Bionano Genomics announces publication on study comparing OGM, CMA

Bionano Genomics announced the publication of the first peer-reviewed benchmarking study to compare optical genome mapping, OGM, to the current global standard in molecular analysis of constitutional genetic disorders, chromosomal microarray analysis, CMA. The study evaluated the potential of OGM to measure all classes of variant types covered by CMA, including gains, losses, aneuploidy, triploidy and absence of heterozygosity, in indications including unexplained developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The study also compared the performance of OGM to methods such as karyotyping (KT) and fluorescence in situ hybridization, which are used in conjunction with CMA to resolve duplications or when CMA results suggest the presence of a translocation. Key Findings: OGM was 100% concordant with CMA for the detection of pathogenic variants; OGM was 98% concordant with CMA for the detection of clinically significant structural variants; In 22% of samples, the higher resolution of OGM allowed for better refinement of the structure of the genome compared with CMA alone; In 3 cases where CMA results implied unbalanced derivative chromosomes, OGM was able to detect the translocation. “It is important for the research community to have a benchmarking study comparing OGM to CMA, especially for genetic disorders, since OGM has a comparatively cost-effective workflow with simple interpretation and analysis. We are pleased to see the study findings confirm OGM’s full concordance with CMA and its potential to eliminate the need for reflex testing with FISH and KT, based on its higher resolution,” commented Erik Holmlin, president and chief executive officer of Bionano.