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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., Competing Interests: Declaration of interests K.C.B. owns stock in Tempus and Galatea Bio and is an employee of Oxford Nanopore Technologies. C.R.G. owns stock in 23andMe, Inc., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Characterizing the experience and impact of the COVID-19 pandemic among various populations remains challenging due to the limitations inherent in common data sources, such as electronic health records (EHRs) or cross-sectional surveys., Objective: This study aims to describe testing behaviors, symptoms, impact, vaccination status, and case ascertainment during the COVID-19 pandemic using integrated data sources., Methods: In summer 2020 and 2021, we surveyed participants enrolled in the Biobank at the Colorado Center for Personalized Medicine (CCPM; N=180,599) about their experience with COVID-19. The prevalence of testing, symptoms, and impacts of COVID-19 on employment, family life, and physical and mental health were calculated overall and by demographic categories. Survey respondents who reported receiving a positive COVID-19 test result were considered a "confirmed case" of COVID-19. Using EHRs, we compared COVID-19 case ascertainment and characteristics in EHRs versus the survey. Positive cases were identified in EHRs using the International Statistical Classification of Diseases, 10th revision (ICD-10) diagnosis codes, health care encounter types, and encounter primary diagnoses., Results: Of the 25,063 (13.9%) survey respondents, 10,661 (42.5%) had been tested for COVID-19, and of those, 1366 (12.8%) tested positive. Nearly half of those tested had symptoms or had been exposed to someone who was infected. Young adults (18-29 years) and Hispanics were more likely to have positive tests compared to older adults and persons of other racial/ethnic groups. Mental health (n=13,688, 54.6%) and family life (n=12,233, 48.8%) were most negatively affected by the pandemic and more so among younger groups and women; negative impacts on employment were more commonly reported among Black respondents. Of the 10,249 individuals who responded to vaccination questions from version 2 of the survey (summer 2021), 9770 (95.3%) had received the vaccine. After integration with EHR data up to the time of the survey completion, 1006 (4%) of the survey respondents had a discordant COVID-19 case status between EHRs and the survey. Using all longitudinal EHR and survey data, we identified 11,472 (6.4%) COVID-19-positive cases among Biobank participants. In comparison to COVID-19 cases identified through the survey, EHR-identified cases were younger and more likely to be Hispanic., Conclusions: We found that the COVID-19 pandemic has had far-reaching and varying effects among our Biobank participants. Integrated data assets, such as the Biobank at the CCPM, are key resources for population health monitoring in response to public health emergencies, such as the COVID-19 pandemic., (©Randi K Johnson, Katie M Marker, David Mayer, Jonathan Shortt, David Kao, Kathleen C Barnes, Jan T Lowery, Christopher R Gignoux. Originally published in JMIR Public Health and Surveillance (https://publichealth.jmir.org), 13.06.2022.)