Genetic research will assess risk of disease

A national genetic research project at UVM laboratories is aiming to advance the ways in which doctors obtain genetic information used to assess one’s risk and treatment of disease.

The project, called National Heart, Lung and Blood Grand Opportunity Exome Sequencing Project, involves discovering genes that contribute to heart, lung and blood disorders, and sharing the research findings with scientific community in order to advance the field of medicine, according to its website.

“It’s one of the first large-scale sequencing projects that’s ever been done,” said Russell Tracy, UVM professor of pathology and member of the project’s HeartGO steering committee. Sequencing involves directly reading chromosomes in order to determine the sequences of the bases of the chromosomes, Tracy said. “Before sequencing, most genetics works that had been done were done by looking at very specific bases, or spots, on the chromosome,” Tracy said. “Sequencing looks at all the spots on the chromosomes.”

The ESP project examined 100 million spots, he said, which is a big jump in the amount of material gathered.

However, Peter Durda, a senior researcher at the laboratory for biomedical research and graduate student in the clinical and translational science program, who was in charge of quality control of samples in Tracy’s lab, said the data analysis is far from over. “The press likes to hit on a highlight, so when genome sequencing projects like this occur, and when Obama went and talked about the project and there were all of these big flashy headlines, people think we’re immediately going to have all of these medical innovations,” Durda said. “Things are more complicated than that.”

“This project did a good start, we generated a lot of information and data from sequencing, but I think there’s a lot of data that still needs to be analyzed in order to hopefully bring about a better understanding of cardiovascular disease,” he said.

With this amount of information, Tracy’s research helped identify new genes as well as variations within known genes associated with blood lipids, which determine cholesterol and those associated with heart attack risks, Tracy said. The most interesting variation discovered through this research was the variation in a gene that controls triglycerides, which are a type of fat in the blood, Tracy said.

“We published data in the New England Journal of Medicine, the most highly referenced journal in biomedicine. Every doctor in the world reads that,” Tracy said. “This at least starts affecting the way internal medicine doctors think as they assess cardiovascular risk factors in patients.”