Genetic testing is next step for at-risk patients with family history of cardiovascular issues

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With the advance of DNA sequencing over the past decade, the depth and breadth of genetic testing has grown across medical specialties and cardiology is no exception.

“This is a huge up-and-coming field within cardiology and cardiovascular care in general and I think it’s really going to change the landscape of healthcare over the next couple of decades,” said Dr. Amanda Coniglio, M.D, a cardiologist at Rochester Regional Health (RRH) who specializes in cardiovascular genetics.

RRH began offering cardiovascular genetic testing around 2018 but brought Coniglio onboard in 2023 to start a comprehensive cardiovascular genetics clinic for more expansive testing and genetic counseling.

“RRH’s cardiac genetic testing program is the first in the region to offer a comprehensive genetic evaluation and testing by a team specialized in cardiovascular diseases,” Coniglio said. “Outside of Rochester, the closest centers are in New York City and Pittsburgh.”

Testing is available to anyone in New York State. It can be done one of two ways: on-site within RRH’s heart failure clinic via blood testing or a cheek swab or via a kit that can be sent to a patient for at-home cheek swabs.

“Anybody with a family history of very high cholesterol, heart disease, heart failure, aneurysms, dissections, or sudden death, particularly at young ages, qualifies for genetic testing, “Coniglio said. “And I think it’s super important to be evaluated for those things.”

The reasons Coniglio gives as to the importance of cardiac genetic testing include the prevention of morbidities over time, as well as providing potentially lifesaving information to family members.

A graduate of the University of Rochester School of Medicine, Coniglio completed her fellowship at Duke University, which is home to one of the largest cardiovascular programs and heart transplant centers in the country. It was at Duke that Coniglio’s interest in cardiovascular genetics took hold when she realized many of her patients had genetic ideologies to their heart failures.

“So many of my patients were my age,” Coniglio said. “They were in their twenties and thirties, and coming in with horrible heart failure, and being transplanted. They were telling me about how their parents or somebody in their family also died in their thirties when they didn’t get appropriate care.”

These interactions sparked Coniglio’s passion and desire to expand opportunities for patients to have access to cardiovascular genetic testing.

“There are so many people out there that have these diseases that can be prevented if we find out about them early enough,” she said. “I have been trying throughout my career to raise awareness for this; to find these things early so that people and family members can live a normal life without cardiovascular complications.”

Coniglio encourages people who have a family history of inherited heart conditions or who have no family history of disease but have been diagnosed with certain heart conditions by their primary care team or cardiologist, to look at the process as one of empowerment, not fear.

RRH’s clinic testing is typically a two-part process. If testing is recommended, results typically take about 4 to 6 weeks to return and are reviewed and discussed together. Depending on the results, the RRH team can also help plug the patients in with additional resources and care.

“Genetic testing is typically covered by insurance companies,” Coniglio said. “The genetic testing companies have programs for financial assistance if testing is not covered by insurance or if patients are unable to afford their out-of-pocket cost.”

Another important part of cardiovascular genetic testing is genetic counseling, says Dr. Leway Chen, the medical director of UR Medicine’s Advanced Heart Failure program and the founder of the institution’s heart transplant program.

Among the many roles genetic counselors have, Chen says, are helping explain results, talking through a myriad of emotions a patient may have, answering questions related to family planning, and providing additional resources and support.

“I think anybody who’s getting genetic testing should have that counseling … to talk about the implications and what they mean,” Chen said. “The genetic counselors know what goes through patients’ and families’ minds when they’re getting testing and they’re really skilled at dealing with them.”

Chen says genetic testing has evolved considerably in the last ten years due to the sequencing of the entire human genome and that scientists are constantly finding new genes that are implicated in different diseases.

“In our field, particularly in heart failure, we have been interested in the genes that cause abnormal heart rhythms, arrhythmias, and the genes that cause cardiomyopathy or dysfunction of the muscle of the heart,” Chen said. “We’ve come a long way now to where more genes are being identified and it is more helpful to get testing.”

While cardiovascular genetic testing has evolved, Chen cautions that it is not appropriate or necessary for everyone and there are challenges, like discrimination against genetic findings, false positives and negatives, and cost if you must pay out of pocket without financial assistance.

“There definitely has to be a very focused reason why to get the test,” Chen said. “I highly encourage that nobody gets a test without genetic counseling and guidance from a physician.”

For more information on RRH’s Cardiovascular Genetics Program email [email protected] or visit https://www.rochesterregional.org/services/heart/cardiovascular-genetics.

For more information on cardiogenetic testing via URMC’s Division of Genetics visit https://www.urmc.rochester.edu/medicine/genetics/patient-care.aspx.

Caurie Putnam is a Rochester-area freelance writer.