Researchers use precision cardiovascular medicine to prevent the development of heart disease

Written by: Tehreem Khan
Media Contact: Anna Jones

Vibhu Parcha, MD, and Pankaj Arora, MD Photography: Andrea Mabry
Nearly half of all American adults have high blood pressure or hypertension. High blood pressure contributes to 65% of cardiovascular deaths in the United States. Exponential advances in genome sequencing technology have allowed scientists to read the 3.4 billion letters that make up an individual’s DNA in a short time and use this information for research purposes.

Researchers are now using information from a patient’s DNA to identify their genetic risk for developing hypertension and life-threatening cardiovascular events – a concept known as precision medicine.

A recent study by researchers from the Division of Cardiovascular Diseases at the University of Alabama at Birmingham, published in the American Heart Association’s journal Circulation: Genomics & Precision Medicine, may play a pivotal role in the era precision cardiovascular medicine.

This study used genomic information from nearly half a million individuals from multiple racial and ethnic backgrounds to create a blood pressure “genetic risk score” that captures an individual’s genetic risk for high blood pressure.

“Commonly occurring changes in our DNA form the composite genetic risk score for hypertension in an individual,” said Vibhu Parcha, MD, first author of the study and a researcher in UAB’s Division of Cardiovascular Diseases. “Since we are born with these common DNA changes, we carry the risk of hypertension and heart disease throughout our lives, and the genetic risk score determines that.”

The team of investigators applied this score to more than 21,000 US adult research participants who contributed to the Trans-Omics for Precision Medicine, or TOPMed, program sponsored by the National Institutes of Health and the National Heart, Lung and Blood Institute as part of the Precision Medicine program. Initiative. They found that the genetic risk score identified people at higher risk for hypertension and was able to predict individual risk of developing heart failure, stroke and heart attack, even when taking into account their factors. traditional cardiovascular risk factors such as obesity, smoking, diabetes, lipid disorders. profile and blood pressure. This genetic risk score also helps to improve the prediction of an individual’s risk of these fatal events, especially in younger individuals.

“DNA is not your destiny,” Parcha said. “We can potentially lower our genetic risk for heart disease by improving our lifestyle by reducing weight, increasing physical activity and quitting smoking and controlling diabetes, blood pressure and cholesterol levels.”

The goal of the study is to advance precision cardiovascular medicine that helps understand how an individual’s lifestyles, behavior, environment, and genetic risk profile interact to affect their risk of developing hypertension, heart failure, stroke, and heart attack.

“In today’s era of precision cardiovascular medicine, we want to have an individualized assessment of a person’s risk of fatal cardiac events,” Arora said. “This allows us to focus our efforts on preventing fatal cardiac events through a personalized approach based on their genetic risk.”

Arora says, generally, genomic medicine doesn’t have a good history of including individuals from minority populations in research. The inclusion of participants from marginalized populations is one of the greatest strengths of this research. Future implications of this study include further investigations into the role of dissemination of genetic risk score results in improving blood pressure control and in motivating sustained lifestyle changes in younger people at risk. high genetics of cardiac events.

The study results were cross-checked with more than 50,000 participants in the National Institutes of Health-sponsored All of Us research program and the Action to Control Cardiovascular Risk in Diabetes trial database.

Arora says UAB has been a leader in increasing representation of underrepresented communities in research and medicine. The UAB Cardiogenomics Clinic welcomes patients from all backgrounds and socio-economic backgrounds. The clinic uses resources such as the genetic risk score assessed in this study to understand the patient’s genetic history to develop a personalized treatment plan based on their genetic results. The clinic offers a wide range of cardiology health care services for people of all ages and those with all types of heart disease in the southeastern United States. Make an appointment today by visiting uabmedicine.org or by calling 205-934-9999.