Vanderbilt Genome Electronic Records Project

范德比尔特基因组电子记录项目

• 批准号: 8332920
• 负责人: DAN M RODEN
• 金额: $ 11.16万
• 依托单位: VANDERBILT UNIVERSITY
• 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/8332920
• 关键词: Academic Medical Centers; Address; Algorithms; Area; Back; Basic Science; Biological; Caring; Case Study; Child; Clinical; Clinical Medicine; Clinical Pharmacology; Collaborations; Communities; Computerized Medical Record; Confidentiality of Patient Information; DNA; Data; Data Set; Databases; Decision Support Model; Deposition; Development; Discipline; Disease; Disease susceptibility; Electronics; Ensure; Ethics; Exercise; Faculty; Fruit; Future; Genes; Genetic; Genetic Variation; Genome; Genomics; Genotype; Goals; Health; Healthcare; Human; Human Genome; Human Genome Project; Image; Individual; Informatics; Institution; Investments; Knowledge; Link; Maps; Medicine; Methods; Outcome; Participant; Pathway interactions; Patients; Pharmaceutical Preparations; Pharmacogenomics; Phase; Phenotype; Physicians; Physiological; Population; Privacy; Process; Quality Control; Records; Research; Research Infrastructure; Research Personnel; Resources; Sampling; Science; Scientist; Security; Site; Software Tools; Solutions; Strategic Planning; System; Textiles; Time; Translations; Twin Multiple Birth; Underrepresented Minority; Universities; Validation; Variant; Vision; Work; base; case control; clinically relevant; community consultation; data sharing; density; falls; gene interaction; genetic variant; genome sequencing; genome wide association study; high risk; improved; meetings; member; phenome; programs; prospective; repository; response; statistics; tool; trait

DESCRIPTION (provided by applicant): The Vanderbilt Genome-Electronic Records project was one of five sites in the first phase of the Electronic Medical Records and Genomics (eMERGE-l) network. The VGER team contributed importantly to progress in multiple areas across eMERGE-l, including developing and deploying algorithms for phenotypes at Vanderbilt and across the network; developing and managing the genotype quality control pipeline for the network; discovering new genotype-phenotype relations in Vanderbilt and cross-network datasets; actively participating in the community consultation and return of results initiatives; developing methods to resolve tensions between data access and individual privacy; and developing new software tools for the field, including for de-identification and for the phenome-wide association study paradigm ("PheWAS"). Vanderbilt has identified Personalized Healthcare as a key strategic priority for investment in basic discovery, translation, and implementation across the institution; resources developed at Vanderbilt (directed by VGER team members) include StarChart, an electronic medical record (EMR) system with comprehensive patient-specific clinical decision support functionality that includes data on >1.7 million patients; BioVU, the DNA repository that links >100,000 DNA samples to a de-identified image of the EMR; and the PREDICT project which has created a framework for evaluating genotype-phenotype relations and is depositing clinically actionable genotypes into the EMR. BioVU currently includes 5,186 samples with GWAS data, projected to >16,500 by fall 2011. The present proposal to participate as a site in eMERGE-ll builds on this record of accomplishment and on institutional investments. We propose 4 specific aims that will be accomplished by collaborations among scientists with expertise in diverse disciplines (clinical medicine, basic science, genomics, statistics, informatics, privacy science, and ethics) at our site and across the network: (1) to accelerate development and validation of algorithms for phenotype extraction from EMRs. (2) To exploit the results of GWAS in BioVU and other datasets to identify combinations of genotypes highly predictive of disease or drug response outcomes. (3) To engage patients as we implement prospective clinical genotyping in PREDICT. (4) To develop new tools to maximize our ability to effectively share genomic information and ensure patient confidentiality. We subscribe to a vision of Personalized Medicine in which genomic and other patient-specific information drives healthcare, and VGER and eMERGE-ll represent important steps in that direction. RELEVANCE: Descriptions of how genetic variation determines variability in clinically important conditions like disease susceptibility or drug responses represent the first fruits of the Human Genome Project. A challenge - that this proposal addresses - is how to analyze and use this torrent of information to improve human health. Our proposal to join the eMERGE-ll network addresses this challenge by identifying genetic variants important for human health and beginning to use these in a systems approach to personalized healthcare that is robust and scalable in the face of the escalating volume and complexity of clinically relevant data.

描述(由申请人提供)：范德比尔特基因组-电子记录项目是电子医疗记录和基因组学(Emerge-L)网络第一阶段的五个站点之一。VGER团队对Emerge-L的多个领域的进展做出了重要贡献，包括在Vanderbilt和整个网络开发和部署表型算法；开发和管理网络的基因质量控制管道；在Vanderbilt和跨网络数据集中发现新的基因-表型关系；积极参与社区协商和结果返回倡议；开发解决数据获取和个人隐私之间的紧张关系的方法；以及为该领域开发新的软件工具，包括用于去身份识别和全基因组关联研究范式(“Phewas”)。Vanderbilt已将个性化医疗确定为整个机构在基础发现、翻译和实施方面投资的关键战略重点；Vanderbilt开发的资源(由VGER团队成员指导)包括StarChart，这是一种具有全面的患者特定临床决策支持功能的电子医疗记录(EMR)系统，其中包括170万患者的数据；BioVU，DNA存储库，将&gt；100,000个DNA样本链接到EMR的去识别图像；以及预测项目，该项目创建了一个评估基因-表型关系的框架，并正在将临床上可操作的基因类型存储到EMR中。BioVU目前包括5,186个样本，其中包括GWAS数据，预计到2011年秋季将达到16,500个样本。目前关于作为一个地点参加Emerge-II的提议是建立在这一成就记录和机构投资的基础上的。我们提出了4个具体目标，这些目标将通过拥有不同学科(临床医学、基础科学、基因组学、统计学、信息学、隐私科学和伦理学)专业知识的科学家在我们的网站和整个网络上的合作来实现：(1)加快从EMR中提取表型的算法的开发和验证。(2)利用BioVU和其他数据集的GWAS结果来确定高度预测疾病或药物反应结果的基因类型组合。(3)在进行前瞻性临床基因分型预测时，让患者参与进来。(4)开发新的工具，最大限度地提高我们有效共享基因组信息和确保患者保密的能力。我们赞同个性化医学的愿景，即基因组和其他患者特定信息推动医疗保健，而VGER和Emerge-ll代表着朝着这个方向迈出的重要一步。 相关性：对遗传变异如何决定疾病易感性或药物反应等临床重要疾病的变异性的描述代表了人类基因组计划的第一个成果。这项提案解决的一个挑战是如何分析和利用这些信息洪流来改善人类健康。我们加入Emerge-ll网络的建议通过识别对人类健康重要的基因变异并开始将其用于个性化医疗保健的系统方法来解决这一挑战，该系统方法在面对不断增长的临床相关数据的数量和复杂性时是稳健和可扩展的。