Quest, Genomic Vision extend SMA screening R&D program

Genomic Vision's molecular combing platform (Genomic Vision)

Quest Diagnostics has extended its long-standing relationship with Genomic Vision. The change sets the collaborators up to forge ahead with efforts to improve the sensitivity of spinal muscular atrophy (SMA) screening tests.

Secaucus, New Jersey-based Quest began working with Genomic Vision in 2011 to access molecular combing genomic analysis technology. The partners went on to extend the relationship in 2013 and 2015. They have now returned to the deal table once again to hash out an agreement that enables them to build on recent research into the application of DNA combing to SMA carrier screening.

The interest in SMA stems from a belief Genomic Vision can address a limitation of today’s tests. As it stands, tests are unable to spot when a person has two copies of the SMA-associated SMN1 gene on one chromosome and none on the other. This causes false-negative screening results.


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Last year, Genomic Vision and Quest generated data suggesting the former’s DNA molecular combing technique—which enables the visualization of DNA at the molecular level—can tell 2+0 carriers from noncarriers. That led to a commitment to step up work on the SMA test and extend the alliance.  

“DNA combing can enable detection of clinically relevant genomic changes which not all current technologies can observe. We look forward to exploring the potential for new biomarker discovery and test services using the innovative DNA combing technique to advance SMA screening for couples and their children,” Quest CMO Jay Wohlgemuth, M.D., said in a statement.

The extension furthers an important relationship for Genomic Vision. Last year, 17% of the French medtech company’s revenues were derived from its R&D collaboration with Quest. 

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