When one man learned his father had Parkinson’s disease, he contacted scientists at Northwestern’s NUgene Project, hoping to find out his hereditary risk for the degenerative disorder.
“While we may not be able to tell him specifically what (his father’s diagnosis) means to him, the kind of research we tend to conduct may help his children or other people to know more about a condition like Parkinson’s disease,” said Maureen Smith, clinical director of NUgene, a long-term genetic research study.
This case is typical of a volunteer who has a genetic link to a debilitating disease. But others who have been approached may hesitate in donating their DNA for research purposes, Smith said. As a result, the project hasn’t been able to build its blood sample collection for NU researchers as initially planned.
Launched in 2002 by the Center for Genetic Medicine, part of the Feinberg School of Medicine, NUgene had set a five-year goal of gathering 100,000 blood samples from volunteer patients within the NU health care system, said project director Wendy Wolf, Feinberg ’00. But the program has only collected 8,000 collected samples, 2,000 of which have been given out for studies.
“A lot of people have concerns about electronic medical records or any kind of electronic data that is stored about them,” Smith said. “Everybody is worried about identity theft.”
Some people may fear insurance policies will cost more if companies find out about an increased risk for certain diseases, she said.
To ensure patient confidentiality, the project stores volunteers’ medical records in a secure database and provides “de-identified” DNA information from the blood samples to scientists, who examine how well drugs work and causes of common diseases, Smith said. Names and other personal identifiers are never associated with the samples, she added.
Both Smith and NU bioethics Prof. Mark Sheldon said the public may be confused about the actual nature and intent of genetic research.
“Science education in the U.S. is so poor that many in the public, with their inadequate understanding, are very distrustful of anything that science does,” Sheldon wrote in an e-mail.
NUgene’s community advisory committee works to connect the public with the scientist. These “efforts to be open and to engage public education” may help alleviate some ethical concerns with the project, Sheldon wrote.
Despite the slow pace in establishing its own collection, the project is finding ways to expand its research efforts. It received a $3 million grant last fall from the National Institutes of Health to participate in the eMERGE Network, said Rex Chisholm, NUgene co-founder.
The network wants to be able to identify genetic “fingerprints” that are associated with a disease, Wolf said. The genome studies aren’t as detailed as DNA sequencing, but once scientists study a large number of individuals, they can apply their knowledge on a larger scale.
“For a lot of these diseases where we’re trying to look at multiple genetic components and environmental influences, it’s hard to figure out who is at risk or who is at more risk relative to another individual,” Wolf said.
The network’s resources have allowed scientists to take their research to a new level, said Chisholm, who cited Type 2 diabetes and asthma as the project’s current focuses.
“We’re starting to think about how we can take our collection and use it with collections at other major medical centers to more thoroughly examine a variety of different diseases,” Chisholm said.
NU researchers who use the NUgene resources may test about 100 samples from people linked to a disease.
Along with these, they look another 200 samples from people without the disease, known as the control group, Wolf said. Larger projects using samples from the eMERGE Network may request about 1,000 cases and 1,000 controls at minimum.
But researchers aren’t sure yet if electronic medical record data can be applied to such large-scale genetic research. The network seeks to discover whether diagnoses can someday become automated, efficient and cheaper, said Dr. Eric Larson, executive director of the Center for Health Studies at the Group Health Cooperative in Seattle.
“The goal is eventually (to develop) research that leads to personalized medicine, as opposed to now, when we treat 1,000 people the same way to benefit 100,” Larson said.
Smith, along with her NUgene colleagues, said she hopes the promise of this research will help persuade more patients to participate in the project.
“People want to help,” she said. “They want to understand what’s going on in themselves and help their family members have better health.”
