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BioServe: BioMe Biobank as a Resource for Research

Since September 2007, 29483 Mount Sinai Medical Center (MSMC) patients have enrolled in the Electronic Medical Record-linked BioMe Biobank developed at the Institute for Personalized Medicine (IPM). BioMe is designed to generate a large collection of DNA and plasma samples, and genomic data that are stored in a way that protects patients' privacy while enabling research to be performed on de-identified comprehensive electronic clinical information extracted from the Mount Sinai Data Warehouse (MSDW).

BioMe operations are fully integrated in clinical care processes, including direct recruitment from clinical sites' patient care areas by dedicated BioMe recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 25 clinical care sites. Participating patients provide informed consent for research on a de-identified image of their data as well as open future biomedical research including permission for re-contacting. Over 70% (~14,000) of enrolled patients reside in local communities surrounding the main campus of MSMC, and are cared for by Mount Sinai physicians for primary or subspecialty care/needs. The BioMe Biobank population is characterized by racial/ethnic diversity, rich and longitudinal phenotyping opportunities, and enormous disease burden associated with health disparities. The three major self-reported racial/ethnic populations include 34% EA, 26% AA, 37% HA. The burden from common disorders, including diabetes, hypertension, lipidemias, heart disease, kidney disease, and liver disease are enormous.

Since 2008, IPM has been aggressively engaged in a genotyping program, aiming to generate genotype data on all BioMe participants. DNA and plasma are available for all participants. The following are completed and ongoing projects:
  1. Affymetrix 6.0 . cohort selected for enrichment of cardiovascular, renal and metabolic traits (completed October 2010):
    • ~850 AA (data available)
    • ~750 EA (data available)
    • ~1200 HA (data available)
  2. Illumina OmniExpress + Exome array. cohort selected on the basis of self-reported ancestry (ongoing):
    • ~4000 AA (data available late summer 2012)
    • ~3000 EA (data available early 2013)
    • ~5500 HA (data available early 2013)
  3. Illumina Exome array. for the Affymetrix 6.0 cohort (ongoing):
    • ~850 AA (data available late summer 2012)
    • ~750 EA (data available late summer 2012)
    • ~1200 HA (data available late summer 2012)
In summary, by early 2013 we anticipate that we will have GWAS and Exome chip data on ~16,000 BioMe participants (~5000 AA, ~4000 EA,~7000 HA).