Precision cardiovascular medicine prevents the development of heart diseases

Blood pressure genetic risk score can predict risk of heart attacks and stroke.

Nearly half of all American adults have elevated blood pressure or hypertension and high blood pressure contributes to 65 percent of cardiovascular deaths in the US. Now researchers at University of Alabama at Birmingham have used genomic information to create a blood pressure “genetic risk score”.

Longevity.Technology: Cardiovascular disease is the leading cause of death worldwide and is responsible for a significant burden of morbidity and mortality. As people age, their risk of developing CVD increases, making it a major contributor to the morbidity and mortality associated with aging. That there is a pressing need for research into CVD in order to identify effective strategies for prevention and treatment would seem obvious, but this research is particularly important as the global population is aging and the prevalence of CVD is expected to rise with it. However, having such an enormous number of people at risk brings extra problems – how can risks be quantified and determined on an individual basis? The answer could lie in understanding and leveraging genetic data.

Vibhu Parcha, MD and Pankaj Arora, MD

Exponential advances in genomic sequencing technology have enabled scientists to read the 3.4 billion letters that make up an individual’s DNA in a short period of time and use this information for research purposes; this means that information from a patient’s DNA can be used to identify their genetic risk of developing hypertension and potentially fatal cardiovascular events over a lifetime – part of a concept known as precision medicine.

A recent study led by investigators at the University of Alabama at Birmingham Division of Cardiovascular Disease, published in the American Heart Association’s journal Circulation: Genomics & Precision Medicine, could play a pivotal role in the era of 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 [1].

“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 researcher at the UAB Division of Cardiovascular Disease.

“Since we are born with these commonly occurring DNA changes, we carry the risk for hypertension and heart conditions throughout our lifetime, and genetic risk score determines this [2].”

The investigator team applied this score to over 21,000 American adult research participants who contributed to the Trans-Omics for Precision Medicine, or TOPMed, program, sponsored by the National Institutes of Health and National Heart, Lung and Blood Institute as part of the Precision Medicine Initiative. They found that the genetic risk score identified individuals at a higher risk of hypertension and was able to predict an individual’s risk of developing heart failure, stroke and heart attacks even when accounting for their traditional cardiovascular risk factors such as obesity, smoking, diabetes, lipid profile and blood pressure. This genetic risk score also provides an improvement in the prediction of an individual’s risk of these fatal events, especially among younger individuals.

“DNA is not your destiny,” Parcha said. “We can potentially mitigate our genetic risk for heart diseases by improving our lifestyle by reducing weight, increasing physical activity and stopping smoking and by controlling diabetes, blood pressure and cholesterol levels [2].”

According to Pankaj Arora, MD, associate professor in the UAB Marnix E Heersink School of Medicine’s Division of Cardiovascular Disease and the director of the UAB Cardiogenomics Clinic, the aim of the study is to advance precision cardiovascular medicine that helps understand how an individual’s lifestyles, behaviour, environment and genetic risk profile interact to affect their risk of developing hypertension, heart failure, stroke and heart attacks.

“In the current 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 heart events through a personalized approach based on their genetic risk [2].”

Arora says that generally genomic medicine does not have a good history of including individuals from minoritized populations in research and that therefore incorporating participants from marginalised populations is one of the biggest strengths of this research.

The future implications of this study include further investigations into the role of disseminating the genetic risk score results to improve blood pressure control and to motivate sustained lifestyle changes among younger individuals with high genetic risk of cardiac events.

The findings of the study were cross-verified in over 50,000 participants of 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 the representation of underrepresented communities in research and medicine. The UAB Cardiogenomics Clinic caters to patients from all backgrounds and socioeconomic backgrounds. The clinic uses resources like the genetic risk score evaluated in this study to get an understanding of the patient’s genetic history to help develop a personalised treatment plan based on their genetic results. The clinic provides a broad spectrum of cardiology health care services for people of all ages and those with all types of heart diseases in the southeastern US.


Photograph: Andrea Mabry / University of Birmingham at Alabama, Vector leart/Vectorstock