by Ann Jardine
Utah, famous for its large families and penchant for genealogy, is home to an unusual assemblage of relatives, one that does not include kin from the same clan meeting together with casseroles at picnics. The reunions, although familial, are informational, taking place in the Utah Population Database (UPDB), an unparalleled computerized integration of pedigrees, vital statistics, and public and cancer records.
With more than seven million linked records distilled from 11 million people registered in various paper and computer logs, the UPDB is a gold mine for biomedical researchers, a rich resource of information for genetic, epidemiological, demographic, and public health studies. Much the same as sorting family members according to physical features—a brother, sister, and aunt, for example, might share the same hair color, laugh, and detached earlobes—correlating these data in the UPDB allows for identification of relatives that have familial clustering (or a high prevalence) of diseases or outcomes.
Research using the UPDB has already produced meaningful genetic discoveries,
including identification of mutations in the BRCA1 gene, which significantly
increase the chance of developing breast and/or ovarian cancer. The UPDB
resource was also used in discovering the gene for Familial Adenomatous
Polyposis, or FAP, which can lead to colon cancer.
As Huntsman Cancer Institute (HCI) Executive Director Stephen M. Prescott notes, “Genetics has revolutionized the way we look at cancer. The answers to our complex questions about cancer lie in our genes.”
Most people in Utah are represented in UPDB through vital records. The vast database comprises statistics that include:
Contributions from each of these sources and the fact that the UPDB is located in Utah, nationally known for the study of genetics, make the robust database especially valuable to researchers and scientists.
“Utah families often have extraordinarily well-kept family records, and many generations are willing to participate in our genetic studies,” observes Prescott.
Key to the success and vitality of the UPDB is the fact that data can only be used for biomedical and health-related research, and policies protecting the privacy and confidentiality of individuals represented in the records have been negotiated in strict and highly regulated agreements with the data contributors. (For example, the LDS Church limits the use of its data to certain types of biomedical research, and each data contributor has his or her own specific guidelines.)
The database was developed for research purposes beginning in about 1975. It has changed dramatically over time and has been managed by various entities. Since 1994 the UPDB has been supervised by Geri Mineau PhD’80, a U research professor in oncological sciences and an HCI investigator.
“The value-added part of the UPDB is that it resolves all of the data and creates a new record—the best version of all of the information—for each person,” notes Mineau. “After all, in the end, researchers want to study people, not records.”
Ken Smith, U professor of family and consumer studies and an HCI investigator, has used the UPDB for several ongoing health-related studies. Smith emphasizes the importance of the database to researchers; for example, in the past, before information from the UPDB was used, researchers studying the hypothesized link between fertility and longevity conducted studies using samples of nuns and members of aristocracies, groups hardly representative of larger human populations.
“The UPDB contains information on Utah families dating back seven, even 10 generations, to the late 1700s. No other place in the United States has these rich genealogies,” asserts Mineau, who is also the director of population sciences at Huntsman Cancer Institute. Somewhat similar databases are found in Quebec and Iceland, although the latter has drawn much public criticism regarding the ethics of its design and use.
Says HCI staff member Vickie Venne, who has been a genetic counselor for 25 years, “The UPDB is about people—and yet the power of it is that the people are not identified to the researchers. Because UPDB handles confidentiality so carefully, they are able to add data points to the information, making it an even more valuable infrastructure to researchers. So any person who is being tested for BRCA1, BRCA2, or FAP, a familial form of colon cancer, is benefiting from UPDB because those genes, and many others, were discovered specifically because of the UPDB resource.”
Last January, Gov. Mike Leavitt announced the creation of a new nonprofit
research enterprise, GenData Research Corp. (GenData), jointly sponsored
and funded by the University of Utah, the Huntsman Cancer Foundation,
and the State of Utah. While plans for the company are still in the early
stages, GenData will support UPDB-related research and services for industry
partners, such as pharmaceuticals and biotechnology companies, under current
UPDB privacy and ethical guidelines. A high priority for current resources,
as well as future funds generated by GenData, will be to support medical
Jean Wylie MS’02 is director of the Utah Resource for Genetic and Epidemiologic Research (RGE), the administrative organization that oversees the UPDB. Wylie argues that some databases promote research but don’t adequately protect privacy, while other models so tightly guard privacy, the research suffers.
“They are two extremes. We think there is a more balanced approach, and that is what we have done with the UPDB.”
UPDB data managers answer concerns regarding privacy and the usage of private information by citing 25 years of experience in ethically managing confidential data. Controls on accessing UPDB information include the complex and protective nature of the database’s design, the separation of files, password-protected computers, firewalls, and backups of all information managed by the Pedigree and Population Resource (PPR) at HCI. Further controls include strict policies and procedures on access to UPDB, even stricter policies on access to information that would identify people, and confidentiality agreements, which are managed by the RGE.
Before UPDB data is ever used, proposed research projects must go through several rigorous review processes. Access to the UPDB is project-specific, very customized, and granted on a case-by-case basis through the RGE Review Committee and the U’s Institutional Review Board (IRB). If ongoing, projects must be renewed annually.
Wylie, who is also the U’s Research Conflict of Interest officer, reports that currently there are 45 research projects, some of which span 15 or 20 years, using UPDB information. “All UPDB research falls basically into two categories: statistical analyses and studies involving individuals. When researchers are studying statistics, no personal identifying information is given. Participants are uniquely identified by random numbers only.”
The IRB checks research projects’ compliance with federal requirements and scrutinizes the appropriate use of human subjects. This includes provisions on how potential research subjects may be identified, contacted, and invited into research studies. The IRB only approves studies in which the risks to subjects are outweighed by the benefits of the study to them and/or to society in general.
It’s the long-term benefits that Smith is interested in as he pursues his longevity studies using UPDB resources.
“Even if we were to cure all of the major diseases—cancer, heart disease, cerebrovascular disease, and diabetes, we would still not be immortal,” says Smith. “We are interested in that fundamental something, our so-called senescence, that’s above and beyond a specific disease process but that may affect the risk of many diseases. The virtue of the UPDB is that we are able to look at information on the life spans of so many people and families across generations, which can tell us a great deal about why some families or some members of some families seem to age more slowly and live longer.”
UPDB records from the 1800s have been especially helpful to Smith, as the database contains records of a large human population where natural fertility conditions (i.e., no contraception) were present. Based on past research, Smith and other researchers find that life span after age 50, for women, is linked to late-life childbirth. “During this era, we show that age of last birth affects how long a woman lives. We like to say, ‘Breed old and die late.’”
In the near future, Smith will be enrolling long-lived individuals and their children who descend from long-lived families. “We want to better understand how environmental and genetic factors allow them to get to these old ages,” Smith says. “Is it their mental outlook? Low cholesterol? Social factors? Or genes that promote longevity?”
—Ann Jardine Bardsley BA’84 is a writer in the U’s public relations office.