Faster—and Free—Genetic Testing for Spinal Muscular Atrophy

  • Child neurology
  • Genetic testing
  • Neuromuscular disease
  • Spinal muscular atrophy

A new genetic test for spinal muscular atrophy (SMA) provides results in 4 days vs the 21 day wait previously needed. Early diagnosis is essential for early treatment, shown to slow disease progression, prolong survival by years, and improve or stabilize loss of motor function. Of note, the test will be offered at no charge to individuals in the US as part of the SMA Identified program sponsored by Biogen (Cambridge, MA) and Invitae (San Francisco, CA). 

The test, developed by Biogen and Invitae detects SMN1 gene deletions and quantifies copy number of the SMN2 gene, both essential pieces of information for diagnosing and treating SMA. The presence of a greater number of SMN2 copies is generally associated with less severe but still life-altering forms of the disease. 

The Identify SMA program includes not only the SMA panel, but also carrier screening and is open to all individuals within the US with a suspected diagnosis or family history of SMA. 

“Rapid genetic testing accelerates the diagnostic process,” said Randal Richardson, MD, neuromuscular neurologist, Gillette Children’s Specialty Healthcare. “Not only does it minimize the apprehension of waiting, but an even earlier diagnosis promotes earlier intervention and therefore potentially better medical outcomes for patients with SMA. Whether an infant or child is showing early signs of SMA or a long-standing patient requires genetic confirmation of the disease, every day makes a difference. This program helps further reduce the barriers to getting a genetic test early in the diagnostic process, enabling a faster transition to the important discussion about how to help patients sooner.”

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