When I completed graduate school, I wanted to fuel my passion for research. My first job as a genetic counselor was working for a research study that investigated the genetic basis of congenital heart defects (CHDs). This research study took me all over the hospital, but most of my time was spent in the Cardiac Intensive Care Unit (CICU).

At first, I knew very little about heart defects in general, let alone the various genes that contributed to their development. Over time, I became familiar with all the abbreviations and terminology and even learned how to recognize a few structures on an echocardiogram, a type of ultrasound used to look at the structure of a person’s heart.

At the CICU, I saw families in their best moments, after the birth of their baby, and in their worst, when dealing with the fact that their new baby had a heart defect. While my job was to invite them to participate in a study, I found myself doing so much more. Parents overwhelmingly asked me, “Why did this happen” and “If I have more kids, what is the chance this will happen again?” I would sit with the families and explain what I knew about genetic causes of CHDs, review their family history for clues that it might be familial, and discuss screening options to assess the health of future babies.

I also had the opportunity to educate nurses and doctors-in-training, mostly cardiologists, about genetics. Heart defects can occur in isolation or as part of a genetic syndrome. When a baby was born, I would often help direct the physicians as to what was the best genetic test to order. It can be confusing to navigate all the genetic tests that are available, especially if it’s not something that you do every day. On the flip side, I wouldn’t want to have to interpret an echocardiogram or an EKG like a cardiologist!

As my knowledge of heart structures and function grew, I found myself as the “go-to” person for the Cardiac Center whenever anyone had questions about cardiac genetics. Eventually, I helped create the Cardiovascular Genetics Clinic within the Cardiac Center. I, along with a pediatric geneticist, and a pediatric cardiologist saw patients and conducted screening for other family members. Having a genetic diagnosis can not only help provide answers for families about why the heart problem occurred and possible recurrence risks, but can also help direct treatment.

I realized that while this is not a typical role for a genetic counselor, there is a significant need for our services in Cardiology, as there is in various other branches of medicine. To understand what a genetic counselor can do for you, visit the National Society of Genetic Counselors website.

Jennifer Garbarini

Jen is a licensed and board-certified genetic counselor at CooperGenomics. She has a background in research and pediatric cardiovascular genetics. Prior to joining CooperGenomics, Jen worked at The Children’s Hospital of Philadelphia’s Division of Cardiology as both a research coordinator for a large multi-center study and as a clinical genetic counselor. She received her B.S. in Biology from Ursinus College and her M.S. in Genetic Counseling from Arcadia University. Jen remains active with Arcadia’s genetic counseling program and has served as a clinical supervisor, instructor and thesis advisor for Arcadia students. Outside of work, she enjoys watching her two boys play sports, reading and going to the beach.