Washington University Researchers Explore New Direction in Cardiometabolic Precision Medicine Screening

This precision medicine screening targets genetics and lifestyle factors in cardiometabolic health, could reveal opportunities for early intervention in the cardiometabolic disease process

With the goal of creating individual-specific risk profiles, Washington University School of Medicine St. Louis researchers want to identify how genetic and lifestyle factors interact as part of the disease process, in particular with cardiometabolic diseases.

Seen connected to a wide range of endocrine, metabolic, and cardiovascular health problems, cardiometabolic diseases are implicated in high and rising mortality rates among working-age adults, report authors at The National Academies Press this year as part of a summary of troubling health trends.

“As we move into precision medicine and sequencing becomes available for lower and lower costs, it’s important we expand our knowledge about these individuals,” Christie M. Ballantyne, MD, FNLA, professor of medicine, molecular and human genetics and molecular physiology and biophysics; director of the Maria and Alando J. Ballantyne, M.D. Atherosclerosis Clinical Research Laboratory; director of the Center for Cardiometabolic Disease Prevention; co-director of the Lipid Metabolism and Atherosclerosis Clinic; the J. S. Abercrombie Chair in Atherosclerosis and Lipoprotein Research; and chief of cardiology and cardiovascular research at Baylor College of Medicine, told Healio Cardiology, which recently spotlighted the 16th Annual Cardiometabolic Health Congress.

An estimated 47 million people in the US live with cardiometabolic disorders, meaning they are at increased risk of developing heart disease or type 2 diabetes, according to the American College of Cardiology. Cardiometabolic disorders represent a cluster of interrelated risk factors, primarily hypertension, elevated fasting blood sugar, dyslipidemia, abdominal obesity, and elevated triglycerides.

As a result, a number of initiatives, including a call for the development of cardiometabolic medicine as a specialty, are in progress not only to monitor the impacts and drivers but to develop breakthrough therapies and improve outcomes related to the spectrum of cardiometabolic disease and its interconnected conditions. Tests to assess risk, screen, diagnose, predict, and monitor cardiac disease are essential tools.

Genetic Screening for Specific Diseases Gaining Momentum

Using genetic information in individual health surveillance and routine preventive medicine is still a new concept that is not without issues. However, paving the way for others is the country of Australia, which recently began a nationwide initiative offering screening for genetic cancers to everyone in the country between ages 18-40. In addition, Mayo Clinic showed in recent research that universal genetic screening for cancer patients led to changes in treatment plans for one-third of patients when compared to guideline-direct targeted screening.

Adding yet another layer of personalization to precision-medicine based screening, researchers at the Washington University School of Medicine in St. Louis will combine genetic screening with lifestyle risk factors to understand the interplay of the two factors in cardiometabolic disorders.

Funded by the National Institutes of Health (NIH), an $8.8 million study at Washington University will include data from over 1.2 million people. This large-scale gene-lifestyle interaction study will build on previous research and create a more comprehensive personalized risk profile for identifying at-risk patients who could benefit from further testing and treatment related to cardiometabolic disease.

Gene-Lifestyle Interactions and Cardiometabolic Health

As part of the NIH-funded study, Washington University researchers will focus on gene-lifestyle interactions to identify individuals at risk for cardiometabolic diseases such as type 2 diabetes and heart disease.

C. Charles Gu, PhD (far left), D.C. Rao, PhD (middle), and Lisa de las Fuentes, MD (right), of Washington University School of Health in St. Louis are studying gene-lifestyle interactions in cardiometabolic health.

“The study aims to identify new gene-lifestyle interactions that contribute to cardiometabolic disease risk, and to better understand the molecular mechanics underlying these interactions,” co-investigator C. Charles Gu, PhD, professor of biostatistics, of genetics, of psychiatry and of mathematics, said in a recent press release. “By detailing associated molecular biomarkers and traits, such as DNA methylation, gene expression and metabolites, the study could reveal new opportunities for disease intervention.”

One important consideration for researchers was ensuring that the data included a large sampling from diverse groups. “By investigating genomic and lifestyle contributors to cardiometabolic health through their interactions across genders and diverse populations, our research can help advance the emerging field of precision medicine,” explained principal investigator D.C. Rao, PhD, professor of biostatistics, of genetics, of psychiatry, and of mathematics.

While the primary goal of Washington University’s project will be to develop precision medicine-based screening methods, the team also hopes that the findings will lead to many other benefits. “Our findings could reveal new diagnostic and therapeutic tools, identify targets for novel drug development and serve as the foundation for a more precise, more personalized approach to health care for heart disease, diabetes, and other metabolic diseases,” said Lisa de las Fuentes, MD, a professor of medicine and of biostatistics and co-investigator for the study. “This project has high potential to move the field forward.”

As precision medicine screening becomes more advanced and ubiquitous, hospitals, physician networks, and other specialists may together see an opportunity to improve patient care and add revenue by participating in new coordinated care models for cardiometabolic disease. Early intervention through precision medicine screening could play an essential role in coordinating care and improving outcomes.

—Caleb Williams

Related Information:

Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome

Research to explore how genes, other factors affect cardiometabolic disease risk

D.C. Rao, PhD

C. Charles Gu, PhD

Lisa de las Fuentes, MD

High and Rising Mortality Rates Among Working-Age Adults (2021)

16th Annual Cardiometabolic Health Congress

Cardiometabolic Initiatives

More Research Diabetes and Cardiometabolic Disease

Comprehensive Care Models for Cardiometabolic Disease

Advancing Value-Based Cardiovascular Care