"HRD status has become an important biomarker in tumors that have high levels of DNA damage, such as ovarian, breast, prostate and pancreatic cancers," said Phil Febbo, Dr., Chief Medical Officer at Illumina. "With a single sample and a single test, the TruSight Oncology 500 HRD test provides laboratories with comprehensive, accurate and sensitive results that can significantly improve our understanding of the genomic nature of a tumor."

The TruSight Oncology 500 HRD screening test is a next-generation sequencing (NGS)-based test that harnesses the power of Illumina's NGS technology and Myriad Genetics' (NASDAQ: MYGN) validated HRD technology. It allows laboratories 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 cases where cells are unable to effectively repair double-stranded DNA breaks. In this case, the cells rely on alternative and error-prone DNA repair mechanisms, which can lead to genomic instability and, ultimately, tumor formation.

The Molecular Pathology Diagnostic Unit at the Technical University of Munich participated in the TSO 500 HRD Early Access Program to compare the results of illumina's prototype TSO 500 HRD test to a validated reference standard from Myriad Genetics.

"Our institution is delighted with the launch of the TruSight Oncology 500 HRD, and we are also very pleased with the results achieved under the early access program," said Nicole Pfarr, Head of the Molecular Pathology Diagnostic Unit, Technical University of Munich. "We look forward to using this test routinely in our lab for future projects. Combining the HRD assessment and the TruSight Oncology 500 test into a single process will provide the most complete view of the tumor genome, without impacting the efficiency of the laboratory. »

Large-scale cohort studies show that complete genomic profiling (CGP) has the potential to identify relevant genetic alterations in up to 90% of samples. A complete analysis of a single wide range of biomarkers uses fewer samples and yields results faster than multiple, iterative tests. As a kit-distributeable solution, this test helps remove barriers to internalizing CGP and HRD analyses. Thus, laboratories of all sizes can offer this powerful screening.

"We are pleased to take this first step in commercializing an HRD benchmark test with Illumina. This test will help advance clinical research and expand access to clinical trials," said Dr. Eric H. Rubin, Senior Vice President, Early Development, Clinical Oncology, Merck Research Laboratories.

The test is expected to begin distribution worldwide in August (except the United States and Japan). In addition, as part of the partnership announced in September 2021, work is underway to develop a new HRD Companion Diagnostic Test (CDx) for the European Union and the United Kingdom, to facilitate the identification of ovarian cancer patients with HRD-positive status.

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