Illumina has launched a research test, co-developed with Merck that builds upon Illumina's commitment to broadly enable comprehensive genomic profiling and enhance research critical to realising precision medicine in oncology.

The test adds an assessment of a new genomic signature to the distributed, market-leading TruSight Oncology 500 assay. It will be available globally, excluding the US and Japan, and will enable researchers to unlock deeper insights into the tumour genome by identifying genetic mutations used in the evaluation of homologous recombination deficiency (HRD).

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, 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, tumour formation.