Genomic Medicine at Northwestern: Discovery and Implementation

西北大学的基因组医学：发现和实施

• 批准号: 9481431
• 负责人: REX L CHISHOLM
• 金额: $ 9.85万
• 依托单位: NORTHWESTERN UNIVERSITY AT CHICAGO
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-09-01 至 2019-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9481431
• 关键词: Algorithms; Attitude; Candidate Disease Gene; Cardiovascular system; Classification; Clinical; Clinical Research; Collection; Community Healthcare; Consent; DNA Sequence; Data; Data Set; Development; Disease; Disease Outcome; Disease susceptibility; Dose; Education; Electronic Health Record; Elements; Enrollment; Environment; Ethics; Family; Genes; Genetic Variation; Genome; Genomic medicine; Genomics; Genotype; Goals; Guidelines; Health Personnel; Healthcare Systems; Institutional Policy; Knowledge; Leadership; Learning; Link; Medical; Medicine; Methods; Modeling; National Human Genome Research Institute; Neurologic; Outcome; Participant; Patient Care; Patients; Pharmaceutical Preparations; Phase; Phenotype; Physicians; Play; Preventive care; Public Health; Recording of previous events; Reporting; Research Infrastructure; Research Personnel; Resources; Role; Sequence Analysis; Site; Structure; System; Therapeutic; Variant; Vision; biobank; chronic rhinosinusitis; clinical care; clinically actionable; clinically relevant; data mining; ethnic diversity; exome; experience; gastrointestinal; genetic variant; genome wide association study; genomic data; genomic variation; improved; legal implication; novel; public health relevance; rapid technique; rare variant; social implication; therapy outcome; tool; trait; whole genome

 DESCRIPTION (provided by applicant): National Human Genome Research Institute's vision for genomic medicine includes elements of both discovery and implementation. This vision seeks to improve the practice of medicine through the appropriate integration of genomic information into clinical care while continuing to better understand fundamentals of genomic variation, genome structure and the role of genetic variation in disease and therapeutic outcomes. The eMERGE network has made critical contributions to discovery by developing methods for high throughput electronic phenotyping using information captured in electronic health records (EHRs) in the course of clinical care and identifying new associations between diseases and quantitative traits with common genetic variants through genome wide associations studies. eMERGE has also provided leadership in implementing genomic medicine by developing interfaces with EHR, clinical decision support, strategies for holding genomic variant information and transferring clinically relevant variants into the EHR, and returning genomic variant information to physicians and patients, both for disease susceptibility and for improving therapeutic management, particularly with prescription and dosing of medications. In addition, development and dissemination of best practices for implementation has been an important goal of eMERGE. As a participant in both eMERGE I and II, Northwestern (NU) through its EHR-linked biobank NUgene, has made significant contributions to all of these activities, with several NU investigators playing key leadership roles. In this application we propose to leverage the infrastructure and expertise at NU to (a) discover associations between rare variants in at least 100 sequenced genes and common variants from the eMERGE GWAS dataset from phenotypes derived from EHR data mining, (b) enroll 2000 patients into the study who agree to receive genomic information and allow the information to be stored in their EHR, (c) return clinically actionable results to healthcare providers and patients to determine utility and clinical outcomes, and (d) develop and share best practices related to returning genomic results, educating physicians and patients, and the related ethical, legal and social implications. Successfully achieving these goals will provide new scientific knowledge and significant real world experience that will advance the NHGRI vision for both discovery and implementation across the spectrum of its strategic vision.

 描述（由申请人提供）：国家人类基因组研究所对基因组医学的愿景包括发现和实施两个要素。这一愿景旨在通过将基因组信息适当整合到临床护理中来改善医学实践，同时继续更好地了解基因组变异，基因组结构以及遗传变异在疾病和治疗结果中的作用的基本原理。eMERGE网络通过在临床护理过程中使用电子健康记录（EHR）中捕获的信息开发高通量电子表型分析方法，并通过全基因组关联研究确定疾病和数量性状与常见遗传变异之间的新关联，为发现做出了重要贡献。eMERGE还通过开发与EHR的接口、临床决策支持、保存基因组变异信息并将临床相关变异转移到EHR的策略，以及将基因组变异信息返回给医生和患者，从而在疾病易感性和改善治疗管理方面发挥领导作用，特别是在处方和药物剂量方面。此外，发展和传播最佳执行做法一直是eMERGE的一个重要目标。作为eMERGE I和II的参与者，西北大学（NU）通过其与EHR相关的生物库NUgene为所有这些活动做出了重大贡献，几位NU研究人员发挥了关键的领导作用。在本申请中，我们建议利用NU的基础设施和专业知识来（a）从EHR数据挖掘衍生的表型中发现至少100个测序基因中的罕见变异与eMERGE GWAS数据集的常见变异之间的关联，（B）将2000名同意接收基因组信息并允许将信息存储在其EHR中的患者纳入研究，（c）将临床上可操作的结果返回给医疗保健提供者和患者，以确定效用和临床结果，以及（d）开发和分享与返回基因组结果、教育医生和患者以及相关的伦理、法律的和社会影响有关的最佳实践。 成功实现这些目标将提供新的科学知识和重要的真实的世界经验，这将推动NHGRI在其战略愿景范围内的发现和实施。