Heart Risks and Genetics Better Understood

Even before moving into the field of cardiogenetics, Sanford Health Genetic Counselor Kristen De Berg, MS, CGC, 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.

De Berg has a response.

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

De Berg 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 disease through improved screening and early treatment of certain inherited cardiovascular disorders.

De Berg is board-certified by the American Board of Genetic Counselors. Through cardiogenetics, genetic counselors like De Berg can look at families with a history of individuals 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 explains. “So if a family has a history of these abnormalities, there could be a genetic component.”

De Berg 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, De Berg is right there in the clinic, ready to talk to patients that day and discuss with them if the heart issues family members are having might have a genetic component.

The other common circumstance leading patients to seek out De Berg’s expertise begin with their relatives. Some people seek information after a relative has been diagnosed with a heart condition. Others have had relatives undergo genetic testing that revealed a hereditary (passed through the family) predisposition to a heart condition.

Families can find many benefits from genetic counseling, De Berg says, adding the 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, definitive testing is available to other family members. This testing may indicate if specific treatment plans can be developed and followed to reduce risks for developing the disorder.

“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.

Compared to other areas of genetics, cardiogenetics is in its infancy. But De Berg 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,” De Berg explains. “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, De Berg adds, 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 says. “Talk to your health care provider to see if genetic counseling is a good option.”

Call (605) 312-GENE to learn more.