• Countries around the globe are increasingly beginning to screen newborns for spinal muscular atrophy (SMA) — though countries without available SMA treatments are lagging.
• Researchers recently estimated that, as of the beginning of 2021, more than 3.6 million newborns worldwide had been screened for SMA.
• Thanks to advances in treatments, early screening of SMA may lead to better outcomes for children before they start to develop symptoms.

Doctors often perform testing for multiple illnesses, including different genetic disorders, when a child is born. Screening for spinal muscular atrophy is fairly new, but recent data shows it is quickly being adopted by various countries. This data was presented at a conference for the World Muscle Society in September.

“Our survey revealed a clear need for it and a willingness among professionals to expand it,” the researchers noted in regard to newborn screening for SMA. “While we must remain cautious, a favorable evolution could be quickly observed, with each month showing new countries starting SMA NBS (newborn screening). Many obstacles still remain and must be explored to organize and implement future NBS programs.”

When experts decide which diseases to screen for, they consider multiple factors, including whether a disease has helpful treatments. In recent years, researchers have developed more effective SMA treatments. Some of these can lead to better outcomes when children with SMA start taking them before symptoms develop. As a result, many countries are now screening newborns for SMA to identify children who could benefit from treatment.

More Than 3.6M Newborns Screened

In the new study, researchers contacted experts from 152 countries to determine how many newborns had been screened for SMA. They received 87 responses, representing data accounting for 57 percent of the newborns around the globe. The authors found that more than 3,600,000 babies had been screened as of January 1, 2021. Altogether, this led to 288 babies being diagnosed with SMA.

Newborns were more likely to be screened if they lived in a country where disease-modifying SMA treatment was available. Over the next five years, researchers predict that countries without readily available treatments will screen 8.5 percent of newborns. Countries with treatments will screen nearly 1 in 4 newborns.

Experts from many countries reported that they planned to continue SMA screening efforts, and the authors predicted that many more newborns would be screened in the coming years. However, they also noted that additional studies were needed to assess obstacles to screening and determine which screening programs worked best.

Researchers hope to use SMA screening data to determine whether treatments are cost-effective and learn more about whether treating newborns with SMA before symptoms develop could lead to a better outlook.