The NIH-funded network will implement and scale population-based genomic screening for common, actionable conditions in 25,000 adults in primary care settings across the U.S.
Researchers at Ariadne Labs, a joint center for health systems innovation at Brigham and Women’s Hospital and the Harvard T.H. Chan School of Public Health, and partner institutions have received a new award from the National Institutes of Health (NIH) to launch a multi-site study designed to bring genomic screening into routine primary care and improve early detection of serious, preventable diseases. Ariadne Labs is joined by collaborators at Mass General Brigham, the Boston VA Research Institute, Corewell Health, Harvard Pilgrim Healthcare, and Oakland University.
The PopScreen Study—short for Population Genomic Screening in Primary Care—will develop and evaluate scalable approaches to offering genetic testing to broad adult populations, rather than limiting testing to patients with known risk factors or family history. The goal is to identify individuals at risk for conditions where early intervention can significantly improve outcomes. Unlike traditional genetic testing approaches, population genomic screening aims to reach patients before symptoms appear, reduce missed opportunities for prevention, and deliver access to genomic services at scale.
PopScreen will focus on conditions with strong evidence that early detection can save lives, including hereditary cancer syndromes and familial hypercholesterolemia. These genetic causes of conditions like early-onset breast or colorectal cancer or early myocardial infarction, often go under the radar in the busy practice of primary care. Much of the work of PopScreen will be to make population genomic screening easier for primary care practitioners to order, understand, and manage.
“This award represents a critical step toward integrating genomic medicine into everyday healthcare,” said Jason Vassy, MD, MPH, MS, lead investigator of the project, director of the Ariadne Labs Precision Population Health program and primary care clinician-investigator at Mass General Brigham. “Primary care clinicians know that the demands on their time often cause them to miss red flags in their patients’ family health histories. The goal of PopScreen is to develop the workflows to make population genomic screening routine and scalable.”
PopScreen is part of a collaborative Population Genomic Screening Network that will be recruiting at sites across the U.S., including a coordinating center at the University of Washington, a sequencing center at Baylor College of Medicine, and clinical sites at Wake Forest University, University of Alabama at Birmingham, Yale University, University of Illinois Chicago, the University of Pennsylvania, and select primary care practices at Mass General Brigham, Corewell Health, and the Veteran’s Affairs. Specific locations will be determined in the coming months. The network plans to enroll 30,000 adult patients across multiple clinical sites and evaluate how genomic screening can be effectively integrated into routine care workflows.
Challenges the network will tackle early on include how to design and implement genomic screening programs in primary care, test different implementation strategies to increase uptake and follow‑up care, and evaluate clinical, operational, and economic outcomes. “The collaboration across institutions is essential to ensuring that we develop solutions that are scalable and applicable across diverse healthcare systems,” said Robert Green, MD, MPH, co-lead of the study and a geneticist at Ariadne Labs and Mass General Brigham.
“This project will help define how genomic screening can be delivered at scale,” said Dr. Vassy. “Our goal is to create a model that improves health outcomes for patients everywhere.”
About PopScreen
PopScreen is funded by NIH award U01HG014621 (PI Vassy). More information about the Population Genomic Screening Network can be found on the consortium’s website: https://popgenscreening.org/.