Illumina Launches Research Test Codeveloped with Merck to Unlock Deeper Insights into the Tumor Genome

New assay brings validated HRD technology from Myriad Genetics to the Illumina TruSight™ Oncology 500, a single, comprehensive pan-cancer test to identify key variants critical for cancer development and progression

SAN DIEGO, June 22, 2022 /PRNewswire/ -- Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced the launch of a research test, codeveloped with Merck (known as MSD outside the United States and Canada). The research test builds upon Illumina's commitment to broadly enable comprehensive genomic profiling and enhance research critical to realizing precision medicine in oncology. The test adds assessment of a new genomic signature to the distributed, market leading TruSight™ Oncology 500 assay. It will be available globally, excluding the United States and Japan and will enable researchers to unlock deeper insights about the tumor genome by identifying genetic mutations used in the evaluation of homologous recombination deficiency (HRD).

"HRD status has emerged as an important biomarker in tumors that harbor high levels of DNA damage, such as ovarian, breast, prostate, and pancreatic cancers," said Phil Febbo, MD, chief medical officer at Illumina. "With one sample and one test, TruSight Oncology 500 HRD assay provides labs with comprehensive, accurate, sensitive results that can greatly enhance our understanding of the genomic nature of a tumor."

The Research Use Only TruSight Oncology 500 HRD test is a next-generation sequencing (NGS)–based assay that harnesses the power of Illumina NGS technology and validated HRD technology from Myriad Genetics (NASDAQ: MYGN), enabling labs to accurately detect genomic instability and analyze more than 500 genes simultaneously, including those relevant to HRD status. HRD is a genomic signature used to describe when cells are unable to effectively repair double-stranded DNA breaks. When this occurs, cells rely on alternative, error-prone DNA repair mechanisms, which may lead to genomic instability and, eventually, tumor formation.

The Molecular Pathology Diagnostic Unit at the Technical University of Munich participated in the TSO 500 HRD early access program in order to compare the results of Illumina's prototype TSO 500 HRD assay to a validated reference standard, from Myriad Genetics.

"Our institution is delighted by the release of TruSight Oncology 500 HRD and we are very happy with our results from the early access program," said Nicole Pfarr, head of the Molecular Pathology Diagnostic Unit, Technische Universität München. "We look forward to using this assay routinely in our lab for future projects. Combining HRD assessment with TruSight Oncology 500 in one workflow will unlock the most comprehensive view of the tumor genome, while maintaining efficiency in the lab."

Large-cohort studies show that comprehensive genomic profiling (CGP) has the potential to identify relevant genetic alterations in up to 90% of samples. A single, comprehensive assay to assess a wide range of biomarkers uses less sample and returns results more quickly compared to multiple, iterative tests. As a kitted, distributable solution, this test helps to remove barriers for internalization of CGP and HRD testing, so that labs of all sizes can offer this powerful test.

"We are pleased to reach this first milestone with Illumina to commercialize an assay for HRD assessment that will aid in advancing clinical research and broaden access to clinical trials," said Dr. Eric H. Rubin, senior vice president, early-stage development, clinical oncology, Merck Research Laboratories.

The research test is expected to begin shipping globally (excluding the US and Japan) in August. In addition, as part of the partnership announced in September 2021, work is ongoing to develop a new HRD companion diagnostic (CDx) test for the EU and the UK to aid in the identification of ovarian cancer patients with positive HRD status.

This partnership expands on Illumina's broad portfolio of oncology partnerships with industry leaders, with the united goal of advancing cancer diagnostics and precision medicine. 

TSO 500 is a Research Use Only pan-cancer assay that enables Comprehensive Genomic Profiling. Designed to identify known and emerging tumor biomarkers across 523 genes, TSO 500 utilizes both DNA and RNA from tumor samples to identify key variants critical for cancer development and progression, such as small DNA variants, fusions, and splice variants. In addition, the assay assesses key immune-oncology biomarkers, such as Tumor Mutational Burden (TMB), Microsatellite Instability (MSI) and Homologous Recombination Deficiency (HRD). Due to its comprehensive biomarker content, labs can consolidate multiple single-gene or small-panel workflows into a single assay, saving biopsy specimen and time. Click here to learn more.

This release contains forward-looking statements that involve risks and uncertainties, including the expectation for lower costs related to the storing and managing of genomic data costs. Among the important factors that could cause actual results to differ materially from those in any forward-looking statements are: (i) challenges inherent in developing and launching new products and services; (ii) our ability to deploy new products, services, and applications, and to expand the markets for our technology platforms; and (iii) the acceptance by customers of our newly launched products, which may or may not meet our and their expectations once deployed, together with other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We undertake no obligation, and do not intend, to update these forward-looking statements, to review or confirm analysts' expectations, or to provide interim reports or updates on the progress of the current quarter.

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 www.illumina.com and connect with us on Twitter, Facebook, LinkedIn, Instagram, and YouTube.

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