RTI International is joining with the University of North Carolina at Chapel Hill and the National Institutes of Health in a research study sequencing the entire genome of 400 infants to find a way to improve early detection of genetic disorders.
UNC is leading the study, funded by a five-year, $5 million grant from the National Institute of Child Health and Human Development and the National Human genome Research Institute, both parts of the National Institutes of Health. RTI’s contribution will be to develop educational and consent tools to determine the best way to educate parents and physicians about genomic testing and its implications. RTI will receive a portion of the federal funds.
“Genomic sequencing has potential to diagnose a vast array of disorders and conditions at the very start of life,” said Alan E. Guttmacher, M.D., director of the National Institute of Child Health and Human Development. “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.”
Newborn screening is already used to diagnose certain genetic, endocrine, and metabolic disorders, as well as hearing loss and congenital heart problems in most of the more than 4 million infants born in the United States each year. RTI researchers will develop an aid to help parents decide whether they would like genome testing for their newborn and explore how much, or how little, information they would like. After developing the aid and establishing best practices, RTI plans to turn its research into a mobile app that could be used in hospital or clinical settings.
