TESTMIGENES2: population genomic screening in diverse primary care settings - nearly 2 million people in the united states are at increased risk for serious health outcomes due to hereditary…

The National Human Genome Research Institute awarded the University of Illinois a cooperative agreement worth $1,829,758 on April 21, 2026, under the Human Genome Research program (CFDA 93.172) to develop and implement population genomic screening for CDC Tier 1 hereditary conditions in primary care settings.

The recipient will develop a scalable population genomic screening (PGS) model by expanding the TESTMIGENES care delivery model, integrating community engagement, culturally appropriate patient education, provider training, and optimized clinical workflows to support sustainable implementation. The University of Illinois will implement PGS across six primary care sites—three within an academic medical center and three within a federally qualified health center network—enrolling 5,000 patients and providing follow-up care for those with actionable findings. The project will also evaluate implementation strategies promoting adoption of PGS at the patient, provider, and system levels using a hybrid effectiveness-implementation research design.

Work is performed in Chicago, Illinois. The period of performance runs through January 31, 2031.

TESTMIGENES2: population genomic screening in diverse primary care settings - nearly 2 million people in the united states are at increased risk for serious health outcomes due to hereditary conditions such as hereditary breast and ovarian cancer (HBOC) syndrome, lynch syndrome, and familial hypercholesterolemia (FH), identified as CDC tier 1 genomic conditions. Advances in genomic technologies offer significant potential for disease prevention and early detection. However, current healthcare delivery models often fail to identify individuals with these conditions during the presymptomatic phase due to complex testing criteria and limited access to specialized genomic care. These gaps contribute to under-ascertainment and exacerbate imbalances in adverse health outcomes. This project aims to advance genomically informed care by implementing population genomic screening (PGS) in primary care settings, with a focus on CDC tier 1 conditions. To achieve this, we will leverage and expand upon a successful care delivery model (TESTMIGENES) developed in federally qualified health centers (FQHCS), which has increased access to cancer genetic services. We will develop an innovative and scalable PGS model that integrates seamlessly into primary care workflows, in an environment serving a broad patient population. Three specific aims underlie our approach: 1. Develop a PGS program by expanding upon the TESTMIGENES model and integrating community engagement, culturally appropriate patient education, provider training, and optimized clinical workflows to support sustainable PGS implementation; 2. Implement PGS in primary care settings: including six primary care sites (three in an academic medical center [AMC] and three in an fqhc network), enroll 5,000 patients, and provide follow-up care for patients with actionable findings; and 3. Evaluate implementation strategies that promote adoption of PGS at the patient, provider, and system levels using a hybrid effectiveness-implementation design, guided by the RE-aim framework to assess the impact of PGS at the patient, provider, and system levels. Outcomes will include patient engagement, provider adoption, and feasibility of scaling PGS. In summary, this project seeks to improve health outcomes by developing and implementing a population genomic screening (PGS) program designed for primary care settings, including federally qualified health centers (FQHCS) that serve patients with elevated genetic or clinical risk profiles. Through community engagement, provider training, and integration of digital tools into clinical workflows, this project aims to expand access to genomic services. Study findings will establish a scalable and sustainable framework for incorporating PGS into multiple healthcare systems, addressing access to genomic healthcare and improving public health outcomes.