Bionano Genomics announces publication on utility of OGM

Bionano Genomics announced the publication of a study analyzing optical genome mapping as a method to identify homologous recombination deficiency in breast cancer samples. The study reported that OGM successfully assessed levels of HRD in all samples, potentially improving genomic profiling of solid tumor samples and offering an efficient, lower-cost method of detecting HRD with greater sensitivity than whole genome sequencing. In the study, researchers at Institut Curie analyzed fifteen retrospective HRD triple negative breast carcinoma samples from the RadioPARP clinical trial investigating poly ADP ribose polymerase inhibitors to assess OGM’s ability to identify HRD tumors, which are associated with a hyper-sensitivity to some classes of drugs, in particular to PARP inhibitors. In this study, OGM identified high numbers of tandem duplication and insertion events and large-scale genomic alterations that are characteristic of HRD, including subclonal variants missed by WGS. Though WGS is commonly used for HRD detection, the study authors highlighted challenges associated with using traditional methods and cited OGM’s robust detection of large structural variants with a high resolution, even in samples with low tumor content, as evidence of its potential application as a first-line method in solid tumor analysis for identification of HRD.