Biorepository for Genomic Medicine in diverse Communities

不同社区的基因组医学生物样本库

• 批准号: 8193636
• 负责人: Erwin P. Bottinger
• 金额: $ 84.75万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-15 至 2015-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8193636
• 关键词: Accident and Emergency department; Adopted; Biomedical Research; CYP2C19 gene; Cardiovascular system; Caring; Categories; Clinical; Clinical Data; Clinical Decision Support Systems; Commit; Communities; Community Health Education; Computerized Medical Record; Consent; Custom; DNA; Data; Data Analyses; Data Sources; Databases; Education; Electronics; Enrollment; Future; Genetic Variation; Genomics; Goals; Health; Hepatitis C; Informatics; Informed Consent; Inpatients; Institutes; Institutional Review Boards; Kidney; Knowledge; Lead; Libraries; Link; Liver diseases; Medical; Medical Electronics; Medical center; Medicine; Methodology; Minority; Neighborhoods; Outcome; Outpatients; Participant; Patients; Perception; Pharmacogenomics; Phenotype; Philanthropic Fund; Physicians; Plasma; Population; Population Heterogeneity; Prevalence; Prevention; Preventive Medicine; Protocols documentation; Public Health; Quality Control; Recontacts; Records; Research; Research Infrastructure; Research Personnel; Resources; Risk; Sampling; Secure; Services; Site; Strategic Planning; System; Time; Translating; Translations; Underrepresented Minority; Validation; Visit; Work; base; biobank; burden of illness; clinical care; data management; data mining; demographics; flexibility; genome wide association study; health disparity; improved; infrastructure development; innovation; member; mortality; novel strategies; phenome; programs; prototype; racial and ethnic; repository; tool

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.

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市西奈山医疗中心 (MSMC) 战略计划的首要任务。个性化医疗研究所 (IPM) 于 2007 年利用慈善资金在 MSMC 建立了一个与 EMR 相关的创新医疗保健环境生物银行计划。迄今为止，IPM Biobank 已招募了 12,500 名同意的患者，并且每个月都会增加 600 至 700 名新参与者，他们来自曼哈顿上城种族/族裔高度多样化、服务不足的少数群体，这些群体面临着持续存在且不可接受的健康差异。 IPM 的基因组医学研究项目专注于异质人群的基因组学，包括：a) 生物库遗传多样性项目，b) 少数族裔心血管-肾脏 GWAS，涉及超过 3,000 名大多数是少数族裔的生物库参与者； c) 到 2011 年底，在 20,000 名不同生物样本库患者中复制/验证高价值 SNP，以支持 CAD 和 CKD 预防的基因组临床决策以及药物基因组学； d) 参与项目：让社区参与广义和个性化基因组学教育以及社区参与活动。该提案的具体目标是： (1) 开发并实施安全原型 Biobank-EMR 基因组数据接口以及临床护理中支持 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/肝病的电子表型库，并采用和验证全表组关联研究 (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，并在纽约市不同社区的大量混合少数群体中验证基因组风险评分。 (4) 扩大少数民族人群心血管和肾脏表型的 GWAS。 (5)探索基因组医学社区参与教育和研究的创新方法。 (6) 建立并试点一个灵活、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中，以帮助心血管预防医学。 作为 eMERGE II 网络的成员，西奈山医疗中心和个性化医学研究所致力于分享这些独特的资源，以推进不同社区的基因组医学，并推进基因组知识的临床转化，以减少健康差距并改善健康结果多元化的社区。 相关性：强调大陆起源和血统的基因组研究与当今不同社区基因组医学减少健康差异的紧迫临床需求相矛盾。这需要改变基于种族/民族类别的健康范式。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，从而改善不同社区的健康结果。