Biorepository for Genomic Medicine in diverse Communities

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DESCRIPTION (provided by applicant): Enabling Personalized Medicine in clinical care to improve health profiles in diverse communities is a top priority in the strategic plan of The Mount Sinai Medical Center (MSMC) in NYC. The Institute for Personalized Medicine (IPM) established an innovative EMR-linked medical care setting Biobank Program at MSMC in 2007 with philanthropic funding. IPM Biobank has enrolled 12,500 consented patients to date and is adding 600 to 700 new participants each month from racially/ethnically highly diverse underserved minorities of upper Manhattan, subject to persisting and unacceptable health disparities. IPM's genomic medicine research programs are focused on genomics in heterogeneous populations and include: a) Biobank Genetic Diversity project, b) Cardiovascular-Renal GWAS in minority populations in more than 3,000 mostly minority Biobank participants; c) Replication/Validation of high value SNPs for genomic clinical decision support of CAD and CKD prevention, and pharmacogenomics in 20,000 diverse Biobank patients by end of 2011; d) Project ENGAGE: Engaging Neighborhoods in Generalized and Personalized Genomics Education, and community engagement activities. The Specific Aims of this proposal are to: (1) Develop and implement a secure prototype Biobank-EMR genomic data interface and EMR-enabled genomic clinical decision support in clinical care. (2) Develop, validate and contribute electronic phenotyping libraries in CKD, CAD, hepatitis C/liver disease, and adopt and validate phenome-wide association studies (PheWAS) methodologies. (3) Replicate established high value genomic risk and pharmacogenomics markers and validate genomic risk scores in large admixed minority populations from diverse communities in NYC. (4) Expand GWAS for cardiovascular and renal phenotypes across minority populations. (5) Explore innovative approaches for community-participatory education and research in genomic medicine. (6) Establish and pilot a flexible and transportable operational and analytical framework for incorporating genomic clinical decision support aiding cardiovascular preventive medicine in clinical care. Mount Sinai Medical Center and the Institute for Personalized Medicine are committed to share these unique resources to advance genomic medicine in diverse communities as a member of the eMERGE II Network and to advance the clinical translation of genomic knowledge to reduce health disparities and improve health outcomes in diverse communities. RELEVANCE: Genomic research emphasizing continental origin and ancestry stands in contradiction to today's urgent clinical imperative for genomic medicine in diverse communities to reduce health disparities. This requires a shift away from a health paradigm that is founded on racial/ethnic categories. This work is focused on establishing and evaluating an operational and analytical framework for translating genomic knowledge into genomic clinical decision support that can improve health outcomes in diverse communities.