FDA Approves Illumina Cancer Biomarker Test with 2 Companion Diagnostics to Rapidly Match Patients to Targeted Therapies

TruSight Oncology Comprehensive is the first US FDA-approved, distributable comprehensive genomic profiling IVD kit with pan-cancer companion diagnostic claims. The 500+ gene biomarker test advances access to localized precision oncology for patients

Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced Food and Drug Administration (FDA) approval of its in vitro diagnostic (IVD) TruSight™ Oncology (TSO) Comprehensive test and its first two companion diagnostic (CDx) indications.

This single test interrogates over 500 genes to profile a patient’s solid tumor, helping to increase the likelihood of identifying an immuno-oncology biomarker or clinically actionable biomarkers that enable targeted therapy options or clinical trial enrollment. TSO Comprehensive is FDA approved as a CDx to identify adult and pediatric patients with solid tumors who are positive for neurotrophic tyrosine receptor kinase (NTRK) gene fusions that may benefit from treatment with Bayer’s VITRAKVI® (larotrectinib). The test is also approved to identify adult patients with locally advanced or metastatic rearranged during transfection (RET) fusion-positive non-small-cell lung cancer (NSCLC) that may benefit from treatment with Lilly’s RETEVMO® (selpercatinib).

“FDA approval for TruSight Oncology Comprehensive with accompanying companion diagnostics marks an awaited milestone for our oncology customers and community,” said Everett Cunningham, chief commercial officer of Illumina. “We are committed to partnering with industry leaders like Bayer and Lilly to advance cancer diagnostics and help broaden access to precision oncology for more patients.”

A CDx test may identify whether a patient’s tumor has a specific gene change or biomarker that can be targeted by a therapy, helping to determine if a patient should receive the therapy. Most CDx tests are specific to one type of cancer, but TSO Comprehensive is approved for use across solid tumor indications for the NTRK CDx, helping to maximize the chances of finding actionable information from each patient’s biopsy.

NTRK gene fusions are rare across most solid cancer tumor types (~0.1%–0.3%), and can be challenging to detect, given that these genes can fuse with different partners, many of which were previously unknown. TSO Comprehensive also interrogates RNA and thus can identify a broad range of known and novel gene fusion partners across all three NTRK gene fusions, NTRK1, NTRK2, and NTRK3. Bayer’s VITRAKVI (larotrectinib) is a highly selective TRK inhibitor approved for use in patients with TRK fusion cancer, in accordance with therapeutic labeling.

NSCLC is one of the most common types of lung cancer and the leading cause of cancer-related deaths globally. The expansive actionable biomarker landscape in NSCLC has driven the need for broad molecular profiling to enable a complete view of a patient’s disease to better guide clinical management. The oncogenic activation of RET fusion-positive NSCLC by gene fusions is a primary driver in NSCLC, occurring in up to 2% of cases. Lilly’s RETEVMO (selpercatinib) is a highly selective and potent RET kinase inhibitor in locally advanced or metastatic NSCLC. TSO Comprehensive enables broad characterization and simultaneous detection of multiple prognostic and predictive biomarkers such as RET, genomic signatures such as tumor mutational burden, and emerging biomarkers within NSCLC in a single test.

“Through research conducted globally, there is a significant body of evidence demonstrating the clinical utility of comprehensive genomic profiling for patients with advanced cancer,” said Vivek Subbiah, MD, chief, Early-Phase Drug Development at Sarah Cannon Research Institute. “Illumina’s newest distributable IVD kit for comprehensive genomic profiling and accompanying CDx enable another valuable clinical tool for the oncology community to match patients with targeted therapies that can vastly improve their journey and outcomes.”

TSO Comprehensive will begin shipping to customers this year. Comprehensive genomic profiling assays with CDx claims for solid tumors, like TSO Comprehensive, are reimbursable under a Centers for Medicare & Medicaid Service national coverage determination.

Illumina has a growing pipeline of CDx claims under development through partnerships with pharmaceutical companies, which will be added to TSO Comprehensive following appropriate regulatory approvals. These CDx claims will help unlock groundbreaking targeted therapies and immunotherapies to make a difference in the lives of patients with cancer.

A separate CE-marked version of TSO Comprehensive is already available in Europe, launched in 2022. To learn more about TruSight Oncology Comprehensive, click here.

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