A Heart Matter
GRACE study gives answers to a family with questions surrounding heart health.
Terri Reynolds’ family has reason to worry about matters of the heart. It began when her brother died from heart failure at just 29 years old.
“My brother died in 1996 of idiopathic cardiomyopathy,” Reynolds said. “He went into heart failure and things went from bad to worse — nobody could figure out why.”
Years later, she experienced an almost identical medical event. Reynolds became ill with a virus and went into heart failure. Doctors advised her family to prepare for the possibility of death.
Yet, Reynolds survived, despite the odds against her. The experience alerted her and her cardiologist that this could potentially be something genetic that needed to be watched.
A primary care visit at UF Health Family Medicine – Lem Turner introduced her to a study that would provide answers to questions that had gone unanswered for years. Her physician recommended she participate in the GRACE R01 study, funded by the National Institutes of Health, or NIH.
Alexander Parker, PhD, a senior associate dean for the Office of Research Affairs at the University of Florida College of Medicine – Jacksonville, believes the study can offer future families great benefits.
“Instead of waiting for disease to show up, we’re learning how to use genetic information responsibly and practically in primary care to identify those individuals at higher risk of certain cancers and heart diseases earlier,” Parker said.
“By doing so, we help patients and their families take action sooner,” he said. “The funding from the NIH allows us to be the only health care system in our city doing this kind of routine, proactive genetic testing in primary care. It reflects our commitment to disease prevention and not just treating illness once it appears.”
An image of Terri Reynolds, a participant in the GRACE study funded by the National Institute of Health, or NIH.
Patient-centered research that makes a direct impact and improves quality of life is the goal —and for some individuals, like Reynolds, the research may take months versus years.
“I thought it would help solve a family mystery,” Reynolds said. “I was also pretty excited because I used to be a qualitative interviewer for research studies, so it was interesting meeting the criteria and being able to be a participant.”
Upon signing up, the research team at the University of Florida College of Medicine – Jacksonville mailed Reynolds a kit resembling that of mainstream genomics and biotechnology companies.
“It was really easy. You followed the instructions and sent a saliva sample back to them,” Reynolds said. “Sometime later, the reports came out and a team member called to discuss the results with me.”
The results showed that she tested positive for a gene variant that increases the risk of cardiomyopathy, which is lifesaving information for someone like Reynolds, who in the past had her symptoms dismissed.
As a next step, Reynolds was immediately referred to a cardiologist for further treatment. Her relatives underwent cascade testing. According to the Center for Disease Control and Prevention, or CDC, this form of testing is a way to determine if family members share the same genetic condition before they show symptoms. It was confirmed that multiple family member tested positive for the same variant.
“This study did more than answer a question,” Reynolds said. “It took out the mystery. No, it didn’t bring anybody back and it didn’t change my medical history, but it gave us an answer that will help me and my family make informed health decisions that can save our lives. We are so grateful for that.”
Reynolds is continuing with enhanced monitoring at UF Health practices. Her family is also engaging in enhanced screenings.
The GRACE study is no longer enrolling patients in the study. Ask your primary care provider about your options for genetic testing.
