UCLA Health’s recently established Cardiovascular Genetics Clinic provides personalized care to patients and families with inherited or genetic forms of cardiovascular disease. In addition to clinical evaluation and diagnostic assessment, including genetic testing, the program provides genetic counseling and subspecialty care designed to meet the unique needs of patients and families. Clinic director Jessica Wang, MD, PhD, genetic counselor Judy Fan and cardiologist Pritha Gupta, MD, PhD, talk about the program.
What was the impetus for starting this clinic?
Dr. Wang: Genetic or inherited cardiovascular diseases can run in families or occur in isolation. Although family screening is recommended to prevent adverse outcomes and sudden death, it is not often emphasized in a routine visit. Moreover, recent advances in technologies and the dramatic reduction in the cost of genetic testing have made genetic evaluation both possible and feasible. We built our program to provide care to patients and their family members with these very specialized needs, to better assess risks and manage risks for sudden death, heart failure and related complications based on their genetic profile.
What types of cases do you see?
Dr. Gupta: Some of the patients referred here come with a clear-cut diagnosis based on their clinical signs and symptoms. These tend to fall into one of four categories: cardiomyopathies, arrhythmias, diseases of the aorta and familial high cholesterol. We also see familial cases in which there is no diagnosis yet. For example, if there is a sudden cardiac death in the family and a cardiac condition such as arrhythmia could be the cause, first-degree family members might be advised to obtain a cardiac evaluation. Importantly, we provide genetic counseling to asymptomatic family members who may not have a diagnosis, so they understand the implications of genetic testing, before they make an informed choice about whether to proceed with genetic testing.
What do you tell patients as part of their genetic counseling?
Fan: We want them to make an informed decision, so we discuss both benefits and limitations of genetic testing and how that might affect them and their family members. Because many genetic heart conditions have guidelines for family screening, we want patients to be aware that some heritable cardiac conditions have an impact on the medical management of their relatives. The results of genetic testing are not necessarily clear cut, and a negative result may not mean their condition isn’t genetic. Part of pre-test counseling helps patients understand the possible test results and how that may affect their care and the care of their relatives. Patients sometimes have questions about the impact of genetic testing on insurability, so we address these concerns as well.
How might patients’ management beaffected by genetic testing?
Dr. Wang: Whether tested positive or negative on genetic testing, patients andtheir family members may still require longitudinal clinical follow-up, which includes periodic clinical screening. For example, patients with hypertrophic cardiomyopathy may require an echocardiogram and ambulatory cardiac monitoring every year. Not-yet-affected family members may require such screening every one-to-five years, depending on their age and other risk factors.
In what other ways are patients better off as a result of this type of a program?
Dr. Gupta: Patients appreciate having answers to questions they might have had for a long time — why their family member died, or getting an explanation for a condition that has been in their family for generations. Many patients also are concerned about the next generation, and they are hoping they can participate in research so that medical care for that condition can improve in the future. And with family history taking, we can identify other family members who might be at risk and allow those individuals to consider screening.