Illumina, Inc. announced the addition of a companion diagnostic (CDx) indication to its CE-marked in vitro diagnostic TruSight™ Oncology (TSO) Comprehensive (EU) test. This single test kit, recently launched across Europe, assesses multiple tumor genes and biomarkers to reveal the specific molecular profile of a patient's cancer. The CDx pan-cancer indication will allow identification of cancer patients with solid tumors who are positive for neurotrophic tyrosine receptor kinase (NTRK) gene fusions including NTRK1, NTRK2 or NTRK3, and may benefit from targeted therapy with Bayer's VITRAKVI® (larotrectinib), in accordance with the approved therapeutic labeling.

TSO Comprehensive (EU) is a comprehensive genomic profiling (CGP) test which combines less prevalent biomarkers with more prevalent ones in the same test, using a single biopsy specimen. This helps maximize the chances of identifying an actionable alteration so that patients can be treated with a targeted therapy or enrolled into a clinical trial based on their unique tumor genomic profile. The addition of this first CDx claim specific to NTRK gene fusions, a rare but highly actionable biomarker, helps provide patients harboring this genetic alteration with an opportunity to benefit from larotrectinib, a genomically matched treatment.

Across most solid cancer tumor types, NTRK gene fusions can have a rare prevalence of 0.1-3% and can be challenging to detect as these genes fuse with many different partners, many of them previously unknown. Most CDx tests are specific to one type of cancer, but the NTRK claim is pan-cancer, enabling TSO Comprehensive (EU) to target multiple solid tumor types and a broad range of known and novel gene fusion partners across all three NTRK genes. This helps maximize the chances of finding actionable information from each patient's biopsy, to inform treatment with larotrectinib.

The performance of TSO Comprehensive (EU) with NTRK fu­sions was assessed by analytical and clinical validation studies. Pooled data from three clinical trials, LOXO-TRK-14001 (NCT02122913), NAVIGATE (NCT02576431) and SCOUT (NCT02637687), were used to demonstrate the clinical effectiveness and safety of TSO Comprehensive (EU) in identifying NTRK1, NTRK2 and NTRK3 gene fusion positive patients who may be eligible for treatment with larotrectinib. The primary endpoint was the overall response rate (ORR), measured as the patient presenting either a complete response, a surgical complete response or partial response, to larotrectinib.

Illumina has a growing pipeline of CDx claims under development through partnerships with pharmaceutical companies, which will be added to TSO Comprehensive (EU) following appropriate regulatory approvals. These CDx claims will help unlock targeted therapies and immunotherapies to make a difference in the lives of cancer patients. As Illumina continues to expand its broad portfolio of oncology partnerships with industry leaders, the company aims to advance cancer diagnostics and precision medicine.