By Ron Shinkman, Editor, Laboratory Industry Report
Quest Diagnostics has teamed with the California-based testing firm Personalis to provide a whole exome sequencing product to detect rare genetic disorders among pediatric patients.
The product, known as Neurome, is being offered through the New Jersey-based Quest’s Athena Diagnostics division and is based on Personalis’ ACE Exome testing platform. It focuses on the 1 to 2 percent of the genome where most genetic defects occur.
Although as many as 8 percent of children are diagnosed with some genetic disorder before reaching adulthood, their conditions are often hard to detect using traditional single gene and gene panel testing.
According to Personalis’ own testing data, the ACE Exome platform demonstrated a diagnostic yield of 57 percent in a clinical trial involving 83 subjects, about twice as high as other whole exome sequencing platforms.
“The innovative Personalis solution will allow us to deliver on this commitment at a level of quality few whole-exome sequencing methods could match,” said Joseph J. Higgins, M.D., Quest’s medical director of neurology, in a press release. “By revealing the genetic factors responsible for a condition, Neurome will empower parents and health care providers to establish an appropriate treatment and management plan. It will help many of the mothers and fathers now groping in the dark for an answer to the cause of their child’s disorder to receive a diagnosis that is reliable and actionable.”
Terms of the deal between Quest and Personalis were not disclosed.