Population Genomic Screening in Primary Care Sequencing Center (U01 - Clinical Trial Optional)

The funding opportunity titled "Population Genomic Screening in Primary Care Sequencing Center" (RFA-HG-24-023) by the National Human Genome Research Institute (NHGRI) is part of a pilot program aimed at implementing genomic screening in a primary care setting. This initiative focuses on sequencing common, actionable genomic conditions to prevent disease or reduce its severity. The program will evaluate screening for approximately 4-7 genomic conditions, starting with conditions like hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH), which have strong evidence for the effectiveness of screening. Other conditions with emerging but not yet conclusive evidence may also be included. The primary goals of this project are to offer primary care-based genomic screening, engage the community in research, and ensure that patients found to have genomic risk variants receive appropriate follow-up care. This is particularly aimed at underrepresented populations and healthcare settings. The Sequencing Center (SeqC), for which this opportunity applies, will be responsible for conducting genomic testing and working closely with Clinical Groups (CGs) and a Coordinating Center (CC) to ensure uniform protocols, data sharing, and analysis across the network. The SeqC will perform whole exome sequencing on up to 20,000 samples and provide the results in a Clinical Laboratory Improvement Amendments (CLIA)-compliant manner. The NIH expects to award one cooperative agreement, with a total budget commitment of $600,000 for year 1 (FY25), $5.85 million for year 2 (FY26), $2.35 million for year 3 (FY27), and additional funding for years 4 and 5. The SeqC will need to cover costs related to DNA extraction, sequencing, data interpretation, and reporting for the genomic conditions identified in the network-wide protocol. Successful applicants will work closely with the network to address key research objectives such as assessing the feasibility, acceptability, and sustainability of genomic screening in diverse clinical settings. Eligible applicants include higher education institutions, non-profit organizations, state governments, and other entities. Applications are due by December 2, 2024, and the project is expected to begin in July 2025. Interested parties should submit a letter of intent by November 1, 2024, and comply with all submission guidelines as detailed in the NIH’s "How to Apply" instructions.