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CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy
Francis K Lee1, Christopher Greene1, Kristina Mercer1
1Newborn Screening and Molecular Biology Branch, U.S. Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
Insights
The U.S. Centers for Disease Control and Prevention (CDC) developed resources to support newborn screening (NBS) for spinal muscular atrophy (SMA). These efforts enabled nationwide SMA NBS implementation, allowing early diagnosis and treatment for infants.
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.
Abstract:
Spinal muscular atrophy (SMA) was added to the HHS Secretary's Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at the U.S. Centers for Disease Control and Prevention (CDC) have worked towards building resources for public health laboratories in four phases since 2013. In Phase 1, CDC established a real-time PCR assay, which uses a locked nucleic acid probe to attain the needed specificity, to detect SMN1 exon 7. In Phase 2, we developed quality assurance dried blood spot materials made with transduced lymphoblast cell lines established from de-identified SMA patients, carriers, and unaffected donors. In 2021, CDC implemented Phase 3, a proficiency testing program, that now supports 115 NBS labs around the world. We are currently completing Phase 4, which includes the implementation of an external SMA quality control material program. Also, during this time, CDC has provided individual technical assistance to NBS programs and bench training to NBS scientists during our annual molecular workshop. These CDC-led activities have contributed to the rapid and full implementation of SMA screening in all 50 U.S. states as of February 2024.
