Illumina, Inc. and Merck are partnering to develop and commercialize tests that identify genetic mutations used in the assessment of homologous recombination deficiency (HRD). Patients whose tumors are HRD-positive may be eligible for targeted treatment by a class of precision medicines called PARP inhibitors. The HRD tests will leverage Illumina’s TruSight Oncology 500 (TSO 500) content, enabling the most comprehensive genomic profiling assays in a single workflow.

This strategic partnership builds on an initial study conducted with Merck and leverages Illumina’s relationship with Myriad Genetics to expand international access to the proprietary technology in Myriad’s FDA approved myChoice CDx companion diagnostic test. Illumina will develop a new HRD CDx test for the EU and the UK to aid in the identification of ovarian cancer patients with positive HRD status who are eligible for treatment with LYNPARZA (olaparib), a PARP inhibitor, jointly developed and commercialized by Merck and AstraZeneca. 

“With such great advances in precision medicine being made by companies such as Merck, it’s essential that patients who would benefit from LYNPARZA are identified,” says Joydeep Goswami, chief strategy and corporate development officer of Illumina. “By leveraging our comprehensive genomic profiling family of products, TruSight Oncology, and the gold standard myChoice HRD technology, Illumina aims to offer the best-in-class HRD assay that is broadly accessible. By harnessing the incredible medicines development expertise of Merck, together we will be able to leverage the use of precision medicines to make a real difference for patients.”

In addition, Illumina will develop and commercialize a research use only (RUO) HRD assay that will be add-on content for the TSO 500 RUO panel. Illumina plans to launch this product globally, excluding the United States and Japan. 

“HRD testing should be an essential component of clinical diagnosis as half of all newly diagnosed patients with advanced ovarian cancer have HRD-positive tumors,” said Eric H. Rubin, MD, senior vice president, early-stage development, clinical oncology, Merck Research Laboratories. “Biomarker testing has rapidly enhanced our understanding of how PARP inhibition can help target a devastating disease, like ovarian cancer and we are excited to partner with Illumina on the development of a distributed CDx HRD assay for the EU and UK.”

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