SMA STAT Genetic Test Offered Free in US to Enable Earlier Diagnosis

SMA STAT Genetic Test Offered Free in US to Enable Earlier Diagnosis

A new and faster genetic test for spinal muscular atrophy (SMA), called SMA STAT, will be offered free of charge in the U.S. as part of the SMA Identified program.

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.

José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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2 comments

  1. Kimberly Noble Piper says:

    Just a general comment for clarification:
    Newborn screening does not diagnose any conditions. It is a screening test to determine a newborn’s risk of having a condition on the screening panel. So SMA is not diagnosed through newborn screening; the screening identifies the baby’s risk of having SMA. Further diagnostic/confirmatory testing is required.

  2. Eline says:

    The claims in this article, assumably made by Inviate and not by the author himself, are misleading. It is incorrect of Invitae to imply that rapid SMN1 + SMN2 detection a new possibility, that now (for the first time) enables detecting both SMN1 and SMN2 in 4 rather than 21 days… MRC-Holland’s MLPA assay P021 SMA (which has been on the market for over 10 years) can quantify both SMN1 and SMN2 within 24 hours, and MLPA is regarded as the gold standard in MLPA testing, and has been for years. See e.g. Stupia (2012), Int J Mol Sci, or Strunk et al (2019), Int J Neonatal Screen (where MLPA is used for patient confirmation in neonatal screening and to establish SMN2). MLPA as a gold standard for SMA testing is even indicated as such when describing alternative methods (see e.g. Zhang (2018), BMC Genomics). Companies like ARUP have been offering MLPA SMA testing for a number of years (https://ltd.aruplab.com/Tests/Pub/2013436). In any case: no novelty here, and claiming that it is, feels like scoring over the back of patients…

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