Healthwatch 16: Genetic Testing and Heart Disease

ELYSBURG -- A woman from Northumberland County was close to having a heart attack and she didn't even realize it. She says she's alive to tell her story thanks to genetic testing.

Ten years ago, Jody Christ of Elysburg signed up for the MyCode Community Health Initiative, Geisinger's precision medicine project to conduct research based on genes.

She gave an extra blood vial during a routine blood draw at no cost and that was the end of it.

Fast forward to last January. Trying to get her high cholesterol down, Jody started walking and riding a stationary bike.

"Ten minutes in, I would feel this sensation down my arm and I would feel nauseous and just not feel good," she recalled.

She'd lie down and let it pass, which it always did. But it was around this time that Jody got a phone call from the MyCode team. Members set her up with a genetic counselor and a cardiologist.

"By May 11, I was having triple-bypass surgery."

Jody didn't just have high cholesterol -- she had familial hypercholesterolemia or FH, according to Dr. Michael Friscia.

FH is an inherited disorder marked by very high cholesterol levels, which narrows the arteries, and can't be eliminated by diet and exercise alone.

Dr. Friscia says Jody was at significant risk of heart attack or stroke at just 60 years old.

"In her case, the right coronary artery was already completely blocked and she didn't even know it," said Dr. Friscia.

Dr. Michael Murray calls Jody's story a success story. He's director of clinical genomics for the MyCode project.

"FH is a great example. When someone is found to have that, there's lots of medicine that can be used to control cholesterol and get it to a safer level," Dr. Murray said.

Dr. Murray explains that researchers are focusing on genetic issues medicine can do something about, should an abnormal result be found.

In many cases, their results don't just affect the patient, but their entire family.

"You're getting the result, but the most important thing about it might be for your sister or brother or child," said Dr. Murray.

That's the case with Jody whose daughter and grandkids are now being tested for FH.

She admits those test results probably saved her life.

"Had I not known that, I would have just been going back, getting in trouble for not getting my cholesterol down."

Doctors reminded us that MyCode is a research project. The results that they're returning to patients are just an added benefit, and those results might take a while to get to you, if anything is found at all.

Geisinger is still enrolling patients in the MyCode project. If you're a Geisinger patient, you can ask your doctor about being part of it.