NIH Launches Population Genomic Screening Network to Bring Preventative Genomics into Primary Care
核心洞察
The NIH-funded Population Genomic Screening Network will pilot genomic screening for actionable genetic conditions in primary care settings across six U.S. clinical sites.
Baylor College of Medicine will serve as the sequencing center with $9.9 million over five years, while UAB receives $4.9 million to enroll approximately 5,000 participants.
Screening will target CDC Tier 1 conditions including hereditary breast and ovarian cancer, Lynch syndrome (搜索), and familial hypercholesterolemia (搜索), plus additional conditions like transthyretin amyloidosis (搜索) and hypertrophic cardiomyopathy (搜索).
The National Institutes of Health has launched the Population Genomic Screening Network (PGSN), a nationwide initiative designed to integrate genomic screening into routine primary care and identify individuals at risk for serious but preventable genetic conditions. Baylor College of Medicine's Human Genome Sequencing Center will serve as the sequencing center for the network, with an expected $9.9 million over five years from the National Human Genome Research Institute. The University of Alabama at Birmingham has been awarded $4.9 million to support its participation, with funding extending through 2031.
"We have witnessed the benefits of genetic screening, particularly in rare diseases and cancer genomics. But the wide potential for applying genomic tools for preventative care has yet to be tapped," said Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor and principal investigator. "This program will build on work already happening at Baylor and elsewhere, using genomics to help stratify disease risk and make recommendations about preventative care to help people before they get sick."
A National Collaborative Effort
The network brings together six clinical sites: Wake Forest University, the University of Alabama at Birmingham, Brigham and Women's Hospital, Yale University, the University of Illinois Chicago, and the University of Pennsylvania. The University of Washington School of Public Health will serve as the coordinating center, overseeing comprehensive administration of logistics, communication, and governance. Baylor College of Medicine will sequence samples from all participating sites and generate clinical reports for clinicians to distribute to patients.
The program aims to enroll approximately 20,000 to 30,000 adult participants nationally, with UAB alone targeting 5,000 participants. Each clinical group is partnering with multiple primary care providers to pilot genomic screening across a wide variety of clinical and geographical settings, including community clinics, private practice, university health systems, Veterans Affairs clinics, and Federally Qualified Health Clinics.
Targeting Actionable Genetic Conditions
The screening initiative focuses on identifying individuals at risk for several high-impact, actionable genetic conditions. These include the Centers for Disease Control and Prevention's Tier 1 genomic applications: hereditary breast and ovarian cancer syndrome (搜索), Lynch syndrome (搜索), and familial hypercholesterolemia (搜索). UAB's program will also screen for additional conditions relevant to its patient populations, including transthyretin amyloidosis (搜索), hypertrophic cardiomyopathy (搜索), and APOL1-associated hypertensive kidney disease (搜索).
"Genomic medicine has tremendous potential to transform how we prevent chronic diseases, but too many people who carry actionable genetic risks remain unaware," said Dr. Nita Limdi, Pharm.D., Ph.D., professor and associate dean for genomic medicine at the UAB Marnix E. Heersink School of Medicine, who serves as UAB's contact principal investigator. "By integrating genomic screening into primary care, we can identify risk earlier, empower patients with important health information and help providers intervene before serious disease develops."
From Reactive to Proactive Care
A central goal of the PGSN is to shift the paradigm from reactive treatment to proactive prevention. Genomic screening results will be returned both to participants and to their primary care providers, along with evidence-based recommendations for follow-up care. Researchers will then evaluate how genomic information influences preventive care, referrals, health behaviors, and patient outcomes over a 24-month period.
"For too long, many people with actionable genetic risks have remained unidentified until they develop serious disease," Limdi said. "This initiative gives us an opportunity to shift from reactive care to proactive prevention by bringing genomic screening into primary care. By working closely with patients, providers and communities, we hope to develop an evidence-based model that empowers individuals with genetic health information earlier and helps healthcare systems integrate genomic medicine in ways that are sustainable, equitable and impactful."
The network will recruit participants in its second year, with the first year devoted to planning and securing regulatory approvals needed to implement a screening protocol across all sites. Data generated through the program will also be used for basic genetic discovery and outcomes-based research to understand the impact of interventions on downstream care.
Building on Established Expertise
The project builds on UAB's longstanding leadership in genomics research and implementation, including contributions to the Alabama Genomic Health Initiative, eMERGE, IGNITE, and the All of Us Research program. At Baylor, Dr. Eric Venner and Donna Muzny, both associate professors in the Human Genome Sequencing Center, will serve as co-principal investigators alongside Dr. Gibbs.
UAB's multidisciplinary team includes co-principal investigators Dr. Pankaj Arora, professor in the Division of Cardiovascular Disease, and Dr. Larry Hearld, professor in the Department of Health Services Administration, along with co-investigators from genetics, emergency medicine, general internal medicine and population science, and family and community medicine. A key component of the initiative is its emphasis on stakeholder engagement, with UAB investigators working closely with primary care physicians, clinic staff, patients, and community members to develop culturally relevant educational resources and implementation strategies that support adoption of genomic screening across diverse populations.