Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018

Area of Science:

• Public Health
• Genetics and Genomics
• Pediatrics

Background:

• The Recommended Uniform Screening Panel (RUSP) guides state newborn screening (NBS) programs in the US.
• Seven new conditions were added to the RUSP between 2010 and 2022, expanding the scope of early disease detection.
• These additions reflect advancements in diagnostic capabilities and the identification of treatable genetic and congenital disorders.

Purpose of the Study:

• To analyze the timeline and pace of adoption for newly added conditions to the RUSP by state NBS programs.
• To assess the variation in implementation speed for different screening conditions.
• To provide insights into the progress of nationwide newborn screening expansion.

Main Methods:

• Data collected on the addition of seven specific conditions to the RUSP from 2010 to 2022.
• Analysis of the time required for universal adoption (all 50 states and territories) for severe combined immunodeficiency (SCID) and critical congenital heart disease (CCHD).
• Calculation of the average annual implementation rate for Pompe disease, MPS I, X-ALD, SMA, and MPS II based on the number of screening programs.

Main Results:

• Universal screening for SCID and CCHD was achieved in 8.6 and 6.8 years, respectively.
• As of December 2022, screening rates varied: 37 programs for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA.
• Spinal muscular atrophy (SMA) exhibited the most rapid implementation pace (11.3 programs/year), followed by CCHD (7.8), SCID (6.2), MPS I (5.4), Pompe (4.9), and X-ALD (4.7).

Conclusions:

• State newborn screening programs have progressively incorporated new conditions recommended by the RUSP.
• The pace of adoption for new NBS targets varies significantly, influenced by factors such as disease prevalence, diagnostic technology, and treatment availability.
• Continued monitoring of NBS implementation is crucial for ensuring timely access to early detection and intervention for newborns.