The “Genes” in Genealogy

One of the most remarkable spinoffs of the Church’s genealogy program may be its unique contribution to medical research.

Using the four-generation file in the Genealogical Library, researchers at the University of Utah Medical Center, the Utah Cancer Registry, and the Bureau of Chronic Disease Control of the Utah State Division of Health are identifying and tracking down high-risk families in which diseases are genetically linked.

This kind of research is being done only in Utah because a large number of diligent members of the Church have already taken the first step for the medical researchers—charting the family tree. Thus, the researchers can concentrate on collecting medical information, feeding it into the computer for analysis, and working with the high-risk families, instead of collecting the genealogical data themselves.

One of the team members, Brother Roger R. Williams, assistant professor of internal medicine at the University of Utah College of Medicine, says that medical genetics began in Utah in 1946 when a group received funding to study muscular dystrophy and cancer. Dr. Eldon Gardner, one of the researchers, studied 189 families, most of them high cancer risks. When one genetics student told him of several aunts who had had breast cancer, Dr. Gardner followed up and identified forty-six additional women in that family with malignant or premalignant tumors.

In another family, Dr. Gardner and his medical associates identified a genetic condition that caused a cluster of problems ranging from cancers of the colon to abnormalities in teeth and scar tissue.

In the early 1970s, a planning committee at the University Medical Center invited Dr. Mark Skolnick, a population geneticist, to investigate doing genetic research in Utah. Dr. Skolnick was attracted to the family-oriented community of Salt Lake and was tremendously impressed by the genealogical information available. He was also impressed with the sophisticated computer technology, developed by Dr. Homer Warner and his staff at the University of Utah and the LDS Hospital and used to collect medical data.

Funding from the National Institutes of Health has made it possible to computerize the four-generation file and link it to the already computerized Utah Cancer Registry and to a computer file of death certificates from the Utah State Health Division.

Given only the name and year of birth, the computer can locate one individual out of a file of 750,000 in 1/30th of a second and then locate all other family members in ascending or descending pedigrees, as long as their records have been entered into the master file. Then the researchers use a computer to link the pedigrees with medical data to find and evaluate disease clusters in families. Current computer analyses involve 29,747 cancer cases and 41,187 heart attacks.

A smaller number of individuals—members of high risk families—are referred by their private physicians for detailed clinical screening.

“When a high-risk family is identified,” Dr. Williams explains, “we ask them to fill out specially prepared questionnaires and undergo examinations to see if their health is endangered. In the case of families with a high risk of heart attacks, we can teach them to change their diets, exercise more, and sometimes take drugs designed to lower cholesterol. In some cases this intervention might need to begin in childhood, well before the first symptoms of the disease.”

The diseases now being studied include cancer found in all major sites, heart attacks, strokes, high blood pressure, and other diseases of the blood, kidneys, and cardiovascular system.

Much of the research is still in the beginning stages. So far, the computer analysis is limited to residents of Utah, but it has the potential, when expanded, to improve health conditions for other Latter-day Saints who submit accurate four-generation group sheets to the Church.

It even has the potential to repay the favor by helping with genealogical research. A process called “probability matching” suggests links in pedigrees where information is incomplete. For instance, a death certificate that contains a person’s name and death date and the parents’ names may help link that person to an existing pedigree containing the parents, even though their birthdates are missing. The computer can make a “search” for parents by checking all couples with the same names to see which were most likely to be the parents of that child. In this way, the computer can perform a search in seconds that would have taken a trained genealogist months or even years.

What kinds of problems have they run into? Dr. Williams Smiles: “What you’d expect—inaccurate pedigree charts. But the advantages are tremendous. Because of the large families that Mormons typically have, we can more accurately find the expression of genes predisposing to a disease. Another advantage is something that some of my non-Mormon colleagues particularly noticed—family organizations. Latter-day Saint families can work in prevention programs because they know who their relatives are and they are concerned about the health of the whole family. The high level of education among Latter-day Saints and the kind of cooperation that the researchers have received are other pluses. In short, those of us involved with this project are truly proud of Church members because of the unique contribution that they can make to this area of health research.

“We also hope that our computer methods will prove useful to the Lord’s work as we share our findings with the Genealogical Department of the Church.”

Illustrated by Norman Price