#USA #Boston #Cardiovascular Risk #Mass General #Genetic Test

Mass General Brigham Launches Groundbreaking Genetic Test

In a remarkable advancement in preventive medicine, Mass General Brigham has unveiled a cutting-edge genetic test aimed at estimating the inherited risk of eight common chronic cardiovascular conditions. This test, developed in partnership with Broad Clinical Labs and the Massachusetts General Hospital's Cardiovascular Disease Prevention Center, marks a significant leap toward genomic-driven healthcare, providing patients with a proactive tool to assess their health risks.

The Innovative Test

Now available for patients on a self-pay basis, this clinician-ordered test integrates state-of-the-art genomic insights with reliable clinical-grade reporting. By evaluating genetic predispositions to various health issues—including atrial fibrillation, coronary artery disease, type 2 diabetes mellitus, elevated lipoprotein(a), hypercholesterolemia, hypertension, thoracic aortic aneurysm, and venous thromboembolism—it allows for earlier intervention and tailored prevention strategies.

Advanced Science at Work

The genesis of this test stems from an extensive analysis of genotype and clinical data from 236,393 participants in the NIH’s All of Us Research Program. Researchers combined publicly available polygenic risk scores (PRS) and employed a sophisticated statistical technique, PRSmix, to consolidate scores into a single, comprehensive risk assessment for each condition. This approach significantly enhances predictive accuracy compared to individual PRS models.

The reliability of these integrated scores was rigorously validated through an independent cohort comprising 53,306 genotyped individuals from the Mass General Brigham Biobank. This validation utilized logistic regression models to ensure that the testing process met clinical standards across diverse populations.

High-Resolution Genetic Data

To deliver these insights, the test employs a blended genome-exome assay performed at Broad Clinical Labs, ensuring high-resolution data capture. The expert team at the Mass General Brigham Laboratory for Molecular Medicine, a CLIA-certified facility, then interprets the data, creating patient-facing reports that are both informative and accessible.

Dr. Pradeep Natarajan, Director of Preventive Cardiology at Massachusetts General Hospital, emphasized the importance of this test: “This tool allows us to tackle chronic diseases preemptively, focusing on risk factors that might otherwise go unnoticed until symptoms arise.” By integrating robust genetic science and validating it against a large dataset, this innovation aims to offer actionable, individualized risk profiles that healthcare providers can use in everyday scenarios.

A Collaborative Effort

Incorporated into the test's design are foundational genomics studies that illuminate genetic signals contributing to cardiovascular diseases across various demographics. As Dr. Niall Lennon, Chair and Chief Scientific Officer at Broad Clinical Labs, noted, “This test exemplifies our vision of turning large-scale genomic data into practical clinical applications, paving the way for earlier and more precise interventions.”

Contextualizing Genetic Risks

The clinical report accompanying the test's results presents patients' polygenic risk scores alongside established medical guidelines, fostering informed shared decision-making. Matthew Lebo, Director of the Laboratory for Molecular Medicine, remarked, “By transforming complex genomic data into meaningful insights, we empower patients and healthcare providers to initiate targeted prevention strategies early.”

Looking to the Future

This launch symbolizes a vital shift towards personalized healthcare, integrating genetic and clinical information to guide patients and providers in making informed decisions. As cardiovascular diseases continue to significantly impact global health, this test equips individuals to take proactive steps in managing their health risks. For more details on how to order the test, visit the Polygenic Risk Test - Cardiovascular site.

About the Organizations

The Mass General Brigham Cardiovascular Disease Prevention Center is at the forefront of advancing heart health with a focus on clinical care and innovation. Broad Clinical Laboratories, established in 2013, aims to enhance disease understanding and treatment through cutting-edge technologies and molecular assays. The Laboratory for Molecular Medicine has been a pioneer in clinical genomic solutions since 2001, recognized nationally for its contributions to genomic medicine and patient care.

These efforts not only shape the landscape of preventive healthcare but also underline the importance of personalized medicine in combating chronic diseases effectively.