Newborn Screening for Spinal Muscular Atrophy

Dear Colleagues,

Spinal Muscular Atrophy (SMA) is one of the most common genetic diseases affecting infants and children. SMA was nominated for addition to the newborn screening Recommended Uniform Screening Panel (RUSP) more than 10 years ago; however, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that prospective pilot studies be conducted by public health laboratories prior to formal evidence review. SMA was added to the RUSP in 2018, following demonstration of feasibility of high-throughput screening for the homozygous SMN1 exon 7 deletion via qPCR, and availability of an FDA-approved treatment. As of July 2020, several countries worldwide and 31 states in the US have implemented newborn screening for SMA. Many programs multiplex the SMA screen with a qPCR assay for Severe Combined Immunodeficiency (SCID). Some programs also conduct SMN2 gene copy number analysis for phenotype prediction internally, but testing is typically conducted after referral. Newborn screening programs have rapidly incorporated SMA screening, and at the same time, treatment options and algorithms continue to expand and evolve.

This Special Issue on Newborn Screening for Spinal Muscular Atrophy, to be published in the International Journal of Neonatal Screening, will focus on methods, algorithms and experiences following implementation of SMA newborn screening. Topics of interest include:

• SMA newborn screening methodology and algorithms
• Outcomes in infants identified via newborn screening
• SMA incidence differences by region, SMN2 copy number, race/ethnicity
• Challenges in identifying, following and treating infants with higher SMN2 copy number

Dr. Denise M. Kay
Prof. Dr. Anne Marie Comeau
Guest Editor

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