Biogen Inc. and Invitae Corporation have announced that SMA STAT, a new, rapid-turnaround genetic test for spinal muscular atrophy (SMA), will be offered at no charge to individuals in the U.S. as part of the SMA Identified program. The SMA STAT test reduces the time needed for genetic testing to help confirm a definitive diagnosis of SMA from 21 to four days, enabling individuals and physicians to plan and begin treatment earlier for what is often a life-threatening disease. Clinical studies have demonstrated that early diagnosis and treatment of SMA may prevent the development of severe symptoms, improve motor function and slow the progression of the disease.

A preliminary diagnosis of SMA is typically made through a physician assessment after an individual has developed symptoms, although a diagnosis can also be made through newborn screening. Genetic testing confirms an SMA diagnosis and provides more information that can be used to help guide treatment and care planning decisions. The SMA STAT test detects deletions in the SMN1 gene and assesses 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.

"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. 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," said Randal Richardson, M.D., neuromuscular neurologist, Gillette Children’s Specialty Healthcare, St. Paul, Minnesota. "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."

In 2018 SMA was added to the Recommended Uniform Screening Panel (RUSP), a list of disorders that the U.S. Department of Health and Human Services recommends for states to screen as part of state universal newborn screening programs. Newborn screening for SMA is not currently available in all states. While newborn screening detects the deletion of the SMN1 gene, some states have implemented testing platforms that do not assess the number of SMN2 copies necessitating additional genetic testing.

The new SMA STAT test expands the SMA Identified program, which launched in April 2018. In addition to the current SMA panel, which provides comprehensive genetic analysis, the SMA Identified program now includes the SMA STAT test and SMA carrier screening, which determines if people are genetic carriers of the disease. The SMA Identified program is open to all individuals within the U.S. with a suspected diagnosis, or family history, of SMA. Testing must be requested by a qualified, U.S.-based healthcare provider.

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