This article was authored by Marion E. McRae, MScN, ACNP-BC, CCRN-CSC-CMC, a nurse practitioner in the Congenital Heart Program at Cedars-Sinai Heart Institute.

Genetics counselors have specialized training in medical genetics and counseling at either the masters or doctoral level and are certified through the American Board of Genetic Counseling. Many states offer genetic counseling licensure. Genetic counselors working in cardiovascular genetics have additional clinical training and/or continuing education with regard to cardiovascular disease. It is estimated that there are currently about 50 – 60 cardiovascular genetics counselors in the U.S.

Ariadna Martinez, MS, MS, LCGC, of the Cedars-Sinai Heart Institute Cardiogenetics Program at Cedars-Sinai Medical Center in Los Angeles, CA, is currently the only cardiovascular genetics counselor in southern California. Her typical day includes evaluating patients and families with known or suspected inherited cardiomyopathies, familial arrhythmias, aortopathies, familial hypercholesterolemia and sudden cardiac arrest/death. She has also been involved in setting up support groups for patients with these diseases and developing a patient registry.

Cardiovascular genetic counselors work hand-in-hand with cardiologists. They collect detailed patient and family medical history, assess risk for cardiovascular disease, make recommendations for family screening, provide psychosocial support and discuss genetic testing as appropriate. This includes a careful review of the benefits, risks and limitations of testing for the patient/family.

Ariadna encourages providers to refer patients/families to a cardiovascular genetic counselor to ensure that genetic testing is ordered in the right context and that the complex test results are correctly interpreted and explained in a way that patients/families and providers can understand and make appropriate decisions.

One area she finds is overlooked is the genetic component and implications for familial hypercholesterolemia. Patients are often diagnosed and treated without adequately exploring the family history for genetic links and making recommendations for family cascade screening. Hence there are often family members at risk who could benefit from screening and preventive measures that are not receiving this service.

Because of the increasing number of genetic testing laboratories, the cost of cardiovascular genetic tests has declined significantly, making genetic testing more accessible to patients and families. When the genetic test results come back, the genetic counselor reviews the test results and interprets the implications of the test with providers, patients and families. A “family letter” summarizing the results, risk assessment and family screening recommendations is shared with patients so they do not have to interpret the results to family members, and family members have the tools to follow the recommendations.

Genetic counseling is recommended per national guidelines when undergoing genetic testing. If you have a patient/family you would like to refer for cardiovascular genetic counseling and do not have a contact to refer to, there is a list of counselors available on the National Society of Genetic Counselors website.

< Back to Listings