Utah Population Database UPDB

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Utah Population Database(UPDB)

• Professor Ken R. Smith
• Population Sciences
• Huntsman Cancer Institute
• University of Utah

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Development of a Computerized Population
Database For Research

• 1974
• Program began at the University of Utah
• Build set of family records using genealogies
• Create complex record system
• Link medical records to the family/population
  file
• Create an unusual research opportunity
• Longitudinal information
• Enhance interaction between geneticists,
  demographers, epidemiologists, historians

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Essential Resource for Developing the
UPDBFamily History Library

• Develop a Resource for Family Information
• Family relationships
• Current members and ancestors
• Birth, death and marriage dates and places
• Medical Information
• Primary Source
• Family History Library founded 1894
• Sponsored by Church of Jesus Christ of Latter-day
  Saints (LDS or Mormons)
• Includes Mormons and non-Mormons
• Electronic web search
• http//www.familysearch.org

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Church of Jesus Christ of Latter-day Saints
(Mormons) and Family History

• Why do Mormons family history research?
• Mormons believe that the family continues after
  death.
• This is possible when parents and their children
  make special promises, called covenants, in
  sacred temples.
• These covenants, when made with the authority of
  God and faithfully kept, can unite families for
  eternity.
• For this purpose, Church members make covenants
  in temples on behalf of their ancestors.
• In order to make covenants on behalf of their
  ancestors, members must first identify them.

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The Utah Population Database

• Research resource at University of Utah
• Utah and surrounding states
• Approximately 10 million records (multiple
  records per person)
• Large pedigrees
• Fully Electronic
• Over 25 years of experience in ethical management
  of confidential data

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UPDB - Linked Data Sets
Genealogy Records (1.6 million)
Birth Records and Fetal Deaths (1.8 million)
Death Records (653,000)
Cancer Records (302,000)
Drivers Licenses (2.5 million)
HCFA Follow-up (139,000)
University of Utah Hospital Clinical Records
(1.6 million people)
Medicare Records (500,000 people)
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Design of UPDB

• Research Strategy
• Identify related individuals and family clusters
• Enhance research on genetic predisposition to
  disease
• Enhance research on familial health issues
• Enhance research on family demography
• http//www.hci.utah.edu/groups/ppr/
• Database Design
• Collect all relevant records Archive Records
• Link or map all records about the same person
• Capture many events associated with a person
• Create person-oriented information

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UPDB Family

• Spans 10 generations from 1807 to 2000
• Couple 2,307 descendants (1,941 living)
• Paternal side 4,046 descendants
• Maternal side 13,166 descendants

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UPDB Family
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UPDB Research Projects 45 Projects

• Cancer and Cancer Genetics
• Breast, Colorectal, Melanoma, Ovarian,
  Pancreatic, Prostate
• Statistical analyses of all cancers
• Other Diseases/Conditions
• Aging, Mortality, Longevity
• Aneurysms
• Autism
• Congenital Malformations (laterality disorders)
• Chronic Pain and Treatment Response
• Eye Diseases Macular Degeneration
• Interstitial Lung Disease
• Juvenile Rheumatoid Arthritis
• Obstetric Complications
• Psoriasis
• Type 1 and 2 Diabetes

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Huntsman Cancer InstituteHigh Risk Cancer Clinics

• High Risk Breast Cancer Clinic
• Familial Colon Cancer Clinic and Registry
• Familial Melanoma Research Clinic
• Registry for Familial Pancreatic Cancer

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High Risk Breast Family
BCC HRBCC Participant
1895 1983 Breast 70
1893 1980
Breast 60
Liver 61
BCC Ovarian 63
Ovarian 58
Breast
BCC
BCC BCC BCC BCC
BCC BCC BCC
BCC
BCC BCC
BCC BCC
Breast Melanoma

Breast 37
38
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BCC BCC BCC BCC
BCC
BCC BCC Breast 26

• BRCA1 pedigree 3151 descendants
• 1 of 3 branches enrolled in HRBCC
• Great, great granddaughter of founder couple (at
  top of pedigree)

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UPDB Records
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UPDB Records
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Why Study Utah Families?

• Utah Population in 2000 (2.2 million)
• Large families - beneficial in human genetic
  studies
• Low inbreeding rate
• Large initial founding population
• High rates of immigration from diverse outside
  population
• Representative of broad spectrum of US and
  Western and Northern European populations

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Genetic Disorders for Which Molecular Basis Was
Discovered at theUniversity of Utah
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Administration of UPDB

• Utah Resource for Genetic and Epidemiology
  Research (RGE)
• 1982 Established - Executive Order of Gov.
  Matheson
• Data resource for collection, storage, study and
  dissemination of medical and related information
• For the purpose of reducing morbidity
• 1986 modified by Executive Order
• University of Utah
• Activities covered by Utah Code, Section 26-25-1

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RGE - Administration of UPDB

• RGE does not conduct research
• Governs access to researchers
• Formal application and agreement
• Review by IRB and RGE
• Maintains policies and procedures
• www.research.utah.edu/rge
• Annual review of ongoing projects
• Maintains current confidentiality agreements
• Reviews publications

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Confidentiality in UPDB

• Strict controls on confidentiality
• Database design controls access
• Policies and procedures on access to identifying
  information
• Confidentiality agreements

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