Sharing statewide health data for genetic research (1 R01 RR021746-01A1)

本研究将促进研究和解决与广泛的家族聚类相关的问题

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).