Biorepository for Genomic Medicine in diverse Communities

描述（由申请人提供）：在临床护理中实现个性化医疗，以改善不同社区的健康状况，是纽约西奈山医疗中心（MSMC）战略计划的重中之重。个性化医疗研究所（IPM）于2007年利用慈善资金在MSMC建立了一个创新的电子病历相关医疗保健设置生物银行计划。迄今为止，IPM Biobank已经招募了12,500名同意的患者，并且每个月都在增加600至700名新参与者，这些参与者来自曼哈顿上城的种族/民族高度多样化的服务不足的少数民族，但存在持续的和不可接受的健康差距。IPM的基因组医学研究项目专注于异种人群的基因组学，包括：a)生物银行遗传多样性项目，b) 3000多名少数民族生物银行参与者的心血管-肾脏GWAS；c) 2011年底前在2万名不同Biobank患者中复制/验证用于CAD和CKD预防的基因组临床决策支持和药物基因组学的高价值snp；d) ENGAGE项目：让社区参与广泛和个性化的基因组学教育以及社区参与活动。本提案的具体目标是：(1)开发和实施一个安全的原型生物银行- emr基因组数据接口和emr支持的临床护理基因组临床决策支持。(2)开发、验证和贡献CKD、CAD、丙型肝炎/肝病的电子表型文库，并采用和验证全表型关联研究（PheWAS）方法。(3)复制已建立的高价值基因组风险和药物基因组学标记，并验证来自纽约市不同社区的大量混合少数民族人群的基因组风险评分。(4)在少数民族人群中扩大心血管和肾脏表型的GWAS。(5)探索基因组医学社区参与式教育和研究的创新途径。(6)建立并试点一个灵活、可运输的操作和分析框架，将基因组临床决策支持纳入临床护理，帮助心血管预防医学。作为eMERGE II网络的成员，西奈山医学中心和个性化医学研究所致力于共享这些独特的资源，在不同的社区推进基因组医学，并推进基因组知识的临床转化，以减少不同社区的健康差异和改善健康结果。

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.