A new program offering free elective genetic testing for newborns, developed at RTI International, will become available to North Carolina parents starting in 2018, thanks to a grant from the National Institutes of Health.
The National Institutes of Health, through the National Center for Advancing Translational Sciences (NCATS), announced earlier this year that it will provide $1 million per year over five years to launch the Early Check program (also supported by JMF) statewide in North Carolina, offering testing for one or more genetic conditions to up to 120,000 families each year. Early Check will function as a research study, helping enable research on genetic conditions and potential treatments. This project is one of seven innovation awards funded by National Center for Advancing Translational Sciences.
“We hope to offer to every baby born in North Carolina the opportunity to participate in this study,” said Don Bailey, PhD, Distinguished Fellow at RTI and the project’s principal investigator.
Shortly after birth, most babies in the US go through a series of screenings for genetic disorders. The tests help doctors act quickly to help babies with conditions that can be treated, but that might otherwise go unnoticed and could be deadly.
The panel of conditions currently included in standard newborn screening tests leaves out some diseases, such as Fragile X syndrome, that could be detected early. In some cases, tests are available, but expensive.
“The conditions left out of standard newborn screening do not have enough evidence that early treatment changes outcomes, something necessary for a public health program that is done universally,” said Lisa Gehtland, MD, a physician and public health analyst at RTI and the Project Director. Early Check researchers will provide information about whether some of these conditions are appropriate for newborn screening.
“Early Check is an exciting and innovative project to not only improve health outcomes, but to expand our scientific knowledge about detection and new approaches to treatment,” said Alex Kemper, MD, a pediatrician who serves as the principal investigator at Duke.
Read more about Early Check in its feature on the NIH’s NCATS website here.