Genetic Discovery and Application in a Clinical Setting Continuing a Partnership

基因发现及其在临床环境中的应用继续合作

基本信息

批准号：
8721471
负责人：
Gail Pairitz Jarvik
金额：
$ 100.88万
依托单位：
KAISER FOUNDATION HEALTH PLAN OF WASHINGTON
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-08-15 至 2015-11-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8721471
关键词：
Address Adoption Adverse event Algorithms Anemia Antihypertensive Agents Bioethics Blood Pressure Bone Marrow Diseases Caregivers Caring Chromosome abnormality Clinical Clinical Research Clostridium difficile Collaborations Communicable Diseases Communities Computerized Medical Record Consent DNA Data Development Diabetes Mellitus Diarrhea Disease Disease susceptibility Dysmyelopoietic Syndromes Ensure Epidemiology Evidence Based Medicine Excision Focus Groups Fostering Funding Genetic Genetic Polymorphism Genomics Goals HLA Antigens Health Health system Healthcare Hematocrit procedure Herpes zoster disease Herpesvirus Type 3 Incidental Findings Individual Infection Karyotype Knowledge Leadership Libraries Link Low-Density Lipoproteins Medical Medical Records Medical center Medicine Mental Depression Methods Mining Modeling Nail plate Natural Language Processing Needs Assessment Other Genetics Outcome Oxidoreductase Patient Care Patients Pharmaceutical Preparations Pharmacy facility Phenotype Policies Population Positioning Attribute Predisposition Preventive Primary Health Care Principal Investigator Qualifying Reaction Research Research Personnel Resources Serotonin Single Nucleotide Polymorphism Site Solutions Systems Biology Technology Testing Therapeutic United States National Institutes of Health Variant aging population base biobank clinical application clinical care clinical practice clinical research site clinically relevant comparative effectiveness design effectiveness research ethical legal social implication evidence base experience genetic technology genome wide association study improved inhibitor/antagonist leukemia leukocyte antigen typing longitudinal database member novel patient home care patient oriented patient population prototype response reuptake skills standard care trait

项目摘要

DESCRIPTION (provided by applicant): The Seattle eMERGE project aims to bring personal genomics to practice settings by taking advantage of the extensive electronic medical record (EMR) and biorepository of Group Health Cooperative (GH), including a 33-year pharmacy database and longitudinal data on an aging population. Algorithms developed in eMERGE I will be used to combine genome-wide association studies with phenotypes mined from EMRs to discover new polymorphism-phenotype relationships. Target phenotypes are infectious disease susceptibility, specifically to Clostridium difficile diarrhea, shingles from varicella zoster virus, and fungal nail infection, responses to antihypertensive drugs, serotonin-specific reuptake inhibitors, and statins, including adverse events. A new algorithm will follow longitudinal glycemia and hematocrit trajectories, and a novel automated method will detect karyotype abnormalities for assessing correlation to myelodysplasia and leukemia. Data will also support phenotypes investigated at other eMERGE sites. To create a model for introducing genomics into clinical practice, successful needs assessment methods from eMERGE I will engage stakeholders in guiding development of prototype EMR user interfaces in a clinical decision support format. The test case will be human leukocyte antigen-typing for an adverse drug reaction and the setting will be the patient-centered medical home care model developed at GH. This proposal provides the eMERGE network and its collaborators with the Seattle team's unique expertise in using natural language processing (NLP) to extract information from EMRs, and assisting in adoption of NLP methods. To disseminate eMERGE results and foster collaborations, it takes advantage of leadership positions of the investigators, including partners within eMERGE, other consortia and the HMO Research network, especially the potential for developments supported by the NIH Director's Common Fund in biobanking and megaepidemiology. Completion of the aims will reveal new, medically useful markers, improve the linking of high-throughput genomic methods to EMR data, and develop policies and practices for bringing individualized evidence-based medicine to communities. RELEVANCE (See instrucfions): To advance personalized medicine-treatment and preventive care based on individual traits; this project matches small differences in DNA to infectious disease susceptibility and response to statins, serotonin- specific reuptake inhibitors (SSRIs) and blood pressure medications. Methods to use these results in clinical care will be guided by focus groups of patients and caregivers in the patient-centered Group Health system.

描述（由申请人提供）：西雅图出现的项目旨在通过利用广泛的电子医疗记录（EMR）和集团健康合作社（GH）的生物措施来将个人基因组学带入练习环境，其中包括33年的药房数据库和纵向数据在老年人群上。 Emerge I中开发的算法将用于将全基因组关联研究与从EMR开采的表型结合，以发现新的多态性 - 表型关系。目标表型是传染病的敏感性，特别是对艰难梭菌腹泻，水痘带状疱疹病毒的带状疱疹和真菌指甲感染，对抗高毒性药物的反应，5-羟色胺特异性的再摄取抑制剂和statins，包括不良事件，包括不良事件。一种新的算法将遵循纵向血糖和血细胞比容的轨迹，一种新型的自动化方法将检测核型异常，以评估与骨髓增生和白血病相关的相关性。数据还将支持在其他出现站点研究的表型。为了创建一个用于将基因组学引入临床实践的模型，Emerge的成功需求评估方法将吸引利益相关者以临床决策支持格式指导原型EMR用户界面的开发。测试案例将是人类白细胞抗原型，以进行不良药物反应，并且该设置将是GH开发的以患者为中心的医疗家庭护理模型。该建议为Emerge Network及其合作者提供了西雅图团队在使用自然语言处理（NLP）中从EMR中提取信息并协助采用NLP方法的独特专业知识。为了传播出现的结果和促进合作，它利用了调查人员的领导地位，包括Emerge，其他财团和HMO研究网络中的合作伙伴，尤其是NIH导演在生物群和大型ePidemiology方面的共同基金支持的发展潜力。目的的完成将揭示新的，医学上有用的标记，改善高通量基因组方法与EMR数据的联系，并制定将个性化基于证据的医学带给社区的政策和实践。相关性（请参阅指数）：基于个别特征来提高个性化医学治疗和预防性护理；该项目与DNA的微小差异与传染病的敏感性以及对他汀类药物，5-羟色胺 - 特异性再摄取抑制剂（SSRI）和血压药物的反应相匹配。在临床护理中使用这些结果的方法将由以患者为中心的组卫生系统中的患者和护理人员组成。