Program seeks Council approval for an initiative titled “Natural History of Disorders Screenable in the Newborn Period”. State newborn screening programs screen over 4 million infants every year to identify ones at risk for 34 core and 26 secondary congenital disorders as part of the Recommended Uniform Screening Panel, known as the RUSP.
Adding new conditions to the RUSP requires an evidence-based review process by a federal advisory committee (the Advisory Committee on Heritable Disorders in Newborns and Children) that evaluates the natural history of the disorder, the robustness of the screening test, and the effectiveness of available treatments, among other considerations. However, it is difficult to get NIH funding for natural history studies to support the evidence base for conditions nominated to be added to the RUSP since these studies are often not hypothesis-driven.
Previous cycles of this initiative have funded 4 awards, one of which identified and followed-up infants with spinal muscular atrophy (SMA) to lay the framework for adding SMA to the RUSP. More conditions are likely to be nominated to the RUSP in the near future, including those with late-onset forms. With the rapid pace of developing new treatments for rare diseases that can be identified in newborns, these rare diseases would benefit from natural history studies to identify the optimal time to initiate treatment.
The goal of this initiative is to improve our understanding of the clinical aspects of disorders detectable through newborn screening by supporting natural-history studies that will help to define the sequence and timing of the onset of symptoms and complications of a disorder. In addition, these natural-history studies will inform the development of targeted, age-appropriate and disease stage-relevant treatments for individuals identified through newborn screening for conditions that currently are or may become part of the RUSP.
This proposed concept aligns with the NICHD mandate to carry out, coordinate, and expand research in newborn screening as part of the Hunter Kelly Newborn Research Screening Program authorized by the Newborn Screening Saves Lives Act of 2008 (reauthorized in 2014).
This proposed concept aligns with the IDDB research priorities focusing on research on newborn screening tests and their translation into clinical care. It also addresses the Strategic Planning Research Theme #4: Identifying Sensitive Time Periods to Optimize Health Interventions.
Program Contact
Tuba Fehr
Intellectual Developmental Disabilities Branch (IDDB)
Back to Concept Review by Council.
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