Network Overview

The Population Genomic Screening Network is an NIH-funded program focused on integrating population-based genomic screening into primary care. It aims to broaden access to and the use of genomic medicine and support earlier detection of common, actionable conditions. The Network has the following main goals:

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Evaluate primary care-based screening for select genomic conditions with the strongest evidence for screening to prevent disease or reduce its severity

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Use established strategies for meaningful community engagement in all phases of design, conduct, and evaluation
 

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Develop effective strategies for connecting patients found to have genomic risk variants to follow-up care

Population Genomic Screening

Population-based genomic screening is the practice of offering genetic testing for selected inherited conditions to a defined population. Historically, genomic screening has been targeted to those with a known family history of the given condition. In contrast, this Network is piloting offering screening population-wide to assess if it helps identify individuals who would otherwise remain undetected and allow them to benefit from earlier detection, prevention, or treatment.

Participating Centers

The PGS Network is made up of six Clinical Groups, a Sequencing Center, and a Coordinating Center, and NIH program staff.

Map of the United States highlighting the states that contain PGSN Clinical Groups or Centers

Credit: Devon Truax, NHGRI

Clinical Groups

The Clinical Groups span the United States and collaborate with multiple individual primary care sites. The diversity of Clinical Groups and primary care partners allows implementation and evaluation of the Network-wide screening protocol across different community settings and adapted to different community needs. 

Learn more about the six Clinical Groups.

Sequencing Center

All genome sequencing and genetic analysis is performed at the Human Genome Sequencing Center at Baylor College of Medicine. The screening panel and process is developed with collaboration across the Network. 

Learn more about the Sequencing Center.

Coordinating Center

The Genetic Analysis Center at the University of Washington serves as the Network Coordinating Center. They oversee aspects of the network's activities, such as management of program outreach, management of data release, and coordinating logistics for the network. 

Learn more about the Coordinating Center.

Network Timeline

The Network launched in summer of 2026 and has a five year timeline to complete development, implementation, and evaluation of a population genomic screening protocol. Participant recruitment is expected to launch at the beginning of year two, in summer 2027. 

Year 1 - Develop Network ProtocolYear 2 - Recruit and screen participantsYear 3 - Outcomes and follow-upYear 4 - Outcomes and follow-upYear 5 - Final Analysis and Dissemination
  • Establish Network 
    governance and structure
  • Select genes and 
    conditions
  • Establish Network 
    screening protocol
  • Obtain sIRB approval
    Define data standards 
    and workflows
  • Recruit 5K participants 
    per CG
  • Collect baseline data
  • Sequencing and RoR
    Initial Network dataset
  • Collect participant 
    outcomes (min 24 mos 
    follow-up)
  • Network-wide data 
    monitoring and analysis
  • Versioned release of 
    Network data
  • Collect participant 
    outcomes (min 24 mos 
    follow-up)
  • Network-wide data 
    monitoring and analysis
  • Versioned release of 
    Network data
  • Final Network analyses
  • Final public data release
  • Publish best practices and 
    lessons learned

Informed by Communities

The importance of community involvement to the success of health programs is well documented. In line with this evidence, the Population Genomic Screening Network will utilize both local and centralized community-engagement structures to engage communities throughout the design and implementation of the pilot screening program. Engagement will guide the Network's efforts to reflect communities’ needs and priorities, address barriers to genetic screening, and support feasible, equitable, evidence-based care.