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Genomic Vision, Quest Extend Spinal Muscular Atrophy Collaboration

New York (GenomeWeb)  GenomicVision announced today that it has extended its collaboration and commercialization agreement with Quest Diagnostics for the development of new biomarkers to improve the genetic detection of spinal muscular atrophy.

The companies are accelerating the pace of their collaboration with the goal of detecting SMA "2+0" carrier status. Identification of this rare form of mutation would lead to greater sensitivity in SMA screening, according to Genomic Vision.

Genomic Vision and Quest first announced collaboration plans in 2011. Through that multi-year deal, Genomic Vision granted Quest exclusive rights to develop and offer clinical and research-use laboratory testing services with its molecular combing technique in the US, India, and Mexico. Genomic Vision retained rights to market new testing services resulting from the collaboration in Europe (excluding the UK), the Middle East, and Africa. The companies also agreed to develop tests for cancer and neurological disorders with Quest providing testing services.

Molecular combing, also called DNA combing, involves stretching coils of DNA into straight chains to enable direct, high-resolution analysis of targeted areas of the human genome. The method, developed at the Pasteur Institute, can detect large-scale gene rearrangements in a range of 1,000 to more than 1 million base pairs in length.

The just-announced agreement extension follows a presentation at the American Society of Human Genetics in 2016 that showed the relevance of molecular combing for the structural analysis of SMA's complex genomic region. Quest would independently develop, validate, and offer any new lab test based on this research.

"DNA combing can enable detection of clinically relevant genomic changes which not all current technologies can observe," Jay Wohlgemuth, senior vice president and chief medical officer of Quest Diagnostics, said in a statement.

SMA, which results in progressive muscle weakness and paralysis due to a loss of motor neuron in the spinal cord, is often fatal during childhood. It is caused by a defect of the SMN1 gene in both of the patient's copies of chromosome 5.

Because of a highly complex genomic organization of the SMN locus, undetectable by many current diagnostics techniques, the screening test for couples at risk for conceiving a child with SMA may produce false-negative results. In addition, 30 percent of healthy carriers in the US African-American population cannot be detected using traditional molecular biology techniques.

"We are very proud of the results already obtained in the characterization of the SMA genomic region," Stephane Altaba, executive vice president corporate development for Genomic Vision, said in a statement. "This reinforced partnership aiming to enhance SMA testing could result in improved services to help patients and doctors identify SMA status."

If an improved test is launched, Genomic Vision will receive royalties from its total sales, Altaba said.