Study to Advance Precision Medicine for Cardiovascular Disease

A team from Baylor College of Medicine’s Human Genome Sequencing Center is working to advance precision medicine by determining patients’ genetic risk factors for cardiovascular disease.

As part of the HeartCare study, which is open to adult patients of participating Baylor cardiologists, individuals will undergo genetic testing to identify genes that influence risk for cardiovascular disease and related conditions.

Patients interested in participating in the study will be asked to give a blood sample and provide written consent to participate. Geneticists at the Human Genome Sequencing Center will then sequence patients’ DNA, analyzing 158 genes that could affect patient health.

HealthCare tests for genetic risk of aortic aneurysms, cardiomyopathies, arrhythmias, high cholesterol, medication sensitivity, and other conditions. Researchers return the results to providers, who review the findings and develop a care plan if one is needed. For participants who test positive for a risk gene, genetic counseling services are available.

The goal of the study will be to provide personalized, preventive care, researchers stated.

“Genomics has the potential to drive precision medicine. Some cardiovascular risk factors can be predicted or detected through genomic methods, making treatment options specific to each person,” said Dr. Richard Gibbs, Wofford Cain Chair and professor of molecular and human genetics and director of the Human Genome Sequencing Center.

“This program provides the perfect opportunity to introduce genomics into the adult clinical care system. It can potentially shift the paradigm from reactive care to risk prediction.”

Cardiovascular disease is the leading cause of death among men and women in the US, Baylor researchers noted. The team cited a recent study from the American College of Medical Genetics and Genomics which found that about one person in 20 has a risk of developing a hereditary cardiovascular disease.

Hundreds of patients have already undergone testing through the HeartCare study, and some have received results that may impact their clinical care, including diet, lifestyle, and exercise changes, as well as further genetic testing for family members.

Study leaders plan to test 5,000 patients over the next few years and are seeking to implement genetic testing on a much larger scale. Ultimately, the goal will be to perform genetic testing earlier, before a patient presents with heart disease at their cardiologist’s office.

“We’re focusing on adults, but the methods will ultimately be useful for children as well,” Gibbs said. “If you can predict cardiovascular disease at an early age, then you can intervene.”

The industry has experienced a precision medicine boom in the last few years, with leading organizations seeking to integrate genomics and genetic testing with routine clinical care. Massachusetts General Hospital (MGH) recently launched a Preventive Genomics Clinic, which will help advance precision medicine and preventive care by leveraging genetic data.

“It’s exciting to know we can now support access to genomics long before disease develops, promoting the best outcomes for our patients,” said Heidi Rehm, PhD, chief genomics officer at MGH.

“Our goal is to build this resource for our own community and collaborate with other hospitals across the country in defining the best models for this new type of preventive clinical care.”

The findings from the HeartCare study will help inform cardiovascular disease care and further accelerate precision medicine discoveries.

“So often in cardiovascular disease, we look at the symptoms and make a probable diagnosis. Now we have the ability to tell people exactly what they have,” said Dr. Christie Ballantyne, professor of medicine and chief of the sections of cardiology and cardiovascular research at Baylor. “It’s remarkable the impact genetics can make in cardiovascular care.”