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）战略计划的首要任务。个性化医学研究所（IPM）于2007年在MSMC建立了一个创新的EMR相关医疗保健设置生物库计划，并获得了慈善资金。IPM Biobank迄今已招募了12，500名同意患者，并每月增加600至700名新参与者，这些参与者来自上曼哈顿种族/民族高度多样化的服务不足的少数民族，受到持续和不可接受的健康差异的影响。IPM的基因组医学研究项目主要集中在异质人群的基因组学上，包括：a）生物库遗传多样性项目，B）3,000多名主要是少数民族生物库参与者中少数民族人群的血管-肾脏GWAS; c）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的复制/验证，2011年年底前，生物库中的患者人数将达到2000人; d）“参与项目”：让社区参与普遍化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）开发和实现一个安全的原型生物库-电子病历基因组数据接口和电子病历支持的基因组临床决策支持在临床护理。(2)开发，验证和贡献CKD，CAD，丙型肝炎/肝病的电子表型库，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型混合少数群体的基因组风险评分。(4)扩展GWAS在少数人群中的心血管和肾脏表型。(5)探索基因组医学社区参与式教育和研究的创新方法。(6)建立和试点一个灵活的和可移植的操作和分析框架，将基因组临床决策支持，帮助心血管预防医学的临床护理。 西奈山医学中心和个性化医学研究所致力于分享这些独特的资源，以推进基因组医学在不同的社区作为eMERGE II网络的成员，并推进基因组知识的临床翻译，以减少健康差距，改善健康结果在不同的社区。 相关性：强调大陆起源和祖先的基因组研究与当今在不同社区迫切需要基因组医学以减少健康差距的临床要求相矛盾。这就需要改变以种族/族裔类别为基础的健康模式。这项工作的重点是建立和评估一个操作和分析框架，将基因组知识转化为基因组临床决策支持，可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.