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Newborn Screening, Ethics, and Disability Studies

Improving the health of babies and children with disabilities through research

When children miss developmental milestones or begin to show health problems, such as seizures or muscle weakness, parents and health care professionals work together to find the cause. Sometimes a diagnosis is easy, but for many disorders—especially rare ones—it can take months or even years.

Newborn screening is a way to identify children with certain disorders early, but before a given screening becomes routine it must show strong evidence of benefit. New screening methods and targeted treatment options sometimes evoke complicated ethical questions about reporting health information and the role of parents in making decisions. And for children with disabilities and their families, effective intervention and support programs are needed.

These and related challenges are the focus of the RTI Center for Newborn Screening, Ethics, and Disability Studies—which brings together a multidisciplinary team of experts in special education, psychology, medicine, chemistry, genetic counseling, and public health. We also collaborate with other experts across RTI, including our communication science researchers. The center also has strong collaborations with 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.

With funding from U.S. federal agencies and other sources, the center conducts research, implements pilot studies, evaluates programs, and provides technical assistance—all to support evidence-based strategies that inform policy and health care practice. 

Our experts lead and support studies spanning key issues in newborn screening and early childhood development.

Helping North Carolina Implement Screening for New Conditions

With funding from the Centers for Disease Control and Prevention (CDC) and the National Institute of Child Health and Human Development, we are conducting pilot studies in partnership with the State of North Carolina. These studies aim to help implement screening for new conditions recently added to the Recommended Uniform Screening Panel (RUSP), a federally recommended list of core conditions that should be included in newborn screening.

Our pilot studies focus on severe combined immunodeficiency (SCID), mucopolysaccharidosis type I (MPS I), and X-linked adrenoleukodystrophy.  These are rare, life-threatening conditions that affect about 1 in every 20,000 to 100,000 children in the United States. Because most state labs have never screened for these disorders, we are conducting pilot studies to validate testing procedures and demonstrate effective processes, so that other states can learn from our experience.

Exploring the Implications for Parents of Whole Genome Sequencing

In partnership with the University of North Carolina at Chapel Hill, we are studying the potential implications of whole genome sequencing for newborn screening. Currently, newborn screening uses specific laboratory methods to look for specific disorders.

If whole genome sequencing were included in newborn screening panels, health care professionals may learn more than parents want to know. As part of our research, we are developing a decision aid to help parents assess their interest in gene sequencing and define the information they would like to receive.

Developing a Voluntary Screening Panel and Consent Model

Despite interest from families and patient advocates, not every condition meets federal guidelines for recommended screening, and the process of adding new conditions tends to move slowly. Working with partners in North Carolina, we are developing Early Check, a voluntary screening panel that would allow parents to choose additional screening for their baby beyond the standard newborn screening panel.

Early Check would bridge the gap between today’s regular testing and other tests often unavailable to the public, providing the first-ever opportunity to test the benefits of providing treatments and services for selected disorders before symptoms appear. A major objective of Early Check is to develop models for statewide outreach and ethical consenting for the 120,000 birthing families in North Carolina each year.

Studying the Impact of Disability on Children and Families

Our investigators conduct descriptive and longitudinal research on children with disabilities, study the impact of disability on families, and work to identify effective programs and services. The scientific leaders of the RTI Center for Newborn Screening, Ethics, and Disability Studies are especially well-known for their research on fragile X syndrome, the most common inherited form of disability. 

Other studies focus on autism, Angelman syndrome, and Duchenne muscular dystrophy. And in 2016, our experts launched in partnership with collaborators in Brazil to study the consequences of congenital Zika syndrome on children and families.

Supporting Clinical and Translational Science Partnerships

The pathway from basic science discoveries to benefits for individuals affected by a disease can take years.  The RTI Center for Newborn Screening, Ethics, and Disability Studies leads a formal partnership with the Clinical and Translational Science Institute (CTSI) at UNC-Chapel Hill and supports additional collaborations with similar institutes at Duke University and Wake Forest Baptist Medical School.

Together, we are working to advance translational science and support collaborative research between our investigators and faculty at our partner institutions.