Illumina & Merck Collaborate to Develop Research Test

The test will identify genetic mutations used in the evaluation of homologous recombination deficiency.

MDDI Staff

June 22, 2022

1 Min Read
Image courtesy of Kristoffer Tripplaar / Alamy Stock Photo

Illumina is in a collaboration with Merck to unlock new tumor insights. The two companies have launched a research test that could identify genetic mutations used in the evaluation of homologous recombination deficiency.

Specifically, the test adds assessment of a new genomic signature to the TruSight Oncology 500 assay.

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.

"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, CMO 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 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.

"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.


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