A Personalized Genomic Medicine Pilot Program Using the NJgene eMERGE Experience

使用 NJgene eMERGE 经验的个性化基因组医学试点计划

基本信息

批准号：
8319350
负责人：
REX L CHISHOLM
金额：
$ 76.25万
依托单位：
NORTHWESTERN UNIVERSITY AT CHICAGO
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 2015-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8319350
关键词：
African American Algorithms Asthma Attitude Cardiac Clinical Collection Consent Consult Consultations Data Deposition Development Diabetes Mellitus Disease Disease susceptibility Electronic Health Record Electronics Elements Focus Groups Genetic Genetic Variation Genome Genomics Genotype Goals Height Human Human Genome Project Hypothyroidism Individual Institutional Review Boards Knowledge Laboratories Learning Link Lipids Logic Measures Medicine Methods Mining Modeling Non-Insulin-Dependent Diabetes Mellitus Outcome Participant Patients Pharmaceutical Preparations Phase Phenotype Physicians Physiological Pilot Projects Population Positioning Attribute Practice Guidelines Primary Care Physician Primary Health Care Principal Investigator Process Recommendation Reporting Research Sampling Site Surveys Testing Therapeutic Toxic effect Variant Work base biobank case control clinical care clinically relevant cohort community consultation exome experience genetic association genome sequencing genome wide association study health record meetings point of care programs response text searching tool

项目摘要

DESCRIPTION (provided by applicant): One promise of the human genome project was to enable genome-informed personalized medicine. During the past four years Northwestern has been a site in the eMERGE network. This consortium of biobanks linked to electronic health records (EHR) has developed portable algorithms to identify cases and controls from EHR data and then performed genome-wide association studies (GWAS) to correlate genetic variation with disease and normal physiological variation in widely measured laboratory values. In response to RFA-HG-10-009, we propose to contribute to the network development of additional phenotype algorithms and the analysis of the genotype data from the Northwestern eMERGE cohort supplemented by approximately 3,000 additional EHR-linked samples, each associated with 660k GWAS genotypes. We will develop a range of phenotypes that will allow us to assess patient and physician attitudes to the utility of genetic information in predicting disease susceptibility, drug response and therapeutic outcomes. Based on these consultations, we propose to develop a modified quality improvement model for determining, in a pilot study, which genotypes might be most valuable to present in a clinical care setting. We will develop a consent model and associated educational methods in support of providing experimental subjects with genotype information in a clinical encounter, including CLIA certified re-genotyping of participants who were previously genotyped for research purposes. At Northwestern, we utilize a widely-deployed, commercial EHR, EPIC, and propose to develop technical approaches for integrating genetic variation data into the health record and to effectively present these results using point-of-care, decision support tools to physicians. A goal of this effort is to develop best practices collaboratively within the network, for reporting of genetic variation data and developing local practice guidelines for using genetic data in primary care clinical encounters. Finally, we propose a rigorous assessment of the impact of these approaches on primary care physicians and their patients, defining the regulatory issues and then disseminating lessons learned and best practice recommendations. Together, the work proposed should provide an assessment of key elements of genome-informed personalized medicine. RELEVANCE: This project begins to answer questions about using genomic analysis and applying it to real world clinical situations. We propose to study the clinical and personal utility of genomic variation in a diverse primary care patient and physician population.

描述（由申请人提供）：人类基因组项目的一个承诺是实现基因组知觉的个性化医学。在过去的四年中，西北航空一直是Emerge Network的一个地点。与电子健康记录相关的生物库联盟（EHR）已开发了便携式算法，以识别来自EHR数据的病例和对照，然后进行全基因组关联研究（GWAS），以将遗传变异与疾病和正常生理变异相关联。。为了响应RFA-HG-10-009，我们建议为其他表型算法的网络开发做出贡献，并分析来自西北新出现队列的基因型数据，并由大约3,000个其他EHR链接样品补充，每种样品都与660k GWAS相关联基因型。我们将开发一系列表型，使我们能够评估患者和医师对遗传信息在预测疾病易感性，药物反应和治疗结果方面的态度。基于这些咨询，我们建议开发一个改良的质量改进模型，以确定一项试点研究，该模型在临床护理环境中可能最有价值。我们将开发一种同意模型和相关的教育方法，以支持在临床遭遇中提供基因型信息提供实验主题，包括CLIA认证的重新生成以前用于研究目的的参与者的参与者。在西北航空公司，我们利用广泛的，商业的EHR，EPIC，并提议开发将遗传变异数据整合到健康记录中的技术方法，并使用对医生的确定点，决策支持工具有效地呈现这些结果。这项工作的一个目的是在网络中协作开发最佳实践，以报告遗传变异数据并制定本地实践指南，以在初级保健临床相遇中使用遗传数据。最后，我们建议对这些方法对初级保健医生及其患者的影响进行严格评估，从而定义监管问题，然后传播汲取的教训和最佳实践建议。拟议的工作共同评估了基因组知识的个性化医学的关键要素。相关性：该项目开始回答有关使用基因组分析并将其应用于现实世界临床情况的问题。我们建议研究各种初级保健患者和医师人群中基因组变异的临床和个人实用性。