Genetic Quest for Answers

Charu Kaiwar, M.D., Ph.D., dreads getting the question at social events: "What do you do for a living?"

"It's not an easy answer. It would probably be an essay," she says.

That's because Dr. Kaiwar, a research fellow, is part of a group that reviews the cases of people who have exceedingly rare or undiagnosed disorders like Karter's. Dr. Kaiwar is one of the members of the functional genomics team at Mayo Clinic's Center for Individualized Medicine. The group includes a team of experts in lab science, data crunching and genetics who are all working together to find genomic-based answers to some of the most puzzling patient questions.

This often means sifting through the literature of thousands of cases and information on thousands of genetic variants in a person's body that may — or most likely may not — be significant.

"It's so complicated," Dr. Kaiwar says. "But there's so much potential here for the future."

That quest for an answer by the staff and patients, who typically have bounced around from different specialists in other health care organizations, can become an all-consuming pursuit.

"We are usually the last resort. We could spend hours or months on it," says research fellow Filippo Pinto e Vairo, Ph.D. "If we are not doing this, it's almost impossible that the physician or genetic counselor can spend the time to do it.

"That's what motivates us. We are a team that works together with different backgrounds. We know we can share experiences and learn from each other and provide something to patients."

The team, which is reviewing about 50 cases at any given time, solves approximately 30 percent of them. And the percentage is rising.

"Many patients with an unknown genetic disorder will have spent years managing their health problems while also trying to determine what the disease actually is," says Margot A. Cousin, Ph.D., a health sciences research fellow. "To be done hunting for the answer, it provides a lot of comfort. These patients and families are finally able to move on from the constant wonder about the cause of their disease and focus on what they might now be able to predict."