Building a Vertically-Integrated Genomic Learning Health System: The Colorado Center for Personalized Medicine Biobank
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Le résumé fourni par la source
ABSTRACT 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 over 200,000 patients 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 patients across multiple disease domains. Finally, we describe our current efforts towards 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.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Building a Vertically-Integrated Genomic Learning Health System: The Colorado Center for Personalized Medicine Biobank
- Date Crossref
- 14/06/2022
- Éditeur
- openRxiv
- Type
- posted-content
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of Colorado Anschutz Colorado Center for Personalized Medicine pays non établi dans la noticeUniversité ou école supérieure
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Cancer Clinic pays non établi dans la noticeÉtablissement de santé
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University of Colorado Cancer Center Hereditary Cancer Clinic pays non établi dans la noticeÉtablissement de santé
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University of Colorado Denver pays non établi dans la noticeUniversité ou école supérieure
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University of Colorado Health pays non établi dans la noticeÉtablissement de santé
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Tempus Labs (United States) pays non établi dans la noticeEntreprise
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UCHealth pays non établi dans la noticeInstitution
Colorado Center for Personalized Medicine — University of Colorado Anschutz, Cancer Clinic et Hereditary Cancer Clinic — University of Colorado Cancer Center, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.