Illumina Merck research test genomic profiling tumors
[Image from Illumina/Merck]

Illumina (Nasdaq:ILMN) announced today that it launched a new research test, co-developed with Merck (NYSE:MRK).

The jointly developed test adds the assessment of a new genomic signature to the already distributed TruSight Oncology 500 assay, enabling researchers to unlock deeper insights about the tumor genome by identifying genetic mutations used in the evaluation of homologous recombination deficiency (HRD). HRD, a genomic signature, describes when cells are unable to effectively repair double-stranded DNA breaks, an occurrence that can lead to genomic instability and eventually tumor formation.

According to a news release, the new test will be made available globally, excluding the U.S. and Japan. The two companies originally announced that they partnered in September 2021 to develop and commercialize tests that identify genetic mutations used in the assessment of 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,” Illumina CMO Dr. Phil Febbo said in the release. “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 uses next-generation sequencing from Illumina and validated HRD technology from Myriad Genetics to enable labs to accurately detect genomic instability and analyze more than 500 genes simultaneously, including those relevant to HRD status.

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

Large-cohort studies demonstrate that comprehensive genomic profiling (CGP) can potentially identify relevant genetic alterations in up to 90% of samples, Illumina said, with a single, comprehensive assay able to assess a wide range of biomarkers using less sample and returning results more quickly compared to multiple, iterative tests.

Illumina and Merck expect the research test to begin shipping globally, bar the U.S. and Japan, in August. They will also work to develop a new HRD companion diagnostic for the European Union and United Kingdom to aid in the detection of ovarian cancer patients with positive HRD status.

“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,” Merck Research Laboratories SVP of Early Stage Development for Clinical Oncology Dr. Eric H. Rubin said.