Utah Population Database (UPDB) University of Utah research resource Over 30 years of research Over 11 million documents 79 approved projects

UPDB 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 UPDB Genealogy (over 170,000 family group sheets)1,602,035 Utah birth certificates ( , )2,139,399 Utah marriage and divorce ( ) 818,745 Utah death certificates ( ) 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 ( )2,726,004 Total 11.8 million Linked into ~7.5 million “person records” and across generations

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

UPDB – 4 million individuals ( ) In families of 2 to 11 generations

M F Father (F), Mother (M) and children by birth order Married 1853, 12 Children, 3 Infant deaths (#6, 9, 11) Utah Family, Circa 1900

8 th of 15 children1 st of 5 children CanadaNew YorkEnglandConnecticut MFMF Utah 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) 8 th of 15 children1 st of 5 children Canada New York England Connecticut M F Maternal side Paternal side

Utah: Extraordinary 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 Genetics Utah Cancer Registry (UCR) –state wide since 1966 –NCI Seer registry since % 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 Information U of U Health Sciences Center (UUHSC), Enterprise data warehouse (EDW) –Patient Data to present –Clinical Data 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 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 party Wylie and Mineau, Biomedical databases: protecting privacy and promoting research. Trends in Biotechnology, March, 2003.

Acknowledge Geri Mineau, PhD – Director, Pedigree and Population Resource Jahn Barlow, MPA – Director, Utah Resource of Genetic and Epidemiologic Research Richard Kerber, PhD - Senior Scientist with UPDB PPR Staff:HCI Informatics Staff: Alison Fraser, MSPH Cindy Spigle, BACS Carole Schaefer, BACS Dinny Berry, MS Richard Pimentel, MSCSRobb Cundick, PhD Andy Hammer, BSCS Anne Zeller, BA Emily Smith, MA Solange Gomes, BA