CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy.

Area of Science:

• Genetics
• Public Health
• Molecular Diagnostics

Background:

• Spinal muscular atrophy (SMA) screening is crucial for early intervention in infants.
• Newborn screening (NBS) for SMA was added to the HHS Secretary's Recommended Uniform Screening Panel in 2018.
• The U.S. Centers for Disease Control and Prevention (CDC) initiated a multi-phase project to support SMA NBS.

Purpose of the Study:

• To develop and implement comprehensive resources for public health laboratories to support newborn screening for Spinal Muscular Atrophy (SMA).
• To ensure the accurate and widespread detection of SMA in newborns through standardized assays and quality control measures.
• To facilitate the rapid and full implementation of SMA screening across all U.S. states.

Main Methods:

• Development of a specific real-time PCR assay utilizing locked nucleic acid probes for detecting SMN1 exon 7.
• Creation of quality assurance dried blood spot materials using cell lines from SMA patients, carriers, and unaffected individuals.
• Implementation of a global proficiency testing program and an external quality control material program for SMA NBS laboratories.

Main Results:

• Successful development of a sensitive and specific real-time PCR assay for SMA detection.
• Establishment of quality assurance materials and a proficiency testing program supporting 115 NBS laboratories worldwide.
• CDC's technical assistance and training programs contributed to the full implementation of SMA screening in all 50 U.S. states by February 2024.

Conclusions:

• The CDC's phased approach successfully built essential resources and programs for SMA newborn screening.
• These initiatives have been instrumental in the nationwide adoption and effective implementation of SMA screening.
• Early detection and treatment of SMA are now more accessible to infants across the United States due to these public health efforts.