Simple genetic test shows promise for better outcomes in heart stent patients

Jose Rivas, MD, a postdoctoral research associate at the University of Florida College of Medicine – Jacksonville, performs a genetic swab on a cardiovascular patient.
Researchers load samples into the Spartan Cube device, which analyzes the DNA and provides results in about an hour.
A special scanner and computer accompany the Spartan Cube device.

A quick, precise genetic test can significantly reduce the risk of cardiovascular events by helping to identify more effective medication for some heart patients, a group led by University of Florida Health researchers has found.

The test identifies a genetic deficiency that affects the body’s ability to activate clopidogrel, a common anti-clotting drug given after a coronary artery stent is inserted. During a recent study from the National Institutes of Health’s Implementing Genomics in Practice (IGNITE) Network, researchers at UF Health Jacksonville and other sites throughout the country analyzed medical outcomes in 1,815 patients who had genetic testing at the time of their cardiac procedure. The genetic testing allows physicians to pinpoint the best anti-clotting medication for each patient.

Dominick Angiolillo, MD, PhD, director of cardiovascular research at the University of Florida College of Medicine – Jacksonville, is leading the study of UF Health Jacksonville patients undergoing stent procedures.

“We’re looking at how key blood-thinning medications exert their effects,” Angiolillo said. “For stent-procedure patients, if you cannot activate the drug as well, it increases the likelihood of a heart attack.”

The genetic testing is done on campus via a mouth swab, which is analyzed by a DNA-testing device called the Spartan Cube. Results are available in about an hour, making it convenient for patients. The rapid results also enable physicians to make decisions about treatment while those patients undergo their stent procedures.

Angiolillo says it is well documented that about 30 percent of the population has a variant in a gene, which then leads to reduced activation of clopidogrel. However, what’s unclear is whether this leads to different outcomes in patients treated with that medication. The prevalence of this variant differs by race and is most common among people of African and Asian descent. When it is detected, an alternative treatment approach is often used.

Pioneering research

Angiolillo is among a group of UF Health cardiologists in Jacksonville who perform the testing, which is being offered to all stent-procedure patients. The study, one of the first of its kind in the United States, is funded through a grant from the National Institutes of Health as part of the IGNITE genomic medicine implementation network and the UF Clinical and Translational Science Institute.

Since the study began in April, nearly 400 patients have undergone genetic testing at UF Health Jacksonville. The goal is to enroll about 2,500 patients total over the next two years.

The gene being tested may be tied to responses to other classes of medications. Therefore, the information may serve additional clinical purposes. Genetic test results will remain in patients’ medical records.

“We’re implementing this as a standard-of-care test to all our patients undergoing stent procedures,” said Angiolillo, whose genetic testing is the latest effort in his long line of research and clinical trials involving antiplatelets that have spanned more than a decade.

This current study is being conducted in collaboration with the UF Health Personalized Medicine Program, which is directed by Julie Johnson, PharmD, dean and distinguished professor of the UF College of Pharmacy in Gainesville. Johnson is also principal investigator of UF’s IGNITE grant.

“This is a nice example of how collaborative efforts between the UF colleges and our two campuses have allowed for more effective ways to enhance health care,” Angiolillo said.

Featured Faculty

Dominick J. Angiolillo, MD, PhD, FACC

Dominick J. Angiolillo, MD, PhD, FACC

Chief, Division of Cardiology; Medical Director, UF Health Cardiovascular Center - Jacksonville; Medical Director, Cardiovascular Research Program; Program Director, Interventional Cardiology Fellowship