Genome-wide Studies from the NUgene Biorespository

描述（由申请人提供）：人类基因组序列的完成和遗传变异的测量使得探索遗传变异和基因-环境相互作用如何促进健康和疾病成为可能。将自然遗传变异与健康状况联系起来需要大量的人类个体基因组，这些基因组在健康状况方面得到了很好的注释。本应用程序的目的是测试与电子医疗记录（emr）相结合的生物储存库可以提供这些注释良好的样本的假设，并且它们可以产生类似于目的开发队列的基因关联。NUgene是一个生物信息库，与EMR开发的表型相关，经广泛同意收集，可以评估个体遗传变异，挖掘EMR的表型，并使用这些数据建立表型和基因型之间的相关性。具体来说，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，以确定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、内部审查委员会、调查人员和社区协商，制定和传播收集、格式化和记录表型和基因型数据的最佳做法；(5)表征和评估NUgene参与者与通过西北大学医疗保健附属机构、芝加哥地区和美国人口接受医疗保健的个人的关系的代表性和多样性；(6)对NUgene DNA病例和对照组进行GWAS，将我们人群中与糖尿病和哮喘相关的遗传变异与之前对更传统定义的糖尿病和哮喘病例进行的GWAS进行比较。在包括社区、研究调查人员以及监管和合规专家在内的利益攸关方的积极参与下，我们将评估和制定最佳做法，利用参与其医疗保健过程的参与者来研究遗传对健康和疾病的影响。这些研究将有助于我们对糖尿病和哮喘的理解，并将提出改进电子病历的建议，这将提高其在研究中的效用，并为基因组信息和电子病历的整合奠定基础，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.