UNC study to boost genetic medicine

A federal grant will allow researchers to scrutinize DNA to try to find genetic causes for illnesses.

jprice@newsobserver.comDecember 17, 2011 

— Researchers at UNC-Chapel Hill have won a $6.4 million grant to help transform the long-promising technology for studying human genes into practical methods for helping patients.

The four-year grant is from the National Human Genome Research Institute, part of the federal government's National Institutes of Health. It will allow the UNC team to determine the sequence of key parts of the DNA of 750 patients and use the results to try to identify genetic causes for their illnesses.

The researchers also will explore some of the complex ethical, logistical and legal issues involved in handling patients' genetic information, said Dr. James P. Evans, the principal investigator for the study.

They will target patients who couldn't be diagnosed with standard techniques, and whose illness seems likely to have a genetic cause or trigger. Examples include people who have an illness common in their family and young patients with forms of diseases such as heart disease or cancer that normally are more common in older patients.

The project, which UNC calls the N.C. Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES), will study a portion of the DNA called the exome, the full set of protein coding sequences for the body.

Recent technological advances have lowered the cost of such sequencing to about $1,000 per person, said Evans, head of the Clinical Genetics Program at Lineberger Comprehensive Cancer Center and a professor of genetics at UNC's medical school.

This drop in cost has turned genetic sequencing into a reasonably priced tool with exciting potential for treating patients.

"As a scientist, I'm all about figuring out how things work and how we can better understand the universe," Evans said. "But as a doctor, I want to see it applied and see it help people, and that's what this is about."

Other goals of the project include exploring tricky issues such as how to deal with detailed information the sequencing reveals about a patient's genes that's unrelated to their illness. For example, it might show they're at high risk for Alzheimer's disease, but not all patients will want to know that, Evans said.

The researchers will study how often such "incidental information" is found during sequencing, and whether or how patients want to know.

The team also will study how to handle the massive amounts of data involved - trillions of pieces of digital information for each person - at a time when creating and protecting even the most basic version of electronic patient records is still a challenge.

The grant is among five the National Human Genome Research Institute made to different institutions to explore various aspects of using genetic information in clinical situations.

"At NHGRI, we foresee genome sequencing becoming a routine part of medical care," said Brad Ozenberger, the program director for genomic medicine. "We regularly now hear anecdotal accounts of people who have already made remarkable recoveries from illness thanks to applications of genomic medicine, especially for some types of cancer and acute diseases. These projects are exploring the best ways to widen the use of genomic medicine in an effective, responsible, respectful way."

Tight government budgets make grants ever more scarce. But these, totaling $40 million, underline the importance the NIH places on real improvements in health from the heavy investments it has made in mapping the human genome, Evans said.

The researchers hope to begin sequencing the exomes of patients in January.

In choosing patients for the project, researchers will pick not only those likely to have genetic causes for their illnesses, but also emphasize diversity by including blacks, Hispanics and Native Americans.

"We don't want the benefits of this new genomic technology available to just a select group of people," Evans said.

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