Newborn screening is designed for pre-symptomatic identification of conditions for which there are effective treatments that must begin early. Although the U.S. has a successful state-based newborn screening program that screens most of the nearly 4 million U.S. babies born annually, it is important to continue investigating, supporting, and improving newborn screening systems and their impact on babies and families.
To address these needs, we have built an interdisciplinary team to advance newborn screening science and practice through research, implementation, and evaluation. We collaborate with experts and community stakeholders to gain consensus around newborn screening data standards, and we conduct formative and summative evaluations of projects focused on genetic conditions identified through newborn screening.
Our team developed Early Check, a research program that will offer voluntary newborn screening for a panel of new conditions to the parents of all babies born in North Carolina. Early Check:
- Provides a choice for parents who want to know about other conditions
- Establishes a research resource to study early development of infants with rare conditions before symptoms occur
- Develops a registry of families and children who could be invited to participate in clinical trials
- Provides the evidence base necessary to determine whether conditions should be added to the Recommended Uniform Screening Panel.
With funding from the Centers for Disease Control and Prevention (CDC) and the National Institute of Child Health and Human Development, we have conducted 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 have included severe combined immunodeficiency (SCID), mucopolysaccharidosis type I (MPS I), and X-linked adrenoleukodystrophy (X-ALD). 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.