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Updated: Jun 24, 2026
19:15
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Developing a National Registry for conditions identifiable through newborn screening
Jeffrey R Botkin1, Rebecca Anderson, Catherine Staes
1Department of Pediatrics, Division of Medical Ethics, University of Utah, 2000 East 75 South #108, Salt Lake City, UT 84112, USA. Jeffrey.botkin@hsc.utah.edu
Summary
State newborn screening programs are expanding, but long-term outcomes for rare conditions remain unclear. A proposed registry system aims to systematically collect data to improve care for affected children and their families.
Area of Science:
- Genetics
- Pediatrics
- Public Health
Background:
- Newborn screening programs are increasingly identifying rare conditions, leading to uncertainty regarding their natural history and long-term outcomes.
- Current state programs do not systematically collect data on crucial outcome variables like genotype-phenotype correlations and developmental trajectories.
- There is a growing need for comprehensive data to inform care and support for children with conditions identified through newborn screening.
Purpose of the Study:
- To outline the rationale for developing a data collection system focused on the long-term outcomes of children identified via newborn screening.
- To propose recommendations for the design of such a comprehensive data collection system.
- To address the significant uncertainties surrounding rare conditions included in expanded newborn screening.
Main Methods:
- Recommendations were formulated through a multidisciplinary collaborative effort.
- The project was supported by funding from the Health Resources and Services Administration.
- Scholars from regional and national institutions contributed to the development process.
Main Results:
- A proposed registry system designed to collect data from multiple sources, including subspecialists, medical homes, families, and schools.
- The system leverages emerging communication technology to create an interactive, web-based platform.
- This platform aims to enhance support for families and healthcare professionals involved in the care of children with complex screened conditions.
Conclusions:
- A systematic data collection system is essential to address knowledge gaps in the long-term outcomes of rare newborn screening conditions.
- The proposed registry, utilizing diverse data inputs and interactive technology, can significantly improve care coordination and support.
- This initiative aligns with recommendations from the American Academy of Pediatrics and the Health Resources and Services Administration to enhance newborn screening follow-up.
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