Author Archives: Ana de Barros PhD

Biogen and Invitae Offering Free Genetic Testing for SMA to People in US

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 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. 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.

Genomic Vision Extends Collaboration with Quest Diagnostics to Improve SMA Diagnosis

Genomic Vision and Quest Diagnostics have agreed to extend their collaboration focusing on the potential development of new biomarkers to improve genetic diagnosis of spinal muscular atrophy. The partners will accelerate the pace of their efforts to identify new biomarkers with the possibility of detecting SMA “2+0” carrier status, referring to carriers who have two survival motor neuron 1 gene copies on one chromosome and none on the other. The identification of this rare form of mutation would lead to improved sensitivity in SMA screening. This announcement follows previous research by the two companies that demonstrated evidence that this pattern could be detected by molecular combing, a user-friendly technique that allows DNA to be analyzed at the single molecule level. Although healthy parents of a child with SMA carry the SMN1 gene defect, they do not have any symptoms of the disease. A carrier with the 2+0 pattern cannot be distinguished from a noncarrier, and test results may not reliably identify this particular carrier status. Genomic Vision has pioneered a molecular combing system that could potentially detect this pattern and reliably identify carrier status. This test stretches and assembles millions of large DNA fragments in a single step. The resulting DNA is organized in discrete strands, allowing for analysis at the single molecule level. Under the new agreement, Quest will be solely responsible for developing, validating, and offering new lab tests.

Muscular Dystrophy Association to Expand Registry to Cover Seven Diseases

The Muscular Dystrophy Association (MDA) has asked the medical data services company IQVIA to expand its disease registry into a hub of information on seven neuromuscular conditions, including spinal muscular dystrophy (SMA). The repository will include disease information from care providers, genetics data, and patient-reported information. In addition to SMA, the…

SMA Survey