Dec. 27, 2018

This paid piece is sponsored by Sanford Health.

Even before moving into the field of cardiogenetics, genetic counselor Kristen DeBerg 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.”

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 if 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 said. “So if a family has a history of these abnormalities, there could be a genetic component.”

Sanford Chip

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, which can help you identify any possible genetic conditions you may have.

By notifying your doctors about any of the following, they can help refer you to a genetic counselor, so you can get 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.
• If your parents or grandparents had a stroke or heart attack.
• If your parents or grandparents have been diagnosed with heart disease and their age when they were diagnosed.
• Risk factors in your family, such as high cholesterol or high blood pressure.

Genetics can help doctors try to figure out if there is a connection between the personal medical history and the possibility for a hereditary condition in the family.

Role of cardiac genetic testing

For many families, the search for answers to their genetic heart problems can take years. This leaves them not only frustrated but also without the knowledge needed to provide a proper care plan.

DeBerg reviews the patient’s family history and identifies if there may be a hereditary cardiac condition at play. She explains her role as solving a puzzle and 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 can allow patients to be aware of their heart health and seek treatment. Through genetic testing, many people have been able to gain awareness for themselves and their family members.

One patient, Eric Dimmer, went to his doctor after his mother died of hypertrophic cardiomyopathy. Upon a consultation, he decided to go through cardiac genetic testing and found out he has Fabry disease. The inherited disorder results 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.

Through cardiogenetics, Dimmer was able to inform his families members, which ensured both he and they got the medical attention they need.

Another patient, Jessica Pickett, went to her physician to discuss her high cholesterol. She was referred to a cardiologist and then a genetic counselor. They wanted to see if a genetic disorder was at play, and there was.

Pickett found out through her testing that she has FH. This means mutations in her genes make her body unable to remove excess LDL cholesterol. This diagnosis allowed for Pickett’s doctor to prescribe specific cholesterol medication for people with high cholesterol, which significantly lowered her levels.

“It’s a truly wonderful thing that we can use genetics to save people’s lives,” said Dr. Tom Stys, 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 patients are in the clinic to see their cardiologist, the cardiologist 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 with them if the heart issues family members are having might have a genetic component through cardiogenetics.

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

Families can find many benefits from genetic counseling, DeBerg said, 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 and followed.

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

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 for cancer 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 said. “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 importantly, DeBerg said, is to take any concern about your heart health and overall well-being seriously.

“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 said. “Talk to your health care provider to see if genetic counseling is a good option.”