دورية أكاديمية
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
| العنوان: | Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine. |
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| المؤلفون: | Wiley LK; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Shortt JA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Roberts ER; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lowery J; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; University of Colorado Cancer Center, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Community and Behavioral Health, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Kudron E; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lin M; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Mayer D; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Wilson M; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Brunetti TM; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Chavan S; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Phang TL; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Pozdeyev N; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lesny J; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Wicks SJ; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Moore ET; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Morgenstern JL; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Roff AN; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Shalowitz EL; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Stewart A; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Williams C; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Edelmann MN; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Hull M; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Patton JT; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Axell L; CU Cancer Center, Hereditary Cancer Clinic, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Ku L; CU Cancer Center, Hereditary Cancer Clinic, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lee YM; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Clinical Pharmacy, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Jirikowic J; UCHealth, Aurora, CO 80045, USA., Tanaka A; UCHealth, Aurora, CO 80045, USA., Todd E; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; UCHealth, Aurora, CO 80045, USA., White S; UCHealth, Aurora, CO 80045, USA., Peterson B; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Hearst E; UCHealth, Aurora, CO 80045, USA., Zane R; UCHealth, Aurora, CO 80045, USA; University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Greene CS; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Mathias R; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Coors M; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Taylor M; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Division of Cardiology, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Ghosh D; Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, CO 80045, USA., Kahn MG; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Brooks IM; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Aquilante CL; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pharmaceutical Sciences, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Kao D; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Division of Cardiology, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; CARE Innovation Center, UCHealth, Aurora, CO 80045, USA., Rafaels N; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Crooks KR; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pathology, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Hess S; UCHealth, Aurora, CO 80045, USA., Barnes KC; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address: kathleen.barnes@cuanschutz.edu., Gignoux CR; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address: chris.gignoux@cuanschutz.edu. |
| المصدر: | American journal of human genetics [Am J Hum Genet] 2024 Jan 04; Vol. 111 (1), pp. 11-23. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2008- : [Cambridge, MA] : Cell Press Original Publication: Baltimore, American Society of Human Genetics. |
| مواضيع طبية MeSH: | Precision Medicine* , Learning Health System*, Humans ; Biological Specimen Banks ; Colorado ; Genomics |
| مستخلص: | 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.) |
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| معلومات مُعتمدة: | UM1 AI109565 United States AI NIAID NIH HHS; R25 HL146166 United States HL NHLBI NIH HHS; UL1 TR002535 United States TR NCATS NIH HHS; R01 HG011345 United States HG NHGRI NIH HHS; R01 HL151152 United States HL NHLBI NIH HHS; K01 LM013088 United States LM NLM NIH HHS; U19 AI117673 United States AI NIAID NIH HHS; U01 HG011715 United States HG NHGRI NIH HHS; R01 HL104608 United States HL NHLBI NIH HHS; R01 AI132476 United States AI NIAID NIH HHS; UM1 TR004399 United States TR NCATS NIH HHS; R01 HG010067 United States HG NHGRI NIH HHS |
| فهرسة مساهمة: | Keywords: biobanking; electronic health records; learning health system; pharmacogenomics; precision medicine |
| تواريخ الأحداث: | Date Created: 20240105 Date Completed: 20240108 Latest Revision: 20240201 |
| رمز التحديث: | 20240201 |
| مُعرف محوري في PubMed: | PMC10806731 |
| DOI: | 10.1016/j.ajhg.2023.12.001 |
| PMID: | 38181729 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1537-6605 |
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| DOI: | 10.1016/j.ajhg.2023.12.001 |