Genetic screening for common hereditary conditions may be coming to a primary care facility near you.
University of Washington School of Public Health researchers are part of the new Population Genomic Screening Network (PGSN), an NIH-funded program piloting community-level testing for well-understood genetic conditions.
“What’s exciting about this network is it’s working to scale up genomic screening in primary care settings, for common, actionable conditions like hereditary breast and ovarian cancer where early detection can really help improve health outcomes,” said Sarah Nelson, a research scientist at the UW Genetic Analysis Center (GAC), which will serve as the coordinating center for PGSN and is slated to receive more than $2.1 million in funding for the first two years of the five-year project.
PGSN will also screen for Lynch syndrome (a genetic condition that makes some people more likely to develop certain cancers), inherited high cholesterol levels and other conditions where early detection, intervention, and proven treatments can improve patient outcomes.
“Generally, people are offered genetic testing based on a family history, but it has been shown that a large proportion of individuals who carried these genetic changes that predispose them to disease do not have a family history that would indicate the need for testing. Also many providers may not be carefully looking at the family history of disease. Population screening offers access to these important tests for all persons at risk,” said Dr. Gail Jarvik, a clinical medical geneticist and genetics researcher with the UW Division of Medical Genetics who advises the coordinating center on medical and regulatory issues.
While not directly involved with PGSN, Alison Fohner, director of UW’s Institute of Public Health Genetics (IPHG) and an associate professor of epidemiology, said that PGSN will be testing approaches to deliver the benefits of genomics to more people and that questions around how to do that well are the same IPHG has been trying to answer since its inception.
“What excites me most is the shift from reactive to proactive and the democratization of genomics. This is one of the first tests of using genomics for population-level screening. Genomic screening at the population level has been shown to reduce disparities in health outcomes and our ability to implement screening ethically and equitably is an important opportunity for elevating population health, not just for those who have historically had the best healthcare, but for everyone,” said Fohner.
The GAC is part of the UW Department of Biostatics and its responsibilities as the PGSN coordinating center include collaborating with colleagues in the UW School of Medicine in coordinating and monitoring the design and implementation of the PGSN screening program, supporting its community engagement plan, managing and releasing PGSN data to the scientific community, as well as providing comprehensive administration of PGSN’s logistics, communication, and governance.
The project will recruit around 30,000 adult participants through six clinical groups at 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. Baylor College of Medicine will serve the PGSN sequencing center. Each clinical group is partnering with multiple primary care providers to pilot genomic screening across diverse clinical and geographical settings including community clinics, private practice, university health systems, Veterans Affairs (VA) clinics, and Federally Qualified Health Clinics (FQHCs).
The network will recruit participants in its second year, with the first year devoted to planning and securing regulatory approvals needed to implement a harmonized screening protocol across all sites.
“An initial challenge of the coordinating center is to ensure the network can ‘hit the ground running’ to meet these ambitious goals. It involves a lot of logistics, including rapidly standing up initial working groups, policies, and decision-making. Our goal is for the network to operate efficiently, transparently, and be able to leverage the substantial expertise and experience of all the network members,” said Nelson.
Community engagement is a core priority of the network. Input from patients, families, providers, and payers will ensure community perspectives are incorporated into the design and implementation of pilot screening programs. This collaborative approach helps ensure that screening programs are equitable, trustworthy, and aligned with community health needs and priorities.
“I am excited about the opportunity to see if population genomic screening—which offers screening to broader and easier to define population—can help us increase access to preemptive genetic testing for everyone who may benefit from it, not just informed people who know enough to ask for it,” said Sarah Knerr, an associate professor in the Department of Health Systems and Population Health, who is helping the coordinating center implement and evaluate the screening program.
“Down the line, what we learn from the project will help us to structure programs in Washington and beyond that increase access to genetic testing in ways that maximize benefits and minimize harms,” said Knerr.
“The PGSN can help translate genomic discoveries into clinical and public health practice at UW in ways that benefit patients across the Pacific Northwest, including populations that have historically been underrepresented in genomic research. For UW specifically, participation strengthens our role as a national leader in population health genomics and creates opportunities for interdisciplinary collaboration across the UW and Seattle. Over time, the infrastructure and evidence generated by the PGSN could inform how Washington state health systems implement genomic screening at scale,” said Fohner.
