The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population

被引：58

作者：

Verma, Anurag ^{[1
,2
]}

Damrauer, Scott M. ^{[2
,3
,4
]}

Naseer, Nawar ^{[2
]}

Weaver, JoEllen ^{[2
]}

Kripke, Colleen M. ^{[1
,2
]}

Guare, Lindsay ^{[5
]}

Sirugo, Giorgio ^{[1
,2
]}

Kember, Rachel L. ^{[6
]}

Drivas, Theodore G. ^{[1
]}

Dudek, Scott M. ^{[3
]}

Bradford, Yuki ^{[3
]}

Lucas, Anastasia ^{[3
]}

Judy, Renae ^{[4
]}

Verma, Shefali S. ^{[5
]}

Meagher, Emma ^{[1
,2
]}

Nathanson, Katherine L. ^{[1
,7
]}

Feldman, Michael ^{[5
]}

Ritchie, Marylyn D. ^{[3
]}

Rader, Daniel J. ^{[1
,2
,3
]}

机构：

[1] Univ Penn, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA

[2] Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA

[3] Univ Penn, Dept Genet, Philadelphia, PA 19104 USA

[4] Univ Penn, Dept Surg, Div Vasc Surg & Endovascular Therapy, Philadelphia, PA 19104 USA

[5] Univ Penn, Dept Pathol, Philadelphia, PA 19104 USA

[6] Univ Penn, Dept Psychiat, Philadelphia, PA 19104 USA

[7] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA

来源：

JOURNAL OF PERSONALIZED MEDICINE | 2022年 / 12卷 / 12期

基金：

美国国家卫生研究院;

关键词：

genomics; electronic health records; biobank; PMBB; precision medicine; learning health system; POLYGENIC RISK; ASSOCIATION; RECORD;

D O I：

10.3390/jpm12121974

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

摘要：

The Penn Medicine BioBank (PMBB) is an electronic health record (EHR)-linked biobank at the University of Pennsylvania (Penn Medicine). A large variety of health-related information, ranging from diagnosis codes to laboratory measurements, imaging data and lifestyle information, is integrated with genomic and biomarker data in the PMBB to facilitate discoveries and translational science. To date, 174,712 participants have been enrolled into the PMBB, including approximately 30% of participants of non-European ancestry, making it one of the most diverse medical biobanks. There is a median of seven years of longitudinal data in the EHR available on participants, who also consent to permission to recontact. Herein, we describe the operations and infrastructure of the PMBB, summarize the phenotypic architecture of the enrolled participants, and use body mass index (BMI) as a proof-of-concept quantitative phenotype for PheWAS, LabWAS, and GWAS. The major representation of African-American participants in the PMBB addresses the essential need to expand the diversity in genetic and translational research. There is a critical need for a "medical biobank consortium" to facilitate replication, increase power for rare phenotypes and variants, and promote harmonized collaboration to optimize the potential for biological discovery and precision medicine.

引用

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