Genome-wide Studies from the NUgene Biorespository

描述（由申请人提供）： 人类基因组测序的完成和对遗传变异的测量使人们能够探索遗传变异和基因-环境相互作用如何促进健康和疾病。将自然遗传变异与健康状况联系起来需要大量的个体人类基因组，这些基因组在健康状况方面得到了很好的注释。本申请的目的是测试以下假设：与电子病历（EMR）结合的生物储存库可以提供这些注释良好的样本，并且它们可以产生与目的开发的队列相似的基因关联。NUgene是一个与EMR开发表型相关的生物储存库，该表型是在广泛同意的情况下收集的，允许评估个体遗传变异，挖掘表型的EMR，并使用该数据建立表型和基因型之间的相关性。具体而言，我们建议：（1）评估从医疗记录中获得的数据的范围、质量和效用，以识别哮喘和糖尿病病例以及全基因组关联研究（GWAS）的对照;（2）评估我们同意GWAS和数据共享的适当性;（3）评估我们的数据共享计划，并使其与制定的标准保持一致;（4）与参与者、IRB、研究者和社区协商，制定和传播收集、格式化和记录表型和基因型数据的最佳实践;（5）表征和评估NUgene参与者的代表性和多样性，与通过西北大学的医疗保健附属机构接受医疗保健的个人的关系，芝加哥地区和美国人群;（6）对NUgene DNA病例和对照组进行GWAS，以比较我们人群中与糖尿病和哮喘相关的遗传变异与先前对更传统定义的糖尿病和哮喘病例集合的GWAS。随着利益相关者的积极参与，包括社区，研究人员和监管和合规专家，我们将评估和开发最佳实践，以研究遗传对健康和疾病的贡献，使用参与者在他们的医疗保健过程中登记。这些研究将有助于我们对糖尿病和哮喘的理解，并将提出改进EMR的建议，这将提高其研究效用，并为基因组信息和EMR的整合奠定基础，以实现个性化医疗的愿景。

DESCRIPTION (provided by applicant): The completion of the human genome sequence and measurements of genetic variation have enabled the exploration of how genetic variation and gene-environment interactions contribute to health and disease. Associating natural genetic variation with health status requires large numbers of individual human genomes that are well annotated with respect to health status. The goal of this application is to test the hypothesis that biorepositories coupled to electronic medical records (EMRs) can provide these well annotated samples and that they can produce gene associations similar to purpose developed cohorts. NUgene is a biorepository linked to EMR developed phenotypes collected with a broad consent that allows assessment of individual genetic variation, mining of EMRs for phenotypes, and the use of this data for establishing correlations between phenotypes and genotypes. Specifically we propose to: (1) assess the extent, quality and utility of data obtained from medical records to identify cases of asthma and diabetes as well as controls for genome wide association studies (GWAS); (2) evaluate the appropriateness of our consent for GWAS and data sharing; (3) evaluate our data sharing plan and align it with standards as they are developed; (4) develop and disseminate best practices for collecting, formatting, and documenting of phenotypic and genotype data in consultation with participants, IRBs, investigators and the community; (5) characterize and evaluate the representativeness and diversity of NUgene participants in relationship to individuals receiving healthcare through Northwestern's health care affiliates, the Chicagoland area and the US population; (6) perform GWAS on NUgene DNA cases and controls to compare genetic variations associated with diabetes and asthma in our population with previous GWAS on more traditionally defined collections of diabetes and asthma cases. With the active engagement of stakeholders including the community, research investigators and regulatory and compliance experts we will evaluate and develop best practices for studying genetic contributions to health and disease using participants enrolled in the course of their health care. These studies will contribute to our understanding of diabetes and asthma and will produce recommendations for improvements in EMRs that will improve their utility for research and set the stage for integration of genomic information and EMRs with the goal of achieving the vision of personalized medicine.