Biorepository for Genomic Medicine in diverse Communities

描述(申请人提供)：在临床护理中启用个性化医疗以改善不同社区的健康状况是纽约市西奈山医疗中心(MSMC)战略计划的首要任务。2007年，个性化医学研究所(IPM)在MSMC设立了一个与EMR相关的创新医疗保健背景生物库计划，并提供了慈善资金。到目前为止，IPM Biobank已经招募了12,500名同意的患者，并正在每月增加600至700名新参与者，他们来自曼哈顿上城种族/民族高度多样化、服务不足的少数族裔，受到持续和不可接受的健康差距的影响。IPM的基因组医学研究计划侧重于不同人群中的基因组学，其中包括：a)生物库遗传多样性项目；b)在3,000多名少数族裔人群中进行心血管-肾脏GWA研究；c)复制/验证用于冠心病和CKD预防的基因组临床决策支持的高价值SNPs；以及截至2011年底，在20,000名不同的Biobank患者中进行药物基因组学研究；d)实施项目Engage：让社区参与通用和个性化基因组学教育和社区参与活动。该建议的具体目的是：(1)开发和实现一个安全的Biobank-EMR基因组数据接口原型，并在临床护理中支持EMR的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，并采用和验证表型相关研究(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，并在纽约市不同社区的大型混杂少数民族人群中验证基因组风险分数。(4)在少数民族人群中推广心血管和肾脏表型。(5)探索社区参与式基因组医学教育和研究的创新途径。(6)建立和试点灵活和可移植的操作和分析框架，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。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，作为Emerge II网络的成员在不同社区推广基因组医学，并促进基因组知识的临床翻译，以减少不同社区的健康差距和改善健康结果。 相关性：强调大陆起源和祖先的基因组研究与当今迫切的临床需求相矛盾，即在不同的社区进行基因组医学，以减少健康差距。这需要改变建立在种族/民族类别基础上的健康模式。这项工作的重点是建立和评估一个可操作和分析的框架，将基因组知识转化为基因组临床决策支持，以改善不同社区的健康结果。

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.