The Charles Bronfman Institute for Personalized Medicine (IPM) founded the BioMe Biobank Program in September 2007. Since then, over 23,000 participants have enrolled in BioMe, making it the largest human subject research programs at Mount Sinai. Because of the Mount Sinai Health System’s location in upper Manhattan, New York, the BioMe Biobank Program primarily recruits individuals living in neighboring Northern Manhattan communities, Central and East Harlem, and Upper East and West Side. The BioMe cohort represents the ethnic and racial diversity of these local communities, with 25% of African Ancestry (AA), 30% of European Ancestry (EA), 36% of Hispanic or Latino ancestry (HL), and 9% of other ancestry. For detailed demographic information on BioMe participants please view our graph.
As participants in the BioMe Biobank Program, individuals consent to:
- Using their complete electronic medical records (EMR) for phenotypic and exposure data
- Future re-contacting for participation in additional IRB approved research
- Sharing of de-identified phenotypic and genotypic data
In 2011, Mount Sinai was awarded a four-year grant to fund participation of BioMe with the electronic Medical Records and GEnomics (eMERGE) Network of the National Human Genome Research Institute of NIH. Genotype and phenotype data for the initial BioMe Genome-Wide Association Study for cardiovascular, metabolic and renal phenotypes is available at dbGaP. Genotyping (Genome-wide SNP Chip + ExomeChip arrays) of BioMe Biobank participants is ongoing and funded for 15,593 participants, of which 4,811 have been completed (June 2012) and 10,782 remaining are scheduled to be completed by November 2012. Genotype datasets are imputed to the latest version of 1,000 Genomes reference panels.
To support comprehensive data management and analysis, the BioMe team created an efficient and integrated pipeline environment called the BioMe Informatics and Genomic Data Analysis Center (BIGDASC). BIGDASC provides investigators with approved research projects access to de-identified phenotypic information in the Biobank Clinical DataMart, which is updated from the Mount Sinai Data Warehouse weekly. Genotype phenotype association studies are enabled on a project level through access to de-identified genotypic/sequence information deposited in the BioMe Database, or through de novo genotype/sequence analysis of de-identified samples tracked in BioMe LIMS (Laboratory Information Management System). The BioMe DMS (Donor Management System) is a separate database with personal health information (PHI) entered exclusively by BioMe recruiters during participant enrollment. Biobank DMS is only accessible to authorized personnel and generates encrypted participant identifiers for tracking of de-identified samples and data.