Family Phenotyping Studies – Mark Leppert, PhD; Distinguished Professor of Human
Genetics in the Department of Human Genetics, University of Utah School of Medicine
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Family Phenotyping Studies
1. Mark Leppert, Ph.D Department of Human Genetics, University of Utah, Salt Lake City, Utah Family Phenotyping Studies October 14, 2010
2. Why Does Utah Provide a Unique Genetic Resource? Large Families Plus High Quality Clinical Information are Critical to Provide Insight into the Genetic Variations that Cause Disease
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5. UPDB – 5.45 million individuals by 10-year birth cohorts from about 1740 to 2004
6. UPDB – 3.84 million individuals In families of two to ten generations by 10-year birth cohorts from about 1740 to 2004
7. M F 10 2 7 3 12 8 4 1 5 Father (F), Mother (M) and children by birth order Married 1853, 12 children, 3 infant deaths Utah Family, Circa 1900
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12. High Risk Colon Family Ascertained from Cancer High Risk Clinic DC 73 65 63 84 DC 68 2 sibs 5 sibs 64 59 56 b. 1865 b. 1864 Prostate This pedigree has been trimmed to show individuals with cancer and precancerous polyps. The full pedigree includes 931 family members and 7 generations
13. Statewide Research Network 85% of state 25% of state 60% of state Intermountain Healthcare Huntsman Cancer Institute Fraction of state population served
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17. Utah Population Database Genealogies (Family History Library) Vital Records (Births, Deaths/Fetal Marriages, Divorces) Utah Department of Health Cancer Records (Utah Cancer Registry, Cancer Data Registry of Idaho) Utah Inpatient Hospital Claims (Utah Dept of Health) University of Utah Health Sciences Center Intermountain Healthcare Center for Medicare and Medicaid Studies Social Security Death Records Driver Licenses (Utah Department of Public Safety) Utah Voter Registration
18. Records in UPDB RECORD TYPE RECORDS Family History Records 1,608,131 1880 Census 142,711 Birth Certificates (1915-21, 1947-2008) 2,309,408 Marriage Certificates (1978-2008) 642,080 Divorce Records (1978-2008) 278,629 Death Certificates (1904-2008) 751,343 Fetal Deaths (1978-2008) 8,425 Social Security Death Index 479,491 Utah Cancer Records (1966-2007) 255,516 Idaho Cancer Records (1969-2007) 135,816 Driver License 3,060,281 Inpatient Hospital Claims (1996-2008) 3,284,454 Voter Registration 1,586,962 TOTAL RECORDS 14.1 million LINKS TO EXTERNAL RECORD SETS University of Utah Health Sciences Center 1,375,673 Intermountain Healthcare 3,429,337 Medicare Claims 25,666,447
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Notes de l'éditeur
Update with both names
This uses all individuals with birth years. The 1980’s bar is shorter than 1970’s because individuals who moved to Utah and do not have a driver license are not yet included in the UPDB e.g. those born in 1988 and 1989. Utah had more births in the 1980s than in the 1970s – so that is not the difference in the bars. We are currently linking the 2005 birth certifications and it will be updated.
For example, 432,761 individuals born from 1950-59 are in multi-generation families with 168,267 in two generation families and 264,494 in families with three or more generations.
There are 8 generations in UPDB; the first 6 generations are from genealogy records and the last two from Utah birth certificates. Since death records begin in 1904—we know the cause of death of 6 individuals in the 3 rd generation.
This pedigree has been trimmed to show individuals with cancer or polyps. The full pedigree includes 931 family members and 7 generations. The age of diagnosis is shown for cancer (red). DC means colon cancer diagnosis prior to 1966 and from death certificate.
These are cancer percentages 25% to one third for HCI, 60% for Intermountain
