The grant, spread over four years, will establish the North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing, or NCGENES. Dr. James P. Evans, a genetics professor in the UNC School of Medicine, is the principal investigator.
The grant will fund several projects. Whole exome sequencing, or WES, will be performed on 750 UNC patients who are believed to have a discrete genetic error as the cause of their disorder.
Evans said in a statement that in addition to studying the technology as a diagnostic tool, the project will also examine how genetic information can be used in non-medical as well as medical situations. For example, the sequencing could reveal risks for an untreatable disease such as dementia.
“We will investigate how such information is best handled in a way that is sensitive to patient preferences,” he said.
The UNC project is one of five clinical exploratory research projects funded by the National Human Genome Research Institute, part of the National Institutes of Health, that studies ways to bring genomic sequencing information into a clinical setting.
The federal effort is investing $40 million over the four years to support the projects. Besides the UNC project, others receiving funding are:
Baylor College of Medicine, Houston, $1.8 million per year.
Brigham and Women’s Hospital, Boston, $2.4 million per year.
Children’s Hospital of Philadelphia, Philadelphia, $2.2 million per year.
University of Washington, Seattle, $2.3 million per year.
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