NEW YORK – The National Human Genome Research Institute intends to fund a new research network focusing on population genomic screening in primary care with a total of $38.1 million over five years.
According to recent funding opportunity notices, the multisite network will be tasked with implementing a population genomic screening pilot program for common, actionable genomic conditions in a primary care setting.
The aim is to start with four to seven genomic conditions where evidence is strong that screening is effective to prevent the disease or reduce its severity. These should include the Centers for Disease Control and Prevention (CDC) Tier 1 conditions, namely hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and familial hypercholesterolemia, as well as other conditions with strong evidence, such as HFE hemochromatosis, ATTR cardiomyopathy, or APOL1 hypertensive renal disease.
As part of a clinical trial, participants will receive genomic testing for these conditions and have their results returned to them. There is no plan for the network to conduct a large-scale randomized controlled trial, however.
"The ultimate goal of this initiative is to understand the factors shaping the adoption of population genomic screening in primary care in individuals unselected for any disease, not necessarily in any of the high-risk categories for the diseases in the Tier 1 group, and to identify tools and other resources that facilitate, when appropriate, implementation of genomic screening into primary care," according to NHGRI’s notice. "The network is intended to identify and collect outcomes data to better understand the optimal approach to implementation of population genomics screening based on the contextual setting and on what is important to patients, [primary care providers], and other stakeholders."
The pilot study will create the foundation for screening for additional conditions in the future, such as those covered by the American College of Medical Genetics and Genomics' secondary findings gene list.
Each clinical group is expected to enroll 5,000 patients within 12 months, with at least 55 percent coming from populations with health disparities. The sequencing center will perform exome sequencing as well as variant calling and interpretation in a CLIA laboratory and submit the data to the coordinating center. Primary care providers and patients will receive the testing results together with guideline-based risk management information. Starting with the return of results, patients will be followed up for a minimum of 24 months.
Applications for the network are due Dec. 2. The awards will start in July 2025 at the earliest and run for five years. More information is available here, here, and here.