NEW YORK (GenomeWeb) – Invitae today announced a partnership with Biogen to offer free genetic testing to patients suspected of having spinal muscular atrophy or who are clinically diagnosed with the neuromuscular disease.
The aim of the program, called SMA Identified, is to reduce diagnostic barriers and ease patients' access to genetic information that could help diagnose the disease or confirm a clinical diagnosis. SMA results in a degeneration of spinal cord neurons, atrophy of the skeletal muscles, and weakness in the limbs.
"We know that genetic testing has the ability to accelerate the diagnostic process, and an early diagnosis could lead to earlier intervention and better medical outcomes for patients with SMA," said Invitae CMO Robert Nussbaum in a statement.
Patients with SMA have an SMN1 gene that cannot produce sufficient survival motor neuron proteins and must rely on the related SMN2 gene. The number of SMN2 copies can be associated with disease severity.
Invitae's test will gauge SMN1 variants, deletion of the entire gene, and quantify copy number variations in the SMN2 gene. Detection of SMN1 gene deletions and SMN2 copy number changes can inform prognosis, and genetic tests provide important information for starting treatment.
The program is open to anyone in the US and in Puerto Rico who is suspected of having SMA, diagnosed with SMA but doesn't know their SMN2 copy number, is undiagnosed but has a family history of the disease, or has a first degree relative diagnosed via genetic testing.