According to Biogen and Invitae Corporation, SMA STAT reduces the time for a definitive SMA diagnosis — through genetic testing — from 21 to four days, thereby enabling earlier treatment to help improve motor function and slow disease progression.
“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,” Randal Richardson, MD, a neuromuscular neurologist with Gillette Children’s Specialty Healthcare, in St. Paul, Minn., said in a press release.
“Rapid genetic testing accelerates the diagnostic process. 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,” he added. “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.”
Although SMA can be diagnosed through newborn screening, a preliminary determination is typically made by a physician after an individual manifests the first symptoms. Genetic testing then confirms such diagnoses and provides information that may help guide treatment and care planning.
The SMA STAT test detects mutations in the SMN1 gene, which cause the disease, and assesses the number of copies of the SMN2 gene. Having a higher number of SMN2 copies is generally associated with less severe disease.
SMA was added to the Recommended Uniform Screening Panel for newborns in the U.S. in 2018, opening the door to infant screening at the state level. Seven states — Indiana, Minnesota, Missouri, New York, Pennsylvania, Utah, and Vermont — routinely test babies at birth for SMA. Another 16 either have passed laws requiring such screening, or are in the process of doing so.
All screening procedures detect SMN1 gene mutations, but some states do not test for the number of SMN2 copies, thereby requiring additional genetic testing.
SMA STAT expands the SMA Identified program, started in April 2018. Besides this new genetic analysis, the program includes SMA carrier screening, which tests whether a person is a genetic carrier of the disease.
SMA Identified is open to anyone in the U.S. with a suspected diagnosis, or with family history of SMA, upon request by a qualified, U.S.-based healthcare provider.
Biogen — which markets Spinraza (nusinersen), the first treatment approved for the neurodegenerative disease — funds SMA Identified, but does not receive identifiable patient information, the company notes.