Meet Diana– a genetic counselor who has a special interest in cardiogenetics. Conditions in this area can cause problems with the heart muscle or the heart-beat rhythms. I asked her some questions about the rewards and challenges of seeing patients within this specialty.

Diana has a special interest in cardiogenetics.

Describe your current position.

I am a genetic counselor for for a large health organization in San Diego, CA. I provide risk assessment, education and support to individuals and families who have been diagnosed with or are at risk for inherited conditions. I see patients who have personal and family histories of heart muscle disease (cardiomyopathy), heart rhythm disease (arrythmias). I also see patients with family or personal history of cancer, or couples who are pregnant or planning to become pregnant. The first meeting with my patients usually involves taking a detailed personal and family history and deciding whether genetic testing could be useful for them.

How did you become interested in cardiac genetics?

Following my undergrad studies, I began working as a research assistant in a cardiology research lab at Johns Hopkins in Baltimore. My work involved short and long term follow up with patients who had implantable cardiac devices (pacemakers/ICDs) who had undergone MRI. I discovered that many of the patients I worked with required an implantable device due to inherited cardiac conditions. For instance, one such condition is arrhythmogenic right ventricular cardiomyopathy (ARVC), which can be caused by harmful genetic mutations to the genes that make desmosomes (connective tissue between muscle cells in the heart) that can lead to the sudden and dangerous abnormal heart rhythms. I have always been very interested in the genetic component of diseases, and wanted to learn more after reading all the notes from the “genetic counselor” in these patient’s medical charts. Before this time, I did not even know that genetic counseling was a role in healthcare! Luckily I was able to meet and shadow many genetic counselors in the inherited cardiomyopathies and arrythmias specialized clinic at Hopkins, and was fascinated by this field and the amazing work the cardiogenetics team was doing.

What makes cardiogenetics unique compared to other genetic specialties?

There are a lot of unique challenges associated with counseling about inherited cardiac conditions, but one of the most striking is how often we encounter sudden cardiac events, and sadly, sudden cardiac death. Oftentimes, a cardiac condition such as ARVC is discovered in a family because of a sudden death in a seemingly healthy individual. This can cause extreme anxiety in surviving family members that presents a unique psychosocial challenge.

Another challenge in cardiogenetics is the vast number of genetic variants of uncertain significance that are frequently discovered when we test a large number of genes. Advances in genetic testing efficiency and cost has led to a greater understanding of the genes related to multiple cardiac conditions, but in recent years the approach to genetic testing has tended toward analyzing a very large number of genes (some of which have limited evidence associating them with cardiac disease) as a first line test. Sometimes, a well understood mutation is found that can provide the patient and their family with a clear cut answer. However, oftentimes the lab will find changes in one or several genes that it doesn’t yet know how to classify. These are called variants of uncertain significance. Variants of uncertain significance may be more or less suspicious depending on the gene they are discovered in and the particular presentation of the family in question, but regardless they can make a family very anxious if they are not explained in great detail. As counselors it’s vital to also make sure the patient’s cardiac care providers understand the limited clinical implications of a variant of uncertain significance.

What do you enjoy most about cardiac genetics?

I love cardiac genetics because there is always more to learn. Cardiac symptoms are a part of so many conditions, and no two families or patients present in exactly the same way. I enjoy working with cardiologists and electrophysiologists to incorporate multiple studies (EKG, echo, cardiac MRI, Holter monitor, etc) in the assessment of a patient’s cardiac profile to better understand how genetics could be contributing.

As difficult as delivering a positive genetic testing result can be, I particularly enjoy when the genetic answer we uncover can have a direct impact on cardiovascular management, from frequency of cardiac screening to exercise recommendations. Being able to provide a patient and family with the tools to preemptively manage their cardiac risks is extremely rewarding.

What part of your job do you find the most difficult?

In the cardiac realm, the psychosocial challenges presented by young people who are coming to terms with the fact that they have a greater risk of developing potentially dangerous cardiac issues are the most challenging for me. For instance, explaining to a 16 year old high school student that she is recommended to stop running long distances in cross country, when perhaps it is the thing that she most loves to do, is very difficult.

Another very challenging aspect of counseling for many inherited cardiac conditions is the uncertainty associated with disease progression. Rarely, a mutation is found that essentially guarantees that a patient or any family member that also inherited the mutation will develop certain symptoms at a certain age, but more the severity of many inherited cardiac conditions varies from person to person (even between family members who carry the same genetic mutation!), and unfortunately we do not often know what factors make the condition progress more quickly in some patients. This is hard to explain to families who want to know what they can do to mitigate their risks.

What advice do you have for students who might be interested in cardiac genetic counseling?

Working in the field of cardiogenetics is incredibly rewarding and challenging work. Genetic counselors are much needed in this setting and will be even more crucial as more and more individuals and families have access to genetic testing. My advice for students interested in this field would be to interview, shadow, and (if possible) volunteer with counselors who exclusively work in a cardiogenetics setting, particularly in specialized clinics. Understandably, right now these can be hard to find! Finding genetics providers willing to speak with students in their area through the “find a genetic counselor” is a good option. I would also recommend learning about the basics of the more common cardiac conditions with heritable components, including hypertrophic cardiomyopathy, dilated cardiomyopathy, ARVC, Brugada syndrome, Long QT syndrome, and catecholaminergic polymorphous ventricular tachycardia (CPVT).