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As the clinical use of genomic testing expands, the practical and ethical considerations of using the technology to screen newborns for genetic conditions will be the focus of a new study undertaken at the University of North Carolina.

Researchers at UNC plan to sequence the entire genome of 400 infants to determine what useful clinical data can be acquired through the tests. In conjunction with the testing, the UNC team has partnered with Research Triangle Park-based RTI International to develop educational and consent tools to determine how best to educate parents and physicians about the test and its results.

“It’s really exciting. We are celebrating the 50-year anniversary of newborn screening, and newborn screening saves lives,” said researcher Cynthia Powell, MD, professor with the UNC departments of Genetics and Pediatrics and member of the Carolina Center for Genome Sciences.

The study will be funded by a 5-year, $5 million grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health. A research team led by Dr. Powell and Jonathan Berg, MD, PhD, assistant professor in the UNC School of Medicine's Department of Genetics and member of UNC Lineberger Comprehensive Cancer Center, will administer the grant. Read more…

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