Researchers from the US proposed a new newborn screening approach that could help detect Duchenne muscular dystrophy (DMD) at birth with minimal false-negative and false-positive results.

The proposed algorithm uses a 2-tiered approach where a creatine kinase assay is coupled with rapid targeted next-generation sequencing (tNGS) for the dystrophin gene using whole-exome sequencing assay. This allows the detection of point mutations as well as large deletions or duplications.

“This tiered newborn screening approach allows for the opportunity to improve treatment and outcomes, avoid the diagnostic delays, and diminish healthcare disparities,” the authors wrote in a study published in the International Journal of Neonatal Screening.


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The team led by Arindam Bhattacharjee MSc, PhD, executive director at Neuberg Diagnostics already screened more than 1500 newborns using this approach and reflexed DMD tNGS in 29 babies. 

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“We expect the experience from this screening effort will serve as a model that will allow further expansion to other hospital systems until a universal public health screening is established,” the researchers wrote.

There is currently no cure for DMD but there are a number of therapies available, which have been approved by the US Food and Drug Administration (FDA) that can change the course of the disease. The earlier these therapies are implemented, the more effective they are.

Even though a test has been available since 1975 to detect the disease, DMD is not part of newborn screening programs. A diagnosis is usually not reached until a patient is aged between 3 and 6 years, by which point irreversible muscle damage has already occurred.

Reference

Parad RB, Sheldon Y, Bhattacharjee A. Implementation of hospital-based supplemental Duchenne muscular dystrophy newborn screening (sDMDNBS): a pathway to broadening adoption. Int J Neonatal Screen. 2021;7(4):77. doi:10.3390/ijns7040077