Vanderbilt Genome Electronic Records Project

范德比尔特基因组电子记录项目

• 批准号: 8721555
• 负责人: DAN M RODEN
• 金额: $ 19.87万
• 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/8721555
• 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; DNA Repository; 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; 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病历和基因组学（Emerge-L）网络第一阶段的五个站点之一。 VGER团队为在Emerge-L的多个领域的进步做出了重要贡献，包括在范德比尔特和整个网络中开发和部署算法；为网络开发和管理基因型质量控制管道；在范德比尔特和跨网络数据集中发现新的基因型 - 表型关系；积极参与社区咨询和结果归还计划；开发方法来解决数据访问和个人隐私之间的紧张关系；并为该领域开发新的软件工具，包括用于去识别和全景协会研究范式（“ Phewas”）。范德比尔特（Vanderbilt）将个性化的医疗保健确定为整个机构基本发现，翻译和实施的关键战略优先事项；范德比尔特（Vanderbilt）开发的资源（由VGER团队成员指导）包括Starchart，STARCHART是一种具有全面患者特定患者的临床决策支持功能的电子病历（EMR）系统，其中包括> 170万患者的数据； Biovu，将> 100,000个DNA样品与EMR的识别图像联系起来的DNA存储库；并且预测项目创建了一个用于评估基因型 - 表型关系的框架，并将临床上可行的基因型沉积到EMR中。 Biovu目前包含5,186个带有GWAS数据的样本，预计到2011年秋季到16,500次。目前作为现场参与现场的提议基于这一成就记录和机构投资的记录。我们提出了4个具体目标，这些目标将通过在我们网站和整个网络中具有多种学科（临床医学，基础科学，统计学，信息学，隐私科学和伦理学）方面具有专业知识的科学家之间的合作来实现：（1）加速从EMR中提取表型的算法开发和验证。 （2）利用BIOVU和其他数据集中GWA的结果来确定基因型的组合高度预测疾病或药物反应结果。 （3）在预测中实施前瞻性临床基因分型时吸引患者。 （4）开发新工具，以最大程度地提高我们有效共享基因组信息并确保患者机密性的能力。我们赞成一种个性化医学的愿景，其中基因组和其他特定于患者的信息驱动医疗保健，而VGER和Emerge-ll代表了朝着该方向的重要步骤。 相关性：遗传变异如何决定临床重要疾病（例如疾病易感性或药物反应）的变异性的描述代表了人类基因组项目的第一个果实。该提案提出的一个挑战是如何分析和使用这种信息来改善人类健康。 我们加入Emerge-LL网络的建议通过确定对人类健康重要的遗传变异来解决这一挑战，并开始在系统的个性化医疗保健系统中使用这些变异，这在面对临床相关数据的稳定性和复杂性的情况下是可靠且可扩展的。