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

Mass General Brigham Launches Genetic Test to Predict Risk Across Eight Cardiovascular Conditions

Boston, MA – September 3,2025 — 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;  thendric@broadinstitute.org 

Mass General Brigham: Brandon Chase; bchase7@mgb.org 

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Sean Hofherr

Chief of Clinical Strategy and Product Development, Broad Clinical Labs

Sean Hofherr is dual board certified by ABMGG in Clinical Biochemical Genetics and Clinical Molecular Genetics. Sean serves as the Chief of Clinical Strategy and Product Development at Broad Clinical Labs. In this role at BCL, Sean is able to leverage his extensive experience to guide the clinical vision and delivery across the organization. Sean most recently served as the Chief Operating Office at Fabric Genomics, which focuses on the use of AI and Bioinformatics for Clinical Interpretation of whole genome sequencing. Prior to Fabric, Sean was the Chief Scientific Officer and CLIA Director at the commercial reference laboratory, GeneDx.

Sean received his B.S. degree in Microbiology and Cell Sciences from the University of Florida before earning his Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. Sean completed clinical fellowships in Clinical Biochemical Genetics and Clinical Molecular Genetics at the Mayo Clinic.

Danielle Perrin

Chief of Staff, Broad Clinical Labs

As Broad Clinical Labs’ Chief of Staff, Danielle Perrin advises and supports colleagues on the executive leadership team in BCL’s strategic planning and execution. She builds and leads new organizational functions and processes and leads critical projects, as well as driving effective information flow, decision making, and execution throughout the organization. An operations leader with a business, engineering, and biology background and 20+ years of experience in the genomics field, Perrin has a track record of driving operational excellence and building and scaling both physical and business processes. During her career at Broad, which started in 2003 at the tail end of the Human Genome Project, Perrin has led laboratory operations and R&D teams in Broad’s Genomics Platform, as well as fulfilling senior advisory and leadership roles in the Broad Institute’s COO and CFO offices.

Perrin received her B.S. in Biology and M.E. in Biotechnology Engineering from Tufts University and her M.B.A. from the MIT Sloan School of Management.

Tim De Smet

Chief Commercial Officer, Broad Clinical Labs

As Chief Commercial Officer of Broad Clinical Labs, Tim De Smet leads BCL’s business development, alliance management, external project management, and customer support teams. A Broad Institute employee since 2008, De Smet has held leadership roles and managed teams of various sizes in Broad’s Genomics Platform and clinical lab, spanning laboratory operations, finance, and informatics, and has expertise in work design, financial modeling, and high scale laboratory and business operations.

De Smet received his B.S. in Biochemistry and M.B.A. from Northeastern University.

Jim Meldrim

Chief Technology Officer, Broad Clinical Labs

As Chief Technology Officer, Jim Meldrim sets the vision for Broad Clinical Labs’ informatics systems, including the hardware and software used for sample intake and tracking, data production, analysis, and delivery. Having held a variety of laboratory and informatics-focused leadership roles at Broad, spanning R&D and production operations, Meldrim has been a leader and innovator in the generation, management, and analysis of genomic data since 1999, beginning with sequencing data generation for the Human Genome Project.

Meldrim received his B.S. in Biology from Cornell University.

Sheila Dodge

Chief Operating Officer, Broad Clinical Labs

As Chief Operating Officer, Sheila Dodge leads Broad Clinical Labs’ process development and implementation activities, as well as lab operations, financial planning and operations, quality & compliance, and core business processes. A Six Sigma Black Belt with extensive experience in process development and high throughput genomics operations, Dodge is an expert in work design and in collaborating with a range of collaborators, scientists, engineers, and technology partners to rapidly integrate new technologies and operationalize innovations. A member of the Broad Institute since 2001, Dodge is an Institute Scientist and lectures at the MIT Sloan School of Management on operations, dynamic work design, and visual management techniques.

Dodge received her B.A. in biochemistry and molecular biology from Boston University and her master’s degree in biology from Harvard University. She earned her M.B.A. from MIT Sloan School of Management.

Heidi Rehm, Ph.D., FACMG

Chief Medical Officer and Clinical Laboratory Director, Broad Clinical Labs

Heidi Rehm is board-certified by ABMGG in Clinical Molecular Genetics and Genomics and serves as BCL’s Chief Medical Officer and Clinical Laboratory Director. She oversees BCL’s regulatory requirements, leads the clinical team performing genomic interpretation and variant analysis, and guides BCL’s efforts in genomic testing for clinical and research use. She is also an Institute Member of the Broad and co-director of the Medical and Population Genetics Program. Rehm is also the Chief Genomics Officer in the Department of Medicine and Genomic Medicine Unit Director at the Center for Genomic Medicine at Massachusetts General Hospital, working to integrate genomics into medical practice. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. She co-leads both the Broad Center for Mendelian Genomics, focused on discovering novel rare disease genes, and the Matchmaker Exchange, which aids in gene discovery. She is Chair of the Global Alliance for Genomics and Health, a principal investigator of the Broad-LMM-Color All of Us Genome Center, co-leader of the Genome Aggregation Database (gnomAD), and a Board Member and Vice President of Laboratory Genetics for the American College of Medical Genetics and Genomics.

Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.

Niall Lennon, Ph.D.

Chair and Chief Scientific Officer, Broad Clinical Labs

As Chair and Chief Scientific Officer of Broad Clinical Labs, Niall Lennon leads the team and sets the scientific and clinical vision for the organization. Dr. Lennon joined the Broad Institute in 2006 and has since contributed to the development of applications for every major massively parallel sequencing platform across a range of fields. In 2013 Dr. Lennon led the effort to establish a CLIA licensed, CAP-accredited clinical laboratory at the Broad Institute to facilitate return of results to patients and to support clinical trials. More recently, he has led efforts to achieve FDA approval for large-scale genomics projects (NIH’s All of Us Research Program) and for Broad’s own clinical diagnostic for COVID-19 testing operation, which returned 37+ million results to patients. Dr. Lennon is a principal investigator of the eMerge and All of Us projects, an Institute Scientist at Broad, Associate Director of Broad’s Gerstner Center for Cancer Diagnostics, and an adjunct professor of biomedical engineering at Tufts University, where he teaches Molecular Biotechnology.

Dr. Lennon received a Ph.D. in pharmacology from University College Dublin and completed his postdoctoral studies at Harvard Medical School and Massachusetts General Hospital. He holds an executive certificate in management from the MIT Sloan School of Management.