Medicine:Penn Medicine BioBank

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Short description: Medical academic biobank


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][excessive citations]

It has enrolled over 260,000 participants, with about 30% identifying as non-European ancestry.[3][10][11] Participants contribute an average of seven years of electronic health record data and consent to recontact for further studies.[3][12][13]

References

  1. ↑ Park, Joseph; Packard, Elizabeth A.; Levin, Michael G.; Judy, Renae L.; Regeneron Genetics Center; Damrauer, Scott M.; Day, Sharlene M.; Ritchie, Marylyn D. et al. (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. PMID 34542152. 
  2. ↑ Verma, Anurag; Damrauer, Scott M.; Naseer, Nawar; Weaver, JoEllen; Kripke, Colleen M.; Guare, Lindsay; Sirugo, Giorgio; Kember, Rachel L. et al. (2022-11-29). "The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population" (in en). Journal of Personalized Medicine 12 (12): 1974. doi:10.3390/jpm12121974. ISSN 2075-4426. PMID 36556195. 
  3. ↑ 3.0 3.1 3.2 Verma, Anurag; Damrauer, Scott M.; Naseer, Nawar; Weaver, JoEllen; Kripke, Colleen M.; Guare, Lindsay; Sirugo, Giorgio; Kember, Rachel L. et al. (2022-11-29). "The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population" (in en). Journal of Personalized Medicine 12 (12): 1974. doi:10.3390/jpm12121974. ISSN 2075-4426. PMID 36556195. 
  4. ↑ "Learning Health System Research". April 29, 2025. https://www.med.upenn.edu/clinicalresearch/learning-health-system-research.html#ThePennMedicineBioBankPMBB1. 
  5. ↑ Levin, Michael G.; Tsao, Noah L.; Singhal, Pankhuri; Liu, Chang; Vy, Ha My T.; Paranjpe, Ishan; Backman, Joshua D.; Bellomo, Tiffany R. et al. (2022-11-14). "Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure". Nature Communications 13 (1): 6914. doi:10.1038/s41467-022-34216-6. ISSN 2041-1723. PMID 36376295. Bibcode: 2022NatCo..13.6914L. 
  6. ↑ Verma, Shefali S.; Keat, Karl; Li, Binglan; Hoffecker, Glenda; Risman, Marjorie; Regeneron Genetics Center; Sangkuhl, Katrin; Whirl-Carrillo, Michelle et al. (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. PMID 36443877. 
  7. ↑ Verma, Shefali S.; Keat, Karl; Li, Binglan; Hoffecker, Glenda; Risman, Marjorie; Sangkuhl, Katrin; Whirl-Carrillo, Michelle; Dudek, Scott et al. (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. PMID 36443877. 
  8. ↑ Hui, Daniel; Mehrabi, Shadi; Quimby, Alexandra E.; Chen, Tingfang; Chen, Sixing; Park, Joseph; Li, Binglan; Center, Regeneron Genetics et al. (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" (in en). PLOS Genetics 19 (1). doi:10.1371/journal.pgen.1010584. ISSN 1553-7404. PMID 36656851. 
  9. ↑ Kim, Jung; Vaksman, Zalman; Egolf, Laura E.; Kaufman, Rebecca; Evans, J. Perry; Conkrite, Karina L.; Danesh, Arnavaz; Lopez, Gonzalo et al. (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. PMID 37688579. 
  10. ↑ Savello, Samantha (2023-12-11). "More than 260,000 Penn Medicine patients have agreed to share their DNA for research via Penn Medicine BioBank" (in en-US). https://pci.upenn.edu/more-than-260000-penn-medicine-patients-have-agreed-to-share-their-dna-for-research-via-penn-medicine-biobank/. 
  11. ↑ 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" (in en). https://www.inquirer.com/health/penn-medicine-biobank-dna-research-20231129.html. 
  12. ↑ "The Penn Medicine BioBank". https://pmbb.med.upenn.edu/documents/informed_consent_v12.pdf. 
  13. ↑ "LGH Joins Penn Medicine BioBank | University of Pennsylvania | Pathology and Laboratory Medicine" (in en). https://pathology.med.upenn.edu/department/newsletter/winter-2025-issue/lgh-joins-penn-medicine-biobank. 



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