From childhood to adulthood, family shapes individuals in obvious and subtle ways. From habits and interests to eye color and height, genes play a key role in influencing who people become.
But genetics do more than shape appearance and personality. Some heritable qualities are innocuous, but others can lead to health challenges that may impact not just one person, but an entire family over time. Disorders that affect the heart and blood vessels, including aortic disease, often run silently through families and even go undetected for long stretches of time.
Genetic disease can extend beyond just a single individual and affect family members across generations,creating uncertainty about who will be impacted, and when. Genetic counselors at the University of Florida Health Aortic Disease Center are helping to lead the future of personalized care.
Jill Hendrickson, M.S., MSSW, LCGC, and Ashley Smith, M.S., LCGC, both describe their work as helping individuals and families understand and adapt to the medical, psychological and familial implications of genetic disease. They review family medical histories, perform genetic risk assessments, determine whether genetic testing is appropriate and help patients understand what results mean for them and their family.
“There are not many centers that offer genetic counseling for cardiovascular issues, so it’s really an evolving space,” Hendrickson said. “We see a lot of patients who say, ‘I didn’t even know genetic testing was available for my diagnosis.’”
Genetic counseling has been a core part of the center’s practice since the center’s inception in 2018. It is one of few locations where genetic counseling and testing services are available for the aortic disease patient population in the state of Florida. While much of the focus for genetic testing has previously been on prenatal and pediatrics patients, cardiovascular genetics is a newer subspecialty that has grown rapidly alongside discoveries of genes linked to aortic disorders.
As part of a specialized, multidisciplinary team, genetic counselors have been integral in day-to-day workflow at the UF Health Aortic Disease Center. Researchers have rapidly developed professional guidelines, especially since uncovering genetic involvement in conditions like Marfan syndrome and other aortic diseases in the 2000s.
One of the most important things patients need when they meet a genetic counselor is sound guidance, so they can make informed decisions about their care.
“We take very complex genetic information and make it easier for patients to understand how it impacts them and their care,” Smith said. “What patients need most when they meet us is support and information.”
Another key component of the job is managing the varied emotional responses to genetic testing results from patients and families. Genetic testing does not always provide a straightforward yes or no answer. The reality is more nuanced: Genetic testing results can be positive, negative, uncertain or unexpected. Test results can come back negative despite there being a strong family history of disease simply due to the responsible gene not yet being discovered.
The hallmark of genetic counselor training is based on the premise that understanding the emotional component of genetic risk is central to providing quality genetic services. Patients are often referred for testing during stressful moments in their lives, sometimes after an urgent medical event.
“Sometimes patients come in after emergency aortic surgery without fully understanding what happened,” Smith said. “Sitting down, drawing diagrams and explaining basic concepts like what the aorta is and what genes are can make a huge difference.”
Patients need someone on their side who can explain what genetic testing is, why it was recommended and how it can benefit their families. Genetic counselors also guide patients through practical decisions such as selecting the right laboratory, navigating insurance and ensuring care stays aligned with current professional guidelines.
By combining science with compassionate care, they serve as an ongoing resource for patients and their health care providers. Counselors can also use genetic information to give informed care before a life-threatening medical event occurs.
“A good outcome is when a patient leaves feeling empowered,” Hendrickson said. “We want patients to feel like they understand what’s going on and what they can do to reduce risk for themselves and their families.”