Illumina secures FDA approval for comprehensive cancer test and two companion diagnostics

Illumina, Inc. (NASDAQ: ILMN), a global leader in the field of DNA sequencing and array-based technologies, has secured crucial approval from the Food and Drug Administration (FDA) for its TruSight Oncology (TSO) Comprehensive test. This approval marks a significant advancement in cancer diagnostics, as it also includes the FDA’s endorsement of two companion diagnostics (CDx) indications. The TSO Comprehensive test is engineered to analyze over 500 genes, offering a detailed profile of a patient’s solid tumor. This extensive genomic profiling aims to enhance the identification of immuno-oncology biomarkers and clinically actionable targets, which can lead to more effective targeted therapies or suitable clinical trial opportunities.

The newly approved TSO Comprehensive test serves a dual purpose: it identifies both adult and pediatric patients with solid tumors who are positive for neurotrophic tyrosine receptor kinase (NTRK) gene fusions. This identification is crucial as it determines which patients may benefit from Bayer’s VITRAKVI (larotrectinib). Furthermore, the test is also validated for detecting adult patients with locally advanced or metastatic rearranged during transfection (RET) fusion-positive non-small-cell lung cancer (NSCLC), potentially benefiting from Lilly’s RETEVMO (selpercatinib).

“The FDA’s approval of TruSight Oncology Comprehensive with its accompanying companion diagnostics represents a significant milestone for our oncology customers and the broader medical community,” stated Everett Cunningham, Chief Commercial Officer of Illumina. “Our commitment to collaborating with industry leaders such as Bayer and Lilly underscores our dedication to advancing cancer diagnostics and expanding access to precision oncology for a larger number of patients.”

Revolutionary Benefits of the TSO Comprehensive Test

The TSO Comprehensive test distinguishes itself by offering broad applicability across various solid tumor indications, unlike many traditional CDx tests that are typically restricted to a single cancer type. Its ability to identify rare NTRK gene fusions—found in approximately 0.1% to 0.3% of solid tumors—represents a major advancement. The test’s comprehensive analysis includes RNA sequencing, which enables it to detect a wide spectrum of known and novel gene fusion partners. This capability covers all three NTRK genes: NTRK1, NTRK2, and NTRK3. Bayer’s VITRAKVI, a selective TRK inhibitor, is used for treating cancers with TRK gene fusions.

For non-small-cell lung cancer (NSCLC), a leading cause of cancer-related mortality worldwide, the TSO Comprehensive test provides an expansive biomarker analysis. The test’s ability to detect RET fusion-positive NSCLC—present in up to 2% of NSCLC cases—is particularly valuable. Lilly’s RETEVMO, a potent RET kinase inhibitor, is used for treating this type of NSCLC. The TSO Comprehensive test’s broad profiling capabilities encompass various prognostic and predictive biomarkers, including RET, tumor mutational burden, and emerging biomarkers, all within a single test.

“Global research has consistently demonstrated the clinical benefits of comprehensive genomic profiling for patients with advanced cancer,” commented Dr. Vivek Subbiah, Chief of Early-Phase Drug Development at Sarah Cannon Research Institute. “Illumina’s latest IVD kit for comprehensive genomic profiling, along with its companion diagnostics, introduces a valuable new tool for the oncology field, helping to match patients with targeted therapies that can significantly enhance their treatment outcomes and overall journey.”

Looking Ahead

Illumina plans to begin shipping the TSO Comprehensive test to its customers later this year. This comprehensive genomic profiling assay, which includes CDx claims for solid tumors, will be eligible for reimbursement under the Centers for Medicare & Medicaid Services’ national coverage determination. Illumina is also actively developing additional CDx claims through partnerships with pharmaceutical companies. These future CDx claims will be integrated into the TSO Comprehensive test following appropriate regulatory approvals, paving the way for innovative targeted therapies and immunotherapies that could transform cancer treatment.