Mass General Brigham Launches Genetic Test Developed in Collaboration with Broad Clinical Labs to Predict Risk Across Eight Cardiovascular Conditions

BOSTON, Sept. 3, 2025 /PRNewswire/ -- In a step forward for genomic-driven preventive medicine, Mass General Brigham Personalized Medicine and the Massachusetts General Hospital's Cardiovascular Disease Prevention Center and Center for Genomic Medicine today announced the launch of an innovative genetic test designed to estimate an individual's inherited risk for eight chronic cardiovascular conditions. The clinician-ordered test is now available to patients on a self-pay basis.

Developed in collaboration with the Broad Clinical Labs and the Mass General Brigham Laboratory for Molecular Medicine (LMM), the test integrates advanced genomic insights with clinical-grade reporting to provide a comprehensive view of a patient's inherited cardiovascular disease risk.

This tool assesses an individual's genetic predisposition to a range of common and serious health conditions, including atrial fibrillation, coronary artery disease, type 2 diabetes mellitus, elevated lipoprotein(a), hypercholesterolemia, hypertension, thoracic aortic aneurysm, and venous thromboembolism. By identifying inherited risk factors, the tool supports earlier intervention and more personalized approaches to disease prevention and management.

Grounded in Large-Scale Genomic Science

The development of the test draws on genotype and clinical data from 236,393 participants in the NIH's All of Us Research Program, one of the most comprehensive population health efforts in the United States. Researchers curated and integrated publicly available polygenic risk scores (PRS) for each condition, and then applied a statistical approach known as PRSmix—an elastic-net modeling technique that combines multiple component PRS into a single, integrated score for each disease. This method improves both predictive accuracy and stability over individual PRS models.

To ensure clinical validity, the integrated scores were externally validated in an independent cohort of 53,306 genotyped individuals from the Mass General Brigham Biobank (MGBB). Validation was performed using logistic regression models adjusted for age, sex, and population structure—ensuring the test performs reliably across a broad population base.

To deliver these insights, the test leverages the clinical blended genome-exome assay performed at Broad Clinical Labs, enabling high-resolution genetic data capture. The results are then interpreted and translated into patient-facing reports by the expert team at the Mass General Brigham Laboratory for Molecular Medicine, a CLIA-certified laboratory with deep expertise in genomic medicine.

"This test represents a leap forward in how we can proactively address chronic diseases before symptoms occur," said Dr. Pradeep Natarajan MD, MMSc, Director of Preventive Cardiology at Massachusetts General Hospital and associate member at the Broad Institute. "By integrating robust PRS science from over 200,000 individuals nationwide and validating it in our local population, we're providing actionable, individualized risk profiles to patients in everyday care."

The test embodies a convergence of biomedical research and clinical application, drawing on insights from foundational genomics studies to identify genetic signals that contribute to cardiovascular disease across diverse populations.

"We're translating insights from population genomics into real-world clinical tools," said Niall Lennon, PhD, Chair and Chief Scientific Officer at Broad Clinical Labs. "This test demonstrates how combining data at scale with robust modeling and clinical-grade assays can enable earlier and more precise interventions."

The clinical report contextualizes the patient's polygenic risk scores alongside established medical guidelines, providing clinicians and patients with meaningful insights that can support shared decision-making in preventive care.

"The Laboratory for Molecular Medicine is proud to partner in making complex genomic data interpretable and clinically relevant," added Matthew Lebo, PhD, Director of the Laboratory for Molecular Medicine and associate member at the Broad Institute. "This test not only enhances our ability to assess risk but empowers patients and providers with knowledge that can guide earlier and more targeted prevention strategies."

Toward a Preventive Genomics Future

This launch reflects a growing movement toward personalized prevention, where genetic and clinical data are used to anticipate risk and guide tailored interventions before disease onset. As cardiovascular and metabolic diseases remain leading causes of morbidity and mortality worldwide, this test empowers individuals and providers to take informed steps early—shaping the future of preventive care.

Information about ordering the test can be obtained here: Polygenic Risk Test - Cardiovascular

About Mass General Brigham Cardiovascular Disease Prevention Center

The Mass General Brigham Cardiovascular Disease Prevention Center is dedicated to advancing heart health through clinical care, research, and innovation. By translating genomic discoveries into patient care, the Center is leading the future of personalized prevention.

About Broad Clinical Labs

Broad Clinical Laboratories was founded in 2013 as a non-profit subsidiary of the Broad Institute to accelerate the world toward a better understanding, diagnosis, and treatment of disease by pursuing projects, developing products, and driving adoption of cutting edge 'omics technologies and novel molecular assays. www.broadclinicallabs.org

About the Laboratory for Molecular Medicine at MGB

The Laboratory for Molecular Medicine (LMM) is a CLIA-certified diagnostic laboratory within Mass General Brigham Personalized Medicine. Founded in 2001, LMM is a pioneer in the development and implementation of clinical genomic testing. With deep expertise in cardiovascular, hearing loss, and inherited disease genetics, LMM provides high-quality variant interpretation and clinical reporting that support precision diagnosis and patient care. The lab is nationally recognized for its contributions to genomic medicine, data sharing, and the responsible integration of genetics into clinical practice. https://www.massgeneralbrigham.org/en/research-and-innovation/centers-and-programs/personalized-medicine/molecular-medicine

For media inquiries or more information, please contact:

Broad Clinical Labs: Taisha Hendrickson; [email protected]

Mass General Brigham: Brandon Chase; [email protected]

SOURCE Broad Clinical Labs