Genetic Testing, Screening, and Counseling Issues in Cardiovascular Disease

Genetic risk assessment for cardiovascular disease is less advanced and less widely performed to date than it is for cancer. Yet it is no less important. Alert clinicians should "think genetically" and follow up appropriately when confronted with a client having a family history of heart disease, early heart disease themselves, a known genetic disorder in which cardiac problems may be a component, or signs and symptoms indicative of a familial component to the heart problem observed. It is important for the clinician to know how, when, and to whom referral for further genetic evaluation and counseling should be made. Genetic testing and screening in children or adolescents for conditions such as hypertrophic cardiomyopathy (HCM), familial hypercholesterolemia (FH), and long QT (LQT) syndrome, when indicated, can help to save lives through preventive treatment and therapeutic interventions. Preparticipation sports physicals are one means of providing such screening and are important to conduct properly under guidelines recommended by the American Heart Association. Genetic testing for relatives of persons already identified to have heritable cardiac conditions is becoming more and more integral to mainstream primary health care but engender controversy when testing of children is involved. Clinicians must know how to interpret the results of such tests. Appropriate genetic counseling must accompany risk assessment, genetic testing, and screening for cardiovascular disease.