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Utah Population Database

Ken R. Smith, PhD

The Utah Population Database (UPDB) Shared Resource is a rich resource for cancer research involving genetic, epidemiological, demographic, public health, and health services delivery studies. The majority of families residing in Utah are represented in the database, with a special emphasis on genealogy records of the European founders of Utah and their Utah descendants. Studies using UPDB rely on the linkage between UPDB pedigree structure data, its extensive stores of information about disease incidence and prevalence, and a wide range of additional demographic, geographic, and vital information. Currently, the UPDB Shared Resource provides access to linked person-based records for more than 7.7 million individuals; updates to many data sets are added annually. For 35 years, researchers have used UPDB to identify and study families with an excess incidence of cancer, analyze patterns of genetic inheritance, and identify specific genetic mutations. Because of the predominance of large families in Utah, research utilizing UPDB has the advantage of large kindreds—30,000 members is not unusual—for linkage maps and gene discoveries. To date, UPDB has been used to identify a large number of human disease susceptibility genes, including major genes in the following cancers: neurofibromatosis type I (NF1), familial adenomatous polyposis coli (APC), breast cancer (BRCA1/BRCA2), and melanoma (CDKN2A).

UPDB Shared Resource faculty and staff provide services to build and maintain the UPDB Resource and to make UPDB information useful to investigators. Specifically, the UPDB Shared Resource: 1) identifies and links appropriate sources of data and helps to secure new sources of information; 2) creates complex data sets used to investigate multigenerational pedigrees and identify high-risk cancer families for epidemiological/ environmental studies and genetics projects; 3) develops analysis tools and constructs statistical estimates of exposures and familial cancer risk within large pedigrees; 4) collaborates on research designs and obtains human subjects approvals; and 5) provides guidance on studies requiring subject recruitment. Software developed in collaboration with the Research Informatics (RI) Shared Resource readily provides information about cancer risk, segregation patterns, and pedigree size from UPDB information.

The UPDB enables cancer susceptibility gene discovery involving both basic and clinical researchers from many disciplines and disease areas. Gene discovery through UPDB leads to molecular target investigations with the goal of improving treatment, clinical genetic testing, behavioral research, and syndrome characterization. Overall, the UPDB Shared Resource fundamentally contributes to the Huntsman Cancer Institute (HCI) mission to promote high-quality scientific and clinical research to better understand the basis of cancer and effectively and compassionately treat cancer patients. The UPDB Shared Resource is the only such database in the United States and one of few such resources in the world; this unique resource facilitates cancer research in ways that are unparalleled in any other National Cancer Institute (NCI) Cancer Center.

The UPDB Shared Resource aims to do the following:

  • Match and link individuals in population-based, multigenerational pedigrees, cancer registry data, medical and vital records, demographic profiles, and geospatial markers, as well as manage and thus expand the database to create a resource that contributes extensively to the research mission of HCI and significantly facilitates the scientific productivity of its members.
  • Provide advanced data management and statistical support related to the use of the UPDB for studies related to gene discovery, identification of high-risk cancer families, epidemiology of environmental risk factors affecting cancer incidence and mortality, and gene-environment interactions.
  • Facilitate the identification and recruitment of specific families and individuals whose DNA and related biospecimens will be used to study the genetics and genetic epidemiology of cancer.

For more information, please see the Utah Population Database website.


Utah Population Database Governance

HCI Senior Director Oversight
Saundra Buys, MD

Faculty Advisory Committee Chair
Geraldine Mineau, PhD

Faculty Advisory Committee Members
Jahn Barlow, MPA
Jeffrey Botkin, MD
Diana Brixner, PhD
Julio Facelli, PhD
Steven Guthery, MD
Kathleen Mooney, PhD
Barry Nangle, PhD
Jewel Samadder, MD
Ming Wen, PhD

If use of this resource results in a publication, please acknowledge the Cancer Center Support Grant by using the following text: "The project described was supported by Award Number P30CA042014 from the National Cancer Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Cancer Institute or the National Institutes of Health."