Vanderbilt Genome-Electronic Records Project

描述(由申请人提供)：VGER：Vanderbilt基因组-电子记录项目个性化医疗的一个重要的潜在支持资源是DNA存储库与电子医疗记录(EMR)系统的结合，该系统足够强大，可以提供卓越的临床护理，并作为分析患者群体中疾病易感性和治疗结果的资源。Vanderbilt EMR是一种最先进的临床和研究工具(包括140万条记录)，并与一个已经开发了3年多的DNA存储库相关联；这些是这里建议的Vanderbilt Genome-Electronic Records项目VGER的关键组件。VGER模型从从常规患者护理中收集的废弃血液样本中获取DNA，并可以将这些DNA与从EMR中提取并随时更新的去身份数据联系起来。我们将在这里分析的表型是心电图上的QRS时限，因为慢传导(由较长的QRS时限表示)是心律失常易感性的标志。这不仅将利用基因组范围协会(GWA)方法的力量来生成影响公共卫生关切领域的新生物知识，而且还将为开发工具提供平台，例如自然语言处理方法，以优化挖掘EMR。该项目汇集了一组在基因组科学、医学伦理学、生物信息学、去身份识别科学以及翻译和心血管医学方面取得成就的国家公认的研究人员团队，以解决四个具体目标：(1)对QRS持续时间处于正常范围极端的受试者进行GWA比较，并通过对前瞻性确定的临床试验集中QRS持续时间和心律失常易感性的高概率关联进行基因分型来验证；(2)评估EMR数据的结构化和非结构化成分用于基因组-表型相关性的有效性和实用性；(3)评估VGER模式在伦理、科学和社会方面的优势和劣势，并随着资源的增长确定监督、社区参与和沟通的最佳实践；以及(4)为来自数据库和EMR的数据开发和评估正式的隐私保护模式，建立数据共享和整合实践。我们还在此提出了建立行政协调中心的建议，其任务是促进该网络中的节点、NHGRI和外部顾问之间的沟通和合作。我们赞同个性化医疗的愿景，即基因组和其他针对患者的信息推动个性化、预测性、先发制人和参与性的医疗保健，而VGER是朝着这个方向迈出的重要一步。

DESCRIPTION (provided by applicant): VGER: The Vanderbilt Genome-Electronic Record project An important potential enabling resource for Personalized Medicine is the combination of a DNA repository with Electronic Medical Record (EMR) systems sufficiently robust to provide excellence in clinical care and to serve as resources for analysis of disease susceptibility and therapeutic outcomes across patient populations. The Vanderbilt EMR is a state of the art clinical and research tool (that includes >1.4 million records), and is associated with a DNA repository which has been in development for over 3 years; these are the key components of VGER, the Vanderbilt Genome-Electronic Records project proposed here. The VGER model acquires DNA from discarded blood samples collected from routine patient care, and can link these to de-identified data extracted and readily updated from the EMR. The phenotype we will analyze here is the QRS duration on the electrocardiogram, since slow conduction (indicated by longer QRS duration) is a marker of arrhythmia susceptibility. This will not only exploit the power of Genome-Wide Association (GWA) approaches to generate new biologic knowledge that impacts an area of public health concern, but also provides a platform for the development of tools, such as Natural Language Processing approaches, to optimally mine EMRs. This project brings together a team of investigators with nationally recognized records of accomplishment in genome science, medical ethics, bioinformatics, de-identification science, and translational and cardiovascular medicine to address four Specific Aims: (1) perform a GWA comparing samples from subjects with QRS durations at the extremes of the normal range, and validate by genotyping high likelihood associations in prospectively ascertained clinical trial sets for QRS duration and for arrhythmia susceptibility; (2) evaluate the validity and utility of structured and unstructured components of EMR data for genome-phenome correlations; (3) assess the ethical, scientific, and societal advantages and disadvantages of the VGER model, and determine best practices for oversight, community involvement, and communication as the resource grows; and (4) develop and evaluate formal privacy protection models for data derived from databanks and EMRs, establishing data sharing and integration practices. We also include here a proposal to develop the Administrative Coordinating Center whose mission will be to facilitate communication and collaboration among nodes in this network, the NHGRI, and external advisors. We subscribe to a vision of Personalized Medicine in which genomic and other patient-specific information drives personalized, predictive, preemptive, and participatory health care, and VGER represents an important step in that direction.