Nav: Home

New RTI International Program to offer free elective genetic testing for North Carolina newborns

January 25, 2017

RESEARCH TRIANGLE PARK, NC - 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 program, called Early Check, grew from RTI's research on newborn screening, done in partnership with the North Carolina State Laboratory of Public Health, the University of North Carolina at Chapel Hill, Duke University, and Wake Forest Baptist Medical Center. All three sites are part of a national consortium of institutions that have received funding from the NIH through the Clinical and Translational Science Awards (CTSA) program.

NIH, through the National Center for Advancing Translational Sciences (NCATS), will provide $1 million per year over five years to launch Early Check statewide, 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, Ph.D., Distinguished Fellow at RTI and the project's principal investigator.

Shortly after birth, most babies in the United States 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 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, M.D., 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 an innovative project to not only improve health outcomes, but to expand our scientific knowledge about detection and new approaches to treatment," said Alex Kemper, M.D., a pediatrician who serves as the principal investigator at Duke. "This is a complex project that only works by bringing together the State Public Health Laboratory and major research institutions across North Carolina funded through the CTSA network."

The Early Check team currently plans to offer screening for spinal muscular atrophy, a significant cause of death among infants, and fragile X syndrome, the leading inherited cause of intellectual disability.

"The North Carolina State Laboratory of Public Health is excited to be advancing the science of newborn screening through our partnership with RTI," said Scott J. Zimmerman, DrPH, MPH, director of the North Carolina State Laboratory of Public Health.

Parents could also gain peace of mind from the results. If a child does have one of the conditions, the early test will prevent families from going through a long diagnostic process. But most babies will turn out to be unaffected, eliminating some of the worries of new parents.

"From a family's point of view, these tests offer pros and cons," Bailey said. "Some families may not want to know right away if their baby will face a difficult illness. Others will see advantages, including the ability to plan for early intervention services for the affected child, or to decide whether to have more children if they might also inherit a genetic condition."

Early Check also differs from the standard newborn screening panel because it is designed as a research study, Gehtland said. Researchers will follow up with the families of babies who are found to have one of the conditions, offering the chance to participate in longitudinal studies or clinical trials.

"Without early screenings, it is extremely hard to conduct clinical studies to help infants with rare conditions," Gehtland said. "This creates a barrier to developing new therapies. Early Check will fill this gap, benefitting science as well as patients."

The team also hopes Early Check will make an impact on public policy. The results could lead to changes in the standard newborn screening panel, and the program itself could serve as a model for other states.
-end-


RTI International

Related Public Health Articles:

The Lancet Public Health: Ageism linked to poorer health in older people in England
Ageism may be linked with poorer health in older people in England, according to an observational study of over 7,500 people aged over 50 published in The Lancet Public Health journal.
Study: Public transportation use linked to better public health
Promoting robust public transportation systems may come with a bonus for public health -- lower obesity rates.
Bloomberg American Health Initiative releases special public health reports supplement
With US life expectancy now on the decline for two consecutive years, the Bloomberg American Health Initiative is releasing a supplement to Public Health Reports, the scholarly journal of the US Surgeon General.
Data does the heavy lifting: Encouraging new public health approaches to promote the health benefits of muscle-strengthening exercise (MSE)
According to a new study in the American Journal of Preventive Medicine, almost 75 percent of US adults do not comply with public health guidelines recommending two or more muscle-strengthening exercise (MSE) sessions a week, with nearly 60 percent of the population doing no MSE at all.
The Lancet Public Health: Moderate carbohydrate intake may be best for health
Low-carb diets that replace carbohydrates with proteins and fats from plant sources associated with lower risk of mortality compared to those that replace carbohydrates with proteins and fat from animal sources.
Mass. public safety, public health agencies collaborate to address the opioid epidemic
A new study shows that public health and public safety agencies established local, collaborative programs in Massachusetts to connect overdose survivors and their personal networks with addiction treatment, harm reduction, and other community support services following a non-fatal overdose.
Cyber attacks can threaten public health
Gordon and Landman have authored a Perspective piece in the New England Journal of Medicine that addresses the growing threat of attacks on information systems and the potential implications on public health.
Public health guidelines aim to lower health risks of cannabis use
Canada's Lower-Risk Cannabis Use Guidelines, released today with the endorsement of key medical and public health organizations, provide 10 science-based recommendations to enable cannabis users to reduce their health risks.
Study clusters health behavior groups to broaden public health interventions
A new study led by a University of Kansas researcher has used national health statistics and identified how to cluster seven health behavior groups based on smoking status, alcohol use, physical activity, physician visits and flu vaccination are associated with mortality.
Public health experts celebrate 30 years of CDC's prevention research solutions for communities with health disparities
It has been 30 years since CDC created the Prevention Research Centers (PRC) Program, currently a network of 26 academic institutions across the US dedicated to moving new discoveries into the communities that need them.
More Public Health News and Public Health Current Events

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Rethinking Anger
Anger is universal and complex: it can be quiet, festering, justified, vengeful, and destructive. This hour, TED speakers explore the many sides of anger, why we need it, and who's allowed to feel it. Guests include psychologists Ryan Martin and Russell Kolts, writer Soraya Chemaly, former talk radio host Lisa Fritsch, and business professor Dan Moshavi.
Now Playing: Science for the People

#538 Nobels and Astrophysics
This week we start with this year's physics Nobel Prize awarded to Jim Peebles, Michel Mayor, and Didier Queloz and finish with a discussion of the Nobel Prizes as a way to award and highlight important science. Are they still relevant? When science breakthroughs are built on the backs of hundreds -- and sometimes thousands -- of people's hard work, how do you pick just three to highlight? Join host Rachelle Saunders and astrophysicist, author, and science communicator Ethan Siegel for their chat about astrophysics and Nobel Prizes.