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 (SMN1) 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.
“We are very proud of the results already obtained in the characterization of the SMA genomic region. 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,” Stephane Altaba, executive vice president of corporate development at Genomic Vision, said in a press release.
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.
“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,” said Jay Wohlgemuth, senior vice president and chief marketing officer of Quest Diagnostics.
In March 2017, the American College of Gynaecology (ACOG) changed its screening guidelines to include a recommendation that physicians offer SMA screening tests for all women who are considering becoming pregnant or who are already pregnant. If a woman is found to be a carrier, the guidelines suggest her partner be offered screening as well. Molecular combing could help couples at risk of conceiving a child with SMA.
This technique could also help the 30 percent of healthy carriers in the African-American population in the United States whose status cannot be detected through traditional molecular biology techniques.
In July 2017, Quest Diagnostics launched a new test, QHerit, to determine carriers of genes that may cause SMA or other diseases in their future children.