CIRCULOGENE testing rapidly matches young patient with targeted therapy for rare non-small-cell lung cancer genetic variation.

An oncologist referred a blood sample on his 44-year-old female non-small cell lung cancer (NSCLC) patient to CIRCULOGENE for its personalized cancer testing expertise.  In just six days, CIRCULOGENE matched the patient’s specific cancer to a potential therapy and identified multiple clinical trial opportunities.

Using a single tube of blood, the physician ordered a personalized #gene profile from CIRCULOGENE to test for circulating genetic mutations and tumor biomarkers, including:

  • DNA Mutations
  • RNA Fusions
  • PD-L1 Expression
  • MSI (microsatellite instability)


CIRCULOGENE detected a RARE ROS1 fusion and MSI-H positivity. The targeted therapy for the ROS1 Fusion genetic variation is crizotinib, used in the treatment of NSCLC that has spread to other parts of the body. Treatment with crizotinib was initiated immediately.

Clinical Benefit:

“ROS1 is very rare, but for this young patient and her oncologist, CIRCULOGENE liquid biopsy testing quickly returned a personalized lung cancer profile with actionable results. This enabled the immediate initiation of targeted therapy and identification of a second-line therapy, pembrolizumab, matched to the patient based on the MSI-H defect.” – Chen Yeh, Chief Scientific Officer