Cardiogenetics helps answer questions about the heart

Genetics and heart disease: "It’s a truly wonderful thing that we can use genetics to save people’s lives."

cardiogenetics uses genetic testing to look for heart illness

Even before moving into the field of cardiogenetics, genetic counselor Kristen DeBerg, M.S., with Sanford Imagenetics, heard a similar refrain from countless patients.

“I’m either going to die of cancer or a heart attack,” they’d matter-of-factly say.

DeBerg has a response.

“Well, let’s see if we can change that,” she says.

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DeBerg is working to make that change through cardiogenetics. Her field of expertise is opening the door to answers about how genetics plays a role in heart illness through improved screening and early treatment of certain inherited cardiovascular disorders, as it already has with cancer patients. This means that if people in your family have a history of heart problems, there’s a chance you could, too.

DeBerg is board-certified by the American Board of Genetic Counselors. Through cardiogenetics, counselors like DeBerg can look at families with people affected by similar cardiac issues — from irregular heartbeats to heart diseases to cases of unusually elevated cholesterol — and investigate whether a genetic variant is at play.

“Having a heart attack at a young age is not normal. It’s not normal to die at age 40 or 50 from a cardiac condition,” she says. “So if a family has a history of these abnormalities, there could be a genetic component.”

Sanford Chip blood test

If there is a history of cardiac disorders in your family, make sure to notify your doctors. Sanford Health also now offers the Sanford Chip, a blood test that can help identify genetic conditions you may have.

By notifying your doctors about any of the following, you can be referred to a genetic counselor for a more in-depth look at your heart health:

  • Diseases or conditions that people in your family have, such as blood clots, heart valve disease or irregular heart rhythm
  • Strokes or heart attacks your parents or grandparents had
  • Heart disease and their age when parents or grandparents were diagnosed
  • Risk factors in your family, such as high cholesterol or high blood pressure

Genetics can help doctors find a connection between personal medical history and the possibility for a hereditary condition.

The role of cardiac genetic testing

For many families, the search for answers to genetic heart problems can take years. This leaves them frustrated and lacking knowledge for proper care.

DeBerg reviews family histories and identifies hereditary cardiac conditions. She explains her role as solving a puzzle — trying to put the right pieces together to get an answer.

Inherited heart disease is more common than once thought, which means genetic counseling is more important than ever. Cardiogenetics is helping provide answers to patients and give them the means necessary to deal with their condition.

Key to heart health

Testing makes patients aware of their heart health so they can seek treatment and inform family members.

One patient, Eric Dimmer, went to his doctor after his mother died of hypertrophic cardiomyopathy. After a consultation, he decided to go through cardiac genetic testing and learned he has Fabry disease.

Fabry disease is an inherited disorder resulting from the buildup of a particular type of fat in the body’s cells. Even in childhood, this buildup starts to cause symptoms that affect many different parts of the body.

With the help of cardiogenetics, Dimmer was able to inform his loved ones, ensuring the entire family got the medical attention they need.

Another patient, Jennifer Pickett, went to her physician to discuss her high cholesterol. She was referred to a cardiologist and then a genetic counselor.

Pickett learned through her testing that she has familial hypercholesterolemia (FH). This means mutations in her genes make her body unable to remove excess LDL “bad” cholesterol. This diagnosis allowed for Pickett’s doctor to prescribe specific medication which significantly lowered her levels.

“It’s a truly wonderful thing that we can use genetics to save people’s lives,” says Tom Stys, M.D., a Sanford Health cardiologist. “This will not only help Jessica, but we can help her children and other family members by screening them. And, if diagnosed with FH, apply early intervention and hopefully prevent them from developing premature cardiovascular disease.”

Goal is to raise awareness

DeBerg generally sees patients in a couple of different circumstances. When people are in the clinic to see their cardiologist, the doctor may recognize a pattern of heart issues in the family. In these cases, DeBerg’s right there in the clinic to talk to patients that day and discuss whether family heart issues might have a genetic component.

The other most common circumstances leading patients to seek DeBerg’s expertise begin with relatives. Some do so after a family member has been diagnosed with a heart condition. Others have had loved ones undergo testing that revealed a genetic predisposition to a heart condition.

Families can find many benefits from genetic counseling, DeBerg says, adding that genetic counseling doesn’t necessarily always include testing. Families can learn that additional members are at higher risk of a certain condition. If a certain genetic variation is identified in an affected family member, specific treatment plans can be developed.

“Our intentions are not to scare people, rather to raise awareness that these conditions exist and even if someone is completely healthy and asymptomatic, a screen can still be warranted,” she says.

Cancer success

Compared to other areas of genetics, cardiogenetics is in its infancy. But DeBerg sees parallels between how genetics has changed cancer treatments and its potential to do so for heart patients.

Early genetic tests primarily focused on helping identify family members who might be at risk for certain types of cancer. Likewise, these early stages of cardiogenetics primarily assist in identifying family members who might be at risk for inherited heart conditions.

“Now, there are certain chemotherapies that are effective against certain genetic variants,” DeBerg says. “And it’s very possible that cardiology might move in that direction. I certainly could see in the future if someone has a cardiomyopathy — which is what I see the most of right now — it’s very possible there could be specific medications to treat certain genetic variants.”

Most important, DeBerg says, is to take seriously any concern about your heart health and overall well-being.

“If you’re concerned about the history in your family or about your own health, it’s not wasting anyone’s time to ask the question,” she says. “Talk to your health care provider to see if genetic counseling is a good option.”

Originally posted in December 2018.

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Posted In Genetics, Health Information, Healthy Living, Heart, Innovations

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