The NICHD’s research goals related to newborn screening fall into several main categories:
- Identify, develop, and test the most promising new screening technologies.
- Increase the specificity of newborn screening.
- Expand the number of conditions for which screening tests are available.
- Develop experimental treatments and disease management strategies for additional newborn conditions, and other genetic metabolic, hormonal, and or functional conditions that can be detected through newborn screening for which treatment is not yet available.