Genetic experts praise Utah database

It's unlikely that Utahns diligently filling out genealogical forms were thinking of how their pedigree charts and family group sheets were related to colon cancer or breast cancer or a host of other ills. But those records, annually merged with current state birth and death and marriage certificate information, can be combined with family medical histories, blood samples and other biologic information to form a powerful tool in biomedical research.

The Utah Population Database just turned 30. Tuesday, top genetic researchers from around the world were at the Huntsman Cancer Institute for a daylong symposium focusing on what experts call a "unique research tool" and how it can be used to further understanding of diseases.

"We are at a remarkable moment in history, with an ability to understand the environmental and genetic causes" of many diseases including some cancers, said Dr. Francis Collins, director of the National Human Genome Research Institute at the National Institutes of Health. He leads the U.S. government's role in the international effort to map and sequence the human genome.

Now that "we understand how DNA is sequenced and mapped," he said, researchers are looking for ways to apply the knowledge. The goal is to identify hereditary factors in obesity, heart disease, high cholesterol and other diseases, which affect millions, he said.

Researchers from genetics, epidemiology, population studies and diverse areas of medicine use the Utah database, which contains records from 6.4 million individuals, to "conduct studies that would be difficult or impossible to do elsewhere," said Geraldine Mineau, director of population sciences at the institute and a research professor in the Department of Oncological Sciences at the University of Utah, which administers the database.

Those researchers use the information in the database to study families with higher than normal incidence of various diseases, including cancer, to identify patterns of genetic inheritance and to identify specific genetic mutations, according to institute spokeswoman Linda Aagard.

Researchers hope the result will include treatments and cures. It has already lead to creation of some genetic tests so that relatives can learn if they have a specific gene mutation. It also has value helping family members who may have a genetic susceptibility of which they were unaware get early screening or make changes that can help prevent the diseases that impact their relatives, said Dr. Stephen Prescott, an institute investigator and CEO of LineaGen, a nonprofit research company that is promoting pairing the database and industry partners for research projects.