New Pan-Cancer CDx Added to the TruSight Oncology Test


A new pan-cancer companion diagnostic indication has been added to the TruSight Oncology Comprehensive test, which will help identify patients who may benefit from targeted therapy with larotrectinib.

The addition of a new pan-cancer companion diagnostic (CDx) indication to the CE-marked, in vitro diagnostic test, TruSight Oncology (TSO) Comprehensive (EU), has been announced, which will help identify patients who may benefit from targeted therapy with larotrectinib (Vitrakvi) in accordance with the approved therapeutic labeling, according to a press release from Illumina, Inc.1

TSO Comprehensive (EU) is a comprehensive genomic profiling test used to assess multiple tumor genes and biomarkers and uncover the specific molecular profile of a patient's cancer. For this CDx pan-cancer indication, neurotrophic tyrosine receptor kinase (NTRK) gene fusions, including NTRK1, NTRK2 or NTRK3, are able to be identified across solid tumor types.

This first CDx claim is specific to NTRK gene fusions, a rare yet highly actionable biomarker, with the hope to be able to help patients harboring this genetic alteration with an opportunity to benefit from a genomically matched treatment, larotrectinib.

"This CDx claim, developed in partnership with Bayer, is the first of a series under development, building upon Illumina's broad portfolio of oncology partnerships with industry leaders to advance cancer diagnostics and precision medicine," stated Paula Dowdy, senior vice president and general manager of Illumina for Europe, the Middle East, and Africa, in the press release. "We continue to focus on unlocking the potential of new biomarkers to identify those most likely to benefit from precision medicines so that no patient is left behind—we don't want anyone to miss the opportunity to have their biomarker detected and gain access to a potentially life-saving therapy."

Previously in March 2022, Illumina launched the TSO test for the evaluation of multiple tumor genes in Europe. Designed to help inform precision medicine decisions for patients with cancer, both for personal care and clinical trial enrollment, the TSO test aims to assess biomarkers in a total of 517 cancer-relevant genes across nearly 30 solid tumor types by evaluating DNA, RNA, and complex genomic signatures, including microsatellite instability or tumor mutational burden.

With this comprehensive assessment, there is an eliminated need to run separate, sequential gene tests that come from multiple biopsy procedures. With this assessment also comes a short turnaround time of 4 to 5 days from the time of sample collection to clinical report generation.

Both less prevalent and more prevalent biomarkers are combined in this test through the use of a single biopsy specimen in order to maximize the chance of identifying an actionable alteration. With this, patients can easily be treated with a targeted therapy or be enrolled in a clinical trial based on their unique tumor genomic profile.

Although a majority of CDx tests tend to be specific to 1 cancer type, this NTRK claim aims to target multiple solid tumor types along with a broad range of novel gene fusion partners across NTRK1, NTRK2, and NTRK3 genes. By having a claim across multiple tumor types, it can help to maximize the chances of finding actionable information from each individual patient's biopsy and help to match them with larotrectinib treatment.

Clinical and analytical validation studies were used to evaluate the performance of TSO Comprehensive (EU) with NTRK fusions. The clinical efficacy and safety of TSO Comprehensive (EU) in detecting these NTRK fusion–positive patients eligible for treatment with larotrectinib, were demonstrated using pooled data from 3 clinical trials, including LOXO-TRK-14001 (NCT02122913), NAVIGATE (NCT02576431) and SCOUT (NCT02637687).

The primary end point of the assessment of these 3 trials was the overall response rate (ORR), defined as the patient presenting either a complete response, surgical complete response, or partial response to larotrectinib.

“Since it launched 4 years ago, Vitrakvi has demonstrated high response rates and highly durable responses in adults and children with TRK fusion cancer," said Christine Roth, member of the executive committee of Bayer's Pharmaceuticals Division and head of Bayer's Oncology Strategic Business Unit, in the press release. "The CE marking of Illumina's TSO Comprehensive (EU) assay inclusive of NTRK gene fusion detection for Vitrakvi is an important advance in enabling precision oncology for patients in Europe. Assays that enable precision oncology through comprehensive genomic testing are crucial for informing optimal treatment plans and help to ensure the best possible outcomes for cancer patients.”

  1. Illumina introduces new pan-cancer companion diagnostic to match patients with rare genetic mutations to targeted therapy. News release. Illumina, Inc. May 24, 2022. Accessed June 8, 2022.
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