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RESEARCH TRIANGLE PARK, N.C. – RTI will join an effort with the University of North Carolina at Chapel Hill and the National Institutes of Health to sequence the entire genome of 400 infants to determine what useful clinical data can be acquired that could be used to improve early detection of genetics disorders.
As part of the effort, researchers at RTI will develop educational and consent tools to determine how best to educate parents and physicians about genomic testing and its implications.
"Information in the hands of parents could lead to better treatment options and long-term outcomes for their child," said Don Bailey, Ph.D., distinguished fellow, early childhood development at RTI and principal investigator on RTI’s part of the research. "We want to better understand how we can appropriately use this information to improve health and prevent disease in infants and children.”
The study, led by UNC, will be 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 will receive a portion of those funds.
Now in its 50th year, 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.
“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.”
The RTI team of 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. Once the aid is developed and best practices are in place, RTI will develop a mobile technology application to use in hospital or clinical settings.
“We will use best practices from health communication to develop a tool that supports parents in making an informed decision about the genetic information available to them,” said Megan Lewis, Ph.D., Senior Scientist in RTI’s Health Communication Program and co-principal investigator on RTI’s part of the research. “As the amount and complexity of genetic information available to parents increases, giving them the power to make informed decisions becomes more critical.”
This project builds on RTI’s earlier success in creating a tool to help parents decide whether or not to screen for fragile-X syndrome.
