Sharing statewide health data for genetic research

共享全州健康数据以进行基因研究

• 批准号: 7259754
• 负责人: GERALDINE P MINEAU
• 金额: $ 22.43万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2010-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7259754
• 关键词: Accident and Emergency department; Address; Age; Ambulatory Surgical Procedures; Birth Certificates; Birth Weight; Blood; Categories; Code; Collaborations; Collection; Complex; Computer software; Condition; Confidentiality; Data; Data Set; Data Sources; Databases; Death Certificates; Development; Diagnosis; Disease; Distant; Documentation; Educational process of instructing; Evaluation; Extended Family; Familial disease; Family; Family history of; Family member; Future; Genealogy; Genes; Genetic; Genetic Databases; Genetic Research; Gestational Age; Health; Hereditary Disease; Hospitals; Housing; Individual; Inpatients; Institution; Internet; Link; Medicine; Methodology; Methods; Mission; Mothers; Mutation; Outcome; Patients; Phenotype; Policy Developments; Population; Population Database; Prenatal care; Procedures; Process; Production; Public Health; Purpose; Range; Recording of previous events; Records; Relative (related person); Research; Research Infrastructure; Research Personnel; Resources; Science; Secure; Social Security Number; Statistical Models; System; Testing; Time; Training; United States; Universities; Utah; Work; administrative database; base; data acquisition; design; development policy; encryption; family structure; genetic pedigree; kindred; member; programs; research study; sex; tool; web interface

DESCRIPTION (provided by applicant): This study will facilitate research and address questions associated with familial clustering of a wide range of diseases. The purpose is to create a research resource of unmatched value to the personalization of medicine within the United States while at the same time maintaining the confidentiality of individuals. There is an increasing need to facilitate the access of researchers to existing data acquisitions. This proposal provides the methodology for integration of two extremely large data repositories and the resulting research infrastructure will harness an unprecedented volume of data that is currently held in separate institutions. The Utah State Department of Health and the University of Utah will collaborate to integrate millions of records in order to provide such a resource. Evidence suggests that few diseases have a simple genetic basis, that is, one that is caused by fully penetrant mutations in single genes. Instead, most disorders are complex, meaning that many genes may contribute to the development of the disease. The linked data sets, created through this proposal, will allow researchers to investigate complex genetic disorders, accomplishing science that would otherwise not be possible. Claims data (ICD9 codes) that are part of statewide, administrative databases at the Utah State Department of Health will be used to provide information on diagnosis. Genealogical records and linked birth certificates that are part of one of the largest such collections worldwide, the Utah Population Database, will provide family structure. There are three specific aims: 1. Develop methodology for data sharing in a secure and confidential manner between institutions. 2. Create and maintain linked data sets between health data and the Utah Population Database. 3. Develop secured web query tools, modify kinship analysis tools and instruct researchers in their use. The outcome will create a new data source to be used in future research studies, one in which extensive health histories of individuals are coordinated with documentation of those individuals as part of their larger extended family (kindred or pedigree).

描述（由申请人提供）：本研究将促进研究并解决与多种疾病的家族聚集性相关的问题。其目的是创造一个研究资源的无与伦比的价值，以个性化的医疗在美国，而在同一时间保持个人的机密性。越来越需要为研究人员获取现有数据提供便利。该提案提供了整合两个超大型数据储存库的方法，由此产生的研究基础设施将利用目前由不同机构持有的前所未有的数据量。犹他州卫生部和犹他州大学将合作整合数百万份记录，以提供这样的资源。有证据表明，很少有疾病有一个简单的遗传基础，也就是说，一个是由完全渗透突变的单一基因。相反，大多数疾病是复杂的，这意味着许多基因可能有助于疾病的发展。通过该提案创建的关联数据集将使研究人员能够调查复杂的遗传疾病，完成否则不可能完成的科学。索赔数据（ICD 9代码）是犹他州卫生部全州行政数据库的一部分，将用于提供诊断信息。犹他州人口数据库是全球最大的此类数据库之一，其中的家谱记录和相关出生证明将提供家庭结构。有三个具体目标： 1.制定各机构之间以安全和保密的方式分享数据的方法。 2.创建并维护健康数据与犹他州人口数据库之间的链接数据集。 3.开发安全的网络查询工具，修改亲属关系分析工具并指导研究人员使用。 研究结果将创建一个新的数据源，用于未来的研究，其中个人的广泛健康史与这些个人作为其更大的大家庭（亲属或谱系）的一部分的文件相协调。