Draft:Penn Medicine BioBank
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The Penn Medicine BioBank
[edit]About:
[edit]The Penn Medicine BioBank (PMBB) is a medical academic biobank[1] located in Philadelphia, Pennsylvania, United States at the University of Pennsylvania (Penn Medicine), founded in 2008.[2] The Penn Medicine BioBank integrates health-related data—including diagnosis codes, lab measurements, imaging data, and lifestyle factors—with genomic and biomarker information to facilitate research and translational science.[3][4] The PMBB has contributed to several studies on disease prevention, treatment efficacy, and public health research, and provides researchers with comprehensive health data and biospecimens.[5][6][7][8][9]
It has enrolled over 260,000 participants, with about 30% identifying as non-European ancestry.[10][11][12] Participants contribute an average of seven years of electronic health record data and consent to recontact for further studies.[13][14][15]
- ^ Park, Joseph; Packard, Elizabeth A.; Levin, Michael G.; Judy, Renae L.; Regeneron Genetics Center; Damrauer, Scott M.; Day, Sharlene M.; Ritchie, Marylyn D.; Rader, Daniel J. (2022-03-03). "A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank". Human Molecular Genetics. 31 (5): 827–837. doi:10.1093/hmg/ddab249. ISSN 1460-2083. PMC 8895730. PMID 34542152.
- ^ Verma, Anurag; Damrauer, Scott M.; Naseer, Nawar; Weaver, JoEllen; Kripke, Colleen M.; Guare, Lindsay; Sirugo, Giorgio; Kember, Rachel L.; Drivas, Theodore G.; Dudek, Scott M.; Bradford, Yuki; Lucas, Anastasia; Judy, Renae; Verma, Shefali S.; Meagher, Emma (2022-11-29). "The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population". Journal of Personalized Medicine. 12 (12): 1974. doi:10.3390/jpm12121974. ISSN 2075-4426. PMC 9785650. PMID 36556195.
- ^ Verma, Anurag; Damrauer, Scott M.; Naseer, Nawar; Weaver, JoEllen; Kripke, Colleen M.; Guare, Lindsay; Sirugo, Giorgio; Kember, Rachel L.; Drivas, Theodore G.; Dudek, Scott M.; Bradford, Yuki; Lucas, Anastasia; Judy, Renae; Verma, Shefali S.; Meagher, Emma (2022-11-29). "The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population". Journal of Personalized Medicine. 12 (12): 1974. doi:10.3390/jpm12121974. ISSN 2075-4426. PMID 36556195.
- ^ "Learning Health System Research". April 29, 2025.
- ^ Levin, Michael G.; Tsao, Noah L.; Singhal, Pankhuri; Liu, Chang; Vy, Ha My T.; Paranjpe, Ishan; Backman, Joshua D.; Bellomo, Tiffany R.; Bone, William P.; Biddinger, Kiran J.; Hui, Qin; Dikilitas, Ozan; Satterfield, Benjamin A.; Yang, Yifan; Morley, Michael P. (2022-11-14). "Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure". Nature Communications. 13 (1): 6914. Bibcode:2022NatCo..13.6914L. doi:10.1038/s41467-022-34216-6. ISSN 2041-1723. PMC 9663424. PMID 36376295.
- ^ Verma, Shefali S.; Keat, Karl; Li, Binglan; Hoffecker, Glenda; Risman, Marjorie; Regeneron Genetics Center; Sangkuhl, Katrin; Whirl-Carrillo, Michelle; Dudek, Scott; Verma, Anurag; Klein, Teri E.; Ritchie, Marylyn D.; Tuteja, Sony (2022-11-28). "Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population". Journal of Translational Medicine. 20 (1): 550. doi:10.1186/s12967-022-03745-5. ISSN 1479-5876. PMC 9703665. PMID 36443877.
- ^ Verma, Shefali S.; Keat, Karl; Li, Binglan; Hoffecker, Glenda; Risman, Marjorie; Sangkuhl, Katrin; Whirl-Carrillo, Michelle; Dudek, Scott; Verma, Anurag; Klein, Teri E.; Ritchie, Marylyn D.; Tuteja, Sony; Regeneron Genetics Center (2022-11-28). "Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population". Journal of Translational Medicine. 20 (1): 550. doi:10.1186/s12967-022-03745-5. ISSN 1479-5876. PMC 9703665. PMID 36443877.
- ^ Hui, Daniel; Mehrabi, Shadi; Quimby, Alexandra E.; Chen, Tingfang; Chen, Sixing; Park, Joseph; Li, Binglan; Center, Regeneron Genetics; Biobank, Penn Medicine; Ruckenstein, Michael J.; Rader, Daniel J.; Ritchie, Marylyn D.; Brant, Jason A.; Epstein, Douglas J.; Mathieson, Iain (2023-01-19). "Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort". PLOS Genetics. 19 (1): e1010584. doi:10.1371/journal.pgen.1010584. ISSN 1553-7404. PMC 9888707. PMID 36656851.
- ^ Kim, Jung; Vaksman, Zalman; Egolf, Laura E.; Kaufman, Rebecca; Evans, J. Perry; Conkrite, Karina L.; Danesh, Arnavaz; Lopez, Gonzalo; Randall, Michael P.; Dent, Maiah H.; Farra, Lance M.; Menghani, Neil L.; Dymek, Malwina; Desai, Heena; Hausler, Ryan (2024-01-10). "Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival". Journal of the National Cancer Institute. 116 (1): 149–159. doi:10.1093/jnci/djad183. ISSN 1460-2105. PMC 10777667. PMID 37688579.
- ^ Verma, Anurag; Damrauer, Scott M.; Naseer, Nawar; Weaver, JoEllen; Kripke, Colleen M.; Guare, Lindsay; Sirugo, Giorgio; Kember, Rachel L.; Drivas, Theodore G.; Dudek, Scott M.; Bradford, Yuki; Lucas, Anastasia; Judy, Renae; Verma, Shefali S.; Meagher, Emma (2022-11-29). "The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population". Journal of Personalized Medicine. 12 (12): 1974. doi:10.3390/jpm12121974. ISSN 2075-4426. PMID 36556195.
- ^ Savello, Samantha (2023-12-11). "More than 260,000 Penn Medicine patients have agreed to share their DNA for research via Penn Medicine BioBank". Penn Center for Innovation. Retrieved 2025-04-29.
- ^ Avril, Tom (2023-11-29). "More than 260,000 Penn Medicine patients have agreed to share their DNA for research, and the discoveries are just getting started". Inquirer.com. Retrieved 2025-04-29.
- ^ Verma, Anurag; Damrauer, Scott M.; Naseer, Nawar; Weaver, JoEllen; Kripke, Colleen M.; Guare, Lindsay; Sirugo, Giorgio; Kember, Rachel L.; Drivas, Theodore G.; Dudek, Scott M.; Bradford, Yuki; Lucas, Anastasia; Judy, Renae; Verma, Shefali S.; Meagher, Emma (2022-11-29). "The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population". Journal of Personalized Medicine. 12 (12): 1974. doi:10.3390/jpm12121974. ISSN 2075-4426. PMID 36556195.
- ^ https://pmbb.med.upenn.edu/documents/informed_consent_v12.pdf
- ^ "LGH Joins Penn Medicine BioBank | University of Pennsylvania | Pathology and Laboratory Medicine". pathology.med.upenn.edu. Retrieved 2025-04-29.