A program offered through a partnership between Invitae Corporation and Biogen offers free genetic testing to infants, children and others with clinically diagnosed spinal muscular atrophy (SMA) or suspected of having the disease.
The program, SMA Identified, aims to increase access to genetic testing for the SMA community, so that diagnosis can be confirmed early in the disease process and patients or their caregivers/parents discuss treatment opinions with healthcare professionals.
“We know that (…) an early diagnosis could lead to earlier intervention and better medical outcomes for patients with SMA,” Robert Nussbaum, MD, chief medical officer of Invitae, said in a press release.
SMA is caused by insufficient survival motor neuron (SMN) protein in motor nerve cells.
The survival motor neuron 1 (SMN1) gene is the primary producer of SMN protein, which is essential for the survival of motor neurons. People with SMA either lack the SMN1 gene or have mutations that render it ineffective and rely on a closely related gene, called SMN2, which has the ability to produce a functional SMN protein. Generally, the more SMN2 gene copies a person has, the less severe is the disease.
SMA Identified works by detecting SMN1 whole-gene deletions and sequence variants and by quantifying SMN2 copy number.
The genetic test could be used to confirm a suspected or clinical diagnosis of SMA, to determine the number of SMN2 copies in a person with an established SMA diagnosis, to check for the disease in people with a family history of SMA, and to test first-degree relatives of people diagnosed with SMA via genetic testing.
The program is open to anyone eligible for it in the United States and Puerto Rico, upon a request made by a qualified healthcare provider.
Biogen, which produces Spinraza, the first and only approved treatment for SMA — and approved for all types — is providing financial support to SMA Identified, but will not receive any information on SMA patients identified through it, the release states.
In February, the Advisory Committee on Heritable Disorders in Newborns and Children recommended newborn screening for SMA in every state.
Arthur Burghes, a professor at Ohio State University, also called for newborn screening for SMA in a keynote lecture at the start of this year’s International Scientific Congress on Spinal Muscular Atrophy in Kraków, Poland.