utah population database (updb) university of utah research resource over 30 years of research over...

Utah Population Database (UPDB)Utah Population Database (UPDB)

• University of Utah research resource

• Over 30 years of research • Over 11 million documents• 79 approved projects

http://www.hci.utah.edu/groups/ppr/

UPDB ResourceUPDB Resource• Conduct studies that require individual, familial and health

data

• Family histories (mainly Utah and SE Idaho families)– Genealogies: Family History Library, maintained by LDS Church – Family reconstitution: Create families from Utah’s vital records– Link across generations - 11 generations for some families

• Medical information is linked to family histories– State wide cancer records – Utah and Idaho– Vital records: cause of death and medical details from birth certificates– Enterprise Data Warehouse – UUHSC and Intermountain– State wide claims data

Documents Stored in UPDBDocuments Stored in UPDB• Genealogy (over 170,000 family group sheets) 1,602,035• Utah birth certificates (1915-21, 1947-2006) 2,139,399• Utah marriage and divorce (1978-2005) 818,745• Utah death certificates (1904-2006) 722,332• Utah fetal deaths 7,790• Social security death index 479,474• Utah Cancer Registry (in situ and invasive) 234,875• Cancer Data Registry of Idaho 123,737• Driver License 2,888,531• Inpatient Hospital Discharge (1996-2006) 2,726,004• Total 11.8 million

• Linked into ~7.5 million “person records” and across generations

UPDB – 5.67 million individualsUPDB – 5.67 million individualsby 10-year birth cohorts from about 1740 to 2006by 10-year birth cohorts from about 1740 to 2006

561 491 5,320 24,394

71,604

298,129

624,172

360,377

665,857

157,861

0

100,000

200,000

300,000

400,000

500,000

600,000

700,000

800,000

900,000

1740-49 1770-79 1800-09 1830-39 1860-69 1890-99 1920-29 1950-59 1980-89

Birth Cohort

UPDB – 4 million individuals (1740-2006)UPDB – 4 million individuals (1740-2006)In families of 2 to 11 generationsIn families of 2 to 11 generations

433,083

196,137

447,198

115,379

49,708

16,7093,9934795180

100,000

200,000

300,000

400,000

500,000

1740-49 1770-79 1800-09 1830-39 1860-69 1890-99 1920-29 1950-59 1980-89

Birth Cohort

3 -11 generations 2 generations

MF

10 27 3

12

84 1 5

Father (F), Mother (M) and children by birth order

Married 1853, 12 Children, 3 Infant deaths (#6, 9, 11)

Utah Family, Circa 1900

8th of 15 children 1st of 5 children

1807 1802 1817 18191889 1870 1854 1850

Canada New York England Connecticut

M F1837 18351917 1915

1 2 3 4 5 6 7 8 9 10 11 12

1854 1855 1857 1859 1861 1863 1864 1867 1869 1870 1872 18741932 1940 1930 1931 1892 1863 1939 1952 1869 1902 1872 1943

Utah Family in UPDBUtah Family in UPDB

• Spans 11 generations from 1807 to 2006• Couple (in picture): 4,455 descendants (3,950 living)• Paternal side: 6,710 descendants (5,878 living)• Maternal side: 20,166 descendants (17,663 living)

8th of 15 children 1st of 5 children

1807 1802 1817 18191889 1870 1854 1850

Canada New York England Connecticut

M F1837 18351917 1915

1 2 3 4 5 6 7 8 9 10 11 12

1854 1855 1857 1859 1861 1863 1864 1867 1869 1870 1872 18741932 1940 1930 1931 1892 1863 1939 1952 1869 1902 1872 1943

Maternal side Paternal side

Utah: Utah: ExtraordinaryExtraordinary Research Opportunity Research Opportunity

• Identify large families with “affected” family members where the genetic relationships are known.

• Statewide data - Merge genetics with demography/epidemiology– Utah population 2.7 million (2007)

• Low inbreeding rate– Large initial founding population

– High rates of immigration from diverse outside populations

• Extrapolate findings to broad spectrum of US and Western and

Northern European populations• Only such resource in the US

Cancer GeneticsCancer Genetics

• Utah Cancer Registry (UCR) – state wide since 1966– NCI Seer registry since 1973

• 92.7% link to UPDB; • 60.3% three or more generations

• Identify predisposition to disease – APC gene mutation in colon cancer– BRCA1 and BRCA2 breast cancer mutations – P16 gene mutation in melanoma cancer– HPC2 - Prostate cancer susceptibility gene

Link to Medical InformationLink to Medical Information• U of U Health Sciences Center (UUHSC), Enterprise data

warehouse (EDW)– Patient Data - 1990 to present– Clinical Data - 1993 to present– Financial Data – 1990 to present

• Research Infrastructure - Master Subject Index– 1,850,682 patient demographic records– 74% link to person record in UPDB; 83% of Utah residents– 51% in multi-generation families; 59% of Utah residents– 27 projects using linked UUHSC data

Security and ConfidentialitySecurity and Confidentiality• Not a public database – for research only

– Researchers have no electronic access to identifying information

• State of the art database

• Policies and procedures on confidentiality

– All projects are reviewed by IRB and data contributions

• Require researchers to sign confidentiality agreements

• Contact of potential subjects by an appropriate third partyWylie and Mineau, Biomedical databases: protecting privacy and promoting research.

Trends in Biotechnology, March, 2003.

AcknowledgeAcknowledgeGeri Mineau, PhD – Director, Pedigree and Population ResourceJahn Barlow, MPA – Director, Utah Resource of Genetic and

Epidemiologic ResearchRichard Kerber, PhD - Senior Scientist with UPDB

PPR Staff: HCI Informatics Staff:Alison Fraser, MSPH Cindy Spigle, BACSCarole Schaefer, BACS  Dinny Berry, MSRichard Pimentel, MSCS Robb Cundick, PhDAndy Hammer, BSCSAnne Zeller, BAEmily Smith, MASolange Gomes, BA