Utah Population Database

When Lynn Jorde used to present genetic disease data at conferences across the country, other scientists would scoff, “Oh, that’s just the Utah population.”

Believing that inbreeding is more common among the Latter-Day Saints population, many scientists often qualified research findings coming from Utah. To make his research more relevant to a broad scientific community, Jorde had to prove that Utahns are representative of the national population.

A professor at the Eccles Institute of Human Genetics, Jorde took advantage of a unique resource available on campus. Using the Utah Population Database, which provides genealogical records dating to the mid-1800s, Jorde found that inbreeding in the Utah population is not any higher than the rest of the country.

“[The database] gave us the opportunity to ask the question,” Jorde said. “The study contradicted the common stereotype&It has important medical implications.”

6.5 Million Records

Needing a tool to help study genetic diseases, researchers at the U began constructing the database during the ’70s out of genealogical records provided by The Church of Jesus Christ of Latter-Day Saints. As additional funding became available, the researchers were able to digitize more paper records from the church and add data from other sources.

The database now holds about 1.6 million genealogical records. It has 1.5 million birth certificate records that will eventually date back to 1915 and 628,000 death certificate records to 1905. Driver license data added another 2.3 million records. And the Utah Cancer Registry, which keeps track of cancer patients in the state since 1966, contributed 285,000 records.

The database is unique because no other database has the combination of characteristics it has. The genealogical records followed males and females equally. It tracks an entire population instead of just a minority tied to a religion or social class. Because a large number of European descendants migrated to Utah, the population reflects the composition of the United States.

Richard Cawthon, a research assistant professor of human genetics, uses the database to study aging. Because the database shows the individual’s age at death, Cawthon can find families with members living longer than the average lifespan. If Cawthon is confident the longevity is due to genetics, he would seek additional information and blood samples from the related individuals, then analyze their DNA for similarities. The completeness of the pedigrees narrows his search for these “familial clusters” and makes contacting the families easier.

“Many patients know only their close relatives,” Cawthon said. “We can use the database to find all [of them].”

OK From the Church

The U requires researchers to go through an approval process before accessing the database. After proving the scientific validity of the research project to the Institutional Review Board, the researcher has to convince the Resource of Genetic and Epidemiologic (RGE) committee that it can and will protect the confidentiality of the data.

The committee consists of U researchers and representatives from all the data contributors, including the LDS Church. According to Jean Wylie, the church has rejected only one project during the 14 years she has been RGE’s director.

“We worked it out,” said Wylie, who evaluates the applications before briefing church officials about potential projects, and also coaches the applicants. “I tell the researchers if you do it this way, it would be fine; if you do it the other way, it would not.”

After approval, researchers receive only the data necessary for their studies. Individuals from the database are identified by numbers only. If the researchers need to contact the subjects, the RGE or the cancer registry approaches the individuals for the researchers. If the subjects agree to participate in the research study, and only then, the researchers receive the names of the individuals. Even then, the researchers sometimes do not learn the subjects’ identities because third parties may do all the necessary contacting, such as getting blood samples and filling out questionnaires.

Besides these third-party personnel and the researchers, only six people have access to the names in the database, according to Wylie. These are system administrators and programmers who work for the office of Pedigree and Population Resource (PPR), which handles the technical aspects of the database. Many biomedical researchers do not have any computer expertise and rely on PPR’s staff to help access the data.

“[Medical researchers] don’t hire programmers; they hire clinicians,” explained Gerry Mineau, director of the PPR.

High Participation Rate

Because researchers believe the cause of cancer has a large genetic component and take advantage of the database often, the Huntsman Cancer Institute provides the facility and about half of the funding to maintain the database. The other half comes from the Health Sciences Center and the office of the vice president for research.

Mineau, who has been working with the database almost since its inception, said the database has become more useful as new data are added to it. Her office continually updates it and finds new sources of relevant data.

Researchers also appreciate how cooperative the Utah population is. Sixty to 95 percent of those contacted agree to participate in the research studies.

“It depends how far they have to travel and what they have to do,” Wylie said. “If you make it easy for them, they’d do it.”

“[Researchers] are just stunned about how nice the people are here,” Wylie continued. “The subjects are very knowledgeable about genetics. If [the researchers] ask them about participating in a study about a disease, they don’t ask why.”

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