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Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine

2024; Elsevier BV; Volume: 111; Issue: 1 Linguagem: Inglês

10.1016/j.ajhg.2023.12.001

1537-6605

Laura K. Wiley, Jonathan Shortt, Emily R. Roberts, Jan T. Lowery, Elizabeth Kudron, Meng Lin, David Mayer, Melissa P. Wilson, Tonya M. Brunetti, Sameer Chavan, Tzu Phang, Nikita Pozdeyev, Joseph Lesny, Stephen J. Wicks, Ethan Moore, Joshua L. Morgenstern, Alanna Roff, Elise L. Shalowitz, Adrian Stewart, Cole Williams, Michelle N. Edelmann, Madelyne Hull, J. Tacker Patton, Lisen Axell, Lisa Ku, Yee Ming Lee, Jean Jirikowic, Anna Tanaka, Emily Todd, Sarah B. White, Brett Peterson, Emily C Hearst, Richard D. Zane, Casey S. Greene, Rasika A. Mathias, Marilyn E. Coors, Matthew R.G. Taylor, Debashis Ghosh, Michael G. Kahn, Ian Brooks, Christina L. Aquilante, David Kao, Nicholas Rafaels, Kristy Crooks, Steve Hess, Kathleen C. Barnes, Christopher R. Gignoux,

Cancer Genomics and Diagnostics

Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of these initiatives focus solely on research insights, leading to limited direct benefit to patients. We describe the biobank at the Colorado Center for Personalized Medicine (CCPM Biobank) that was jointly developed by the University of Colorado Anschutz Medical Campus and UCHealth to serve as a unique, dual-purpose research and clinical resource accelerating personalized medicine. This living resource currently has more than 200,000 participants with ongoing recruitment. We highlight the clinical, laboratory, regulatory, and HIPAA-compliant informatics infrastructure along with our stakeholder engagement, consent, recontact, and participant engagement strategies. We characterize aspects of genetic and geographic diversity unique to the Rocky Mountain region, the primary catchment area for CCPM Biobank participants. We leverage linked health and demographic information of the CCPM Biobank participant population to demonstrate the utility of the CCPM Biobank to replicate complex trait associations in the first 33,674 genotyped individuals across multiple disease domains. Finally, we describe our current efforts toward return of clinical genetic test results, including high-impact pathogenic variants and pharmacogenetic information, and our broader goals as the CCPM Biobank continues to grow. Bringing clinical and research interests together fosters unique clinical and translational questions that can be addressed from the large EHR-linked CCPM Biobank resource within a HIPAA- and CLIA-certified environment.