as well as their knowledge, attitudes and practices regarding genetic testing and genetic counseling. We hypothesized that practicing adult cardiologists would not have high knowledge levels regarding the genetic basis of inherited cardiac disease and that they are not incorporating genetic testing and genetic counseling into their comprehensive care for patients with these conditions. Of those invited, 22 participants completed this study. Participants seemed to lack a full understanding of the genetic basis of inherited cardiac disease as only 14% (n = 3) of participants correctly answered all genetic knowledge questions about two common types of inherited cardiac disease known as hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS). The majority of participants in this study responded that they never or rarely utilize genetic testing (81%, n = 17) and they felt that uncertainties concerning where and how to obtain genetic testing coupled with cost and medical management issues prevented them from ordering genetic testing. The majority of participants in this study also responded that they never or rarely utilize genetic counselors (86%, n = 19), largely because they are unaware of a genetic counselor that would be available to their patients. The results from this study support the hypothesis that adult cardiologists are not as knowledgeable about the genetics of inherited cardiac disease and that they are not yet commonly utilizing genetic testing and genetic counselor services for patients with these conditions. Continuing education regarding the genetic basis of inherited cardiac disease as well as the benefits and limitations of genetic testing and counseling for these conditions may be needed to increase practicing adult cardiologists' knowledge and utilization of genetic counseling and genetic testing.

Share

COinS