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Illumina’s IVD Biomarker Test Becomes the First FDA-approved Pan-cancer Companion Diagnostics Kit
Illumina, a global leader in gene sequencing technology, won FDA approval in late August for its TruSight Oncology (TSO) Comprehensive, an in vitro diagnostic (IVD) biomarker test kit. TSO Comprehensive is the first FDA-approved distributable comprehensive genomic profiling IVD kit with pan-cancer companion diagnostic claims, which can detect variants in 517 genes across nearly 30 solid tumor types, thus enabling the identification of biomarkers in cancer patients and facilitating physicians to match patients with suitable types of targeted drugs.
The approval signifies an expansion of TSO Comprehensive’s applications globally. Coupled with the likelihood of future upgrades to the assay kit, it will not only assist oncologists in personalized and precise prescriptions, but will also provide patients with solid tumors with more targeted therapy options and opportunities to participate in clinical trials of new medications.
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Leveraging NGS Technology for Significant Improvement in Testing Performance and Speed
Launched first in Europe in March 2022 and CE-IVD certified, TSO Comprehensive works with Illumina’s NextSeq™ 550Dx sequencing instrument, allowing analysis of formalin-fixed, paraffin-embedded (FFPE) tissue biopsies from solid tumors and enabling comprehensive genomic profiling (CGP). Leveraging next-generation sequencing (NGS) technology, this IVD kit can target 517 cancer-relevant genes and detect different types of mutations, including single-nucleotide variants, multi-nucleotide variants, and sequence insertions or deletions at DNA levels, as well as fusions in 24 genes and splice variants in one gene from RNA.
In addition, the test results also provide a tumor mutational burden (TMB) score, which can help physicians predict the likelihood of response to immunotherapy for different tumors. Furthermore, the whole assay process can be completed in 4 to 5 days, significantly reduced from over 6 weeks with the existing tools, allowing physicians to seize treatment opportunities and provide timely interventions.
Pan-cancer Companion Diagnostics for Enhanced Precision Medicine for Cancer Patients
TSO Comprehensive can be used as a companion diagnostics (CDx) tool. Based on the sequencing results, physicians can monitor patients’ expression of biomarkers, and identify multiple predictive, prognostic, or clinically actionable biomarkers, allowing them to pinpoint cases that may benefit from specific targeted medications, thus realizing personalized and precision cancer medicine.
According to the current FDA approval, TSO Comprehensive can be used 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 assay kit can also be used 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).
Both of these mutations are relatively rare, for example, RET fusions occur in 1-2% of NSCLC cases, while NTRK fusions occur in 0.1%-0.3% of most solid tumor types. Besides, given the complexity and variability of these gene fusions, they are often challenging to detect by conventional assays. Fortunately, effective targeted drugs are now available for both RET fusions and NTRK fusions, and the robust detection capabilities of TSO Comprehensive will offer access to treatments for cancer patients with these rare mutations.
Illumina Partnering with Top Pharma Companies for Further Upgrades of its CDx Tool
“The FDA approval for TruSight Oncology Comprehensive with accompanying companion diagnostics marks an awaited milestone for our oncology customers and community,” said Everett Cunningham, Illumina’s Chief Commercial Officer. In fact, the FDA’s decision is the first-ever approval of an IVD test kit for use as a pan-cancer CDx tool, and TSO Comprehensive is reimbursable under a Centers for Medicare & Medicaid Service national coverage determination. In addition to Bayer and Eli Lilly, Illumina is working closely with other top pharma companies such as Bristol-Myers Squibb and Merck (known as MSD outside of the U.S. and Canada) to strengthen its pipeline of CDx tools. Such partnerships include making the assay kit available for more types of genetic variants and bringing the above-mentioned targeted drugs to more tumor indications.
In other words, given any future expansion of the FDA approval, further upgrades to the kit’s testing capabilities could be expected, allowing more cancer patients to be matched with appropriate targeted drugs or immunotherapies to improve their prognosis and quality of life.
