Press Release

Press Release

Latest Research at ESMO Congress 2022 Showcases the Impact of Comprehensive Genomic Profiling for Cancer Patients

Sep 5, 2022

Presentations will include evidence on how genomic signatures and next-generation sequencing can improve the care of patients with cancer

SAN DIEGO ─ September 5, 2022 / PRNewswire / — Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced the upcoming presentation of multiple oncology research abstracts at this year’s European Society of Medical Oncology (ESMO) annual meeting, September 9–13 in Paris. The abstracts underscore the value of next-generation sequencing (NGS) and Illumina’s oncology assays for cancer research and patient care. 

“For oncologists, the priority for each patient is to provide the best course of therapy as early as possible,” said Dr. Phil Febbo, chief medical officer of Illumina. “There is growing evidence that using comprehensive genomic profiling that includes pan-cancer and immunotherapy biomarkers can identify the greatest number of patients who most benefit from targeted therapy.”

Illumina’s mission in oncology is to help save lives by enabling personalized cancer care through genomics, working with customers in both centralized and in-house pathology labs to perform comprehensive genomic profiling (CGP) of tissue and liquid biopsies to match patients to the rapidly growing catalogue of targeted drugs and immunotherapies.

CGP is an NGS approach using a single test to assess hundreds of genes—including relevant cancer biomarkers, as established in medical guidelines and clinical trials—for tumor therapy guidance. Pathologists and oncologists are increasingly adopting CGP to enhance their abilities to identify actionable biomarkers, which can better match patients with precision therapies and clinical trials. Studies show that patients who receive a genomic match with biomarker-driven targeted therapies or immunotherapies experience improved clinical outcomes.

Abstracts accepted for ESMO Congress 2022

One way of gaining insight into the tumor genome is to identify the mutations used in the evaluation of homologous recombination deficiency (HRD). HRD status has emerged as an important biomarker in tumors that have high levels of DNA damage, such as ovarian cancer. However, to enable genomic profiling of ovarian cancer tumors with indications for PARP inhibitors and predict response to these treatments, labs must reliably assess HRD status in those tumors. Combining HRD assessment with a single, comprehensive assay, such as the TruSight™ Oncology 500 (TSO 500) HRD research assay, to assess a wide range of biomarkers provides results more quickly than iterative testing and provides a high-resolution, comprehensive view of the tumor genome. These two abstracts highlight how labs are combining CGP and HRD to offer a powerful test:

Analytical performance of a next-generation sequencing (NGS) assay kit for assessing homologous recombination deficiency (HRD) from solid tumor samples (925P): This is a poster presentation on a study completed in collaboration with Merck and Myriad Genetics. The data verifies the performance of the TSO 500, showing its high analytical sensitivity and specificity in detecting BRCA1 and BRCA2 variants (5%–10% limit of detection) and its accurate genomic instability score (GIS) for HRD status assessment in ovarian cancer. The results show high (>95%) concordance in BRCA variant calling and that the GIS were highly concordant (R = 0.98) to the reference method assay. This assay provides labs with an efficient, in-house solution using just one workflow and a limited sample size, which will aid clinical research and broaden access to clinical trials for potential precision therapies.

High concordance of different molecular assays in the determination of HRD-associated GIS in high grade epithelial ovarian cancer (572P): This abstract presents data resulting from collaboration between Illumina and the Institute of Pathology at the Technical University of Munich, which included use of the TSO 500 HRD assay.

Large-cohort studies show that CGP has the potential to identify relevant genetic alterations in up to 90% of samples. Illumina is committed to enabling CGP and enhancing research critical to realizing precision medicine in oncology, and collaborations are vital in increasing the evidence of the clinical utility of CGP. Three studies being presented at this year’s meeting build on this evidence base:

Tissue and liquid biopsy utilization in advanced NSCLC in a large community US practice (1162P): This is a poster presentation from a real-world utility study between Illumina and Florida Cancer Specialists & Research Institute. In advanced non-small-cell lung cancer (NSCLC), it is critical to have biomarker testing results early. The results showed that 42% of stage IV NSCLC patients received both liquid and tissue testing and had results in hand prior to first-line treatment more often (89.4%) than those who had just a tissue (67%) or liquid (72.5%) tumor test. This is the first time that a large US community practice, where most oncology patients are seen, has shown data on how using both tissue and liquid biopsy testing enables faster turnaround time, guideline-concordant biomarker testing, and biomarker testing results prior to first-line therapy decisions.

The IMPRESS-Norway trial: Improving public cancer care by implementing precision cancer medicine in Norway (503P): This abstract presents data resulting from the Illumina-supported national trial across Norwegian hospitals to show the potential and value of CGP in cancer therapy selection testing.

Exploring different strategies to incorporate germline analysis in tumor whole genome sequencing (1673P):This abstract presents data from the Illumina-supported Dutch WIDE study (short for “whole-genome sequencing implementation in the standard diagnostics for every cancer patient”), done through a collaboration between the Hartwig Medical Foundation, the Netherlands Cancer Institute, and the University Medical Center Utrecht academic hospital. 

Recently announced CGP collaborations

Illumina continues to expand its broad portfolio of oncology partnerships with industry leaders, aimed at advancing cancer diagnostics and precision medicine. Most recently, Illumina launched the research-use-only TSO 500 HRD test, codeveloped with Merck, to unlock deeper insights about the tumor genome. Earlier this year, in collaboration with Bayer, Illumina launched the first companion diagnostic claim for the TruSight Oncology Comprehensive (EU) test enabling targeted therapy with Bayer’s Vitrakvi (larotrectinib) for patients with NTRK fusion cancer. Additionally, Illumina and Allegheny Health Network launched a collaboration to evaluate the impact of in-house CGP to enhance patient care.

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit and connect with us on TwitterFacebookLinkedInInstagram, and YouTube.

Salli Schwartz
US: +01 858 291 6421

Adi Raval
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