Thursday, November 21, 2024
11/21/2024
A. Abstract The goals of the Northwest Genomics Center (NWGC) for All of Us (AoU) are to provide high- quality, cost-effective genotyping and whole genome sequence (WGS) data; to return genomic results for medically actionable and pharmacogenomic genetic variants; to enhance the scientific value of AoU by adding innovative -omic technologies; and to expand the value returned to AoU participants by leveraging long-read sequence data. The NWGC brings together three internationally recognized Principal Investigators–Gail Jarvik, Chia-Lin Wei, and Evan Eichler– with decades of expertise in high-throughput clinical genomics. Together with their Co- Investigators—Christina Lockwood, Brian Shirts, Colin Pritchard, Phil Empey—they have returned tens of thousands of variant interpretations to patients including AoU participants. Since August 2020, the NWGC has delivered genotype array data for 169,414 samples and genome data for 61,606 samples to the AoU Data Research Center (DRC). We have completed variant review and classification resulting in genomic return of results reports for more than 15,000 AoU participants including 411 medically actionable reports (i.e., American College of Medical Genetics pathogenic or likely pathogenic classifications). As we have done since November 2018, we will continue to coordinate our efforts with All of Us partners including the DRC, the Mayo Clinic Biobank, and the other Genome Centers. To advance the core business goals and objectives of AoU, the NWGC will generate high-quality genotyping array and whole genome sequence data for up to 50,000 AoU participants per year. In addition, we will interpret and classify variants for individuals who request genomic return of results (gRoR). We will continue to lead and support expanding gRoR content to participants (i.e., additional genes and medications) and leverage long-read -omics projects for investigators in the Researcher Work Bench (RWB). We will contribute our in-depth experience in sequencing technologies to support the FDA IDE supplemental validation plans for the NovaSeq X Plus platform and construct long-read resources in the discovery of pathogenic variants in medically- relevant genes and PGx targets. We will participate in analysis working groups and work with the DRC to improve genotype imputation and phasing tools, when funding is available, we will deploy innovative multiomics technologies to expand variant interpretation and functional annotation. As we have demonstrated in the past six years, the NWGC is ideally positioned to support and maximize the potential of AoU and its central mission to understand human genetic variation that impacts disease prevalence among the diverse United States population.
HHS’ Tracking Accountability in Government Grants System (TAGGS) website provides access to detailed descriptions of grants, loans, aggregated direct payments and other types of financial assistance awarded by the HHS Operating Divisions (OPDIVs) and the Office of the Secretary Staff Divisions (STAFFDIVs).
