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RESEARCH TRIANGLE PARK, NC— Challenges associated with newborn health problems and diagnoses are the focus of RTI International’s new Center on Newborn Screening, Ethics and Disability Studies.
Each year in the United States, 5,000 babies are born with a serious genetic health condition. These conditions, such as cystic fibrosis, hearing loss, and heart disease, can have long-term physical, emotional, and behavioral effects.
“When children miss developmental milestones or begin to show health problems (e.g., seizures or muscle weakness), parents and professionals try to figure out what is wrong,” said of RTI Distinguished Fellow Don Bailey, Ph.D., who is leading the center. “Sometimes, a diagnosis is easy, but for many disorders, especially those that are rare, it can take months or even years to reach a diagnosis. Newborn screening is one way to identify children with certain disorders for which early but strong evidence of benefit is required.”
The center features a multidisciplinary team of professionals from special education, psychology, medicine, chemistry, genetic counseling and public health. The center has strong collaborations with RTI’s Center for Communication Science, the North Carolina State Laboratory of Public Health, Duke University, the University of North Carolina at Chapel Hill (UNC-CH) and Wake Forest Baptist Medical Center.
“New screening methods and targeted treatment options sometimes raise ethical questions about information that should be reported and the role of parents in making decisions about the return of results,” Bailey said. “For children with disabilities and their families, effective intervention and support programs are needed, as well as information and tools so that parents can make informed choices about diagnosis and treatment.”
The new center will address these and related challenges by conducting research, implementing pilot studies, evaluating programs and providing technical assistance, all to support evidence-based strategies that inform state and national policy. Through its collaboration with UNC-CH, the center also leads RTI’s partnership with the North Carolina Translational and Clinical Sciences (NC TraCS) Institute at UNC-CH. The new center also will address critical health issues for young learners that can have a dramatic impact on their educational progress.
The center will take advantage of expertise at RTI to conduct foundation and federally supported research, and seek partnerships with universities and private entities to create a bridge between the academic community and policymakers. Primary support for the center’s work currently comes from the National Institute on Child Health and Human Development, the National Center for Advancing Translational Sciences, the Centers for Disease Control and Prevention, and The John Merck Fund.
The center’s capabilities include:
- Newborn screening issues and policy
- Registry development and survey research
- Family adaptation to health and disability
- Pilot studies
- Ethics and consent
- Early intervention
The center’s signature initiative is Early Check, a research project in which families of every newborn in North Carolina will be offered the possibility of participating in a voluntary screening program for two conditions—spinal muscular atrophy and fragile X syndrome. The magnitude of this effort (120,000 birthing families per year) and the complex steps in the consenting, screening, testing and follow-up processes will require the combined efforts of all team members and partners. The goal of Early Check is to test the benefits of identifying children with these conditions before symptoms become apparent.
