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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, MS, professor with the UNC Departments of Genetics & Pediatrics and member of the Carolina Center for Genome Sciences.

The study will be funded by a five-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 Department of Genetics and member of UNC Lineberger Comprehensive Cancer Center will administer the grant.

“Genomic sequencing has potential to diagnose a vast array of disorders and conditions at the very start of life,” said Alan E. Guttmacher, MD, director of NICHD. “But the ability to decipher an individual’s genetic code rapidly also brings with it a host of clinical and ethical issues, which is why it is important that this program explores the trio of technical, clinical, and ethical aspects of genomics research in the newborn period.”

The tests will examine the genomic data from a healthy group of children and a cohort of children with suspected or diagnosed genetic disorders such as phenylketonuria, cystic fibrosis and other disorders involving metabolism. The ultimate goal, according to Dr. Berg, is to determine whether genomic testing can be an effective tool for pediatricians to incorporate alongside existing tests.

“If you could expand what can be screened for, you could actually potentially look at a lot of disorders that we would not be able to pick up with current technology metabolite screens,” said Dr. Berg.

The need to make sure that parents and physicians have the tools to make an informed decision is a central focus of the study. By developing best practices – from educational tools to parental consent protocols – the researchers plan to build a model for making informed choices about when to test and how to use the data gathered from newborn testing.

“The informed consent process will be a critical part of the study,” said Dr. Powell.

The study is funded by National Institute of Health grant (1U19HD077671-01).