Bionano Genomics announces three publications on OGM

Bionano Genomics announced the publication of three studies which collectively illustrate the continued development of data supporting optical genome mapping, OGM, as an alternative to traditional cytogenetic methods for the analysis of hematological malignancies. Key Findings and Takeaways: The publication from Ruhr-University Bochum is a combined review of 11 peer-reviewed papers covering 509 samples from subjects in acute myeloid leukemia, acute lymphoblastic leukemia and myelodysplastic syndrome research studies, including the authors’ own independent study of 42 AML and MDS samples. The researchers’ independent study used OGM to analyze 35 AML samples and 7 MDS samples and reported: OGM had a 91% concordance rate with traditional cytogenetic methods for AML cases with additional information detected in 64% of samples; OGM had an 83% concordance rate with traditional methods for MDS cases with additional information detected in 50% of samples; OGM’s threshold for detection could be reduced to a variant allele fraction (VAF) of 1-2% with a 600x coverage protocol; OGM offers a simplified workflow, with results able to be generated in 4 days without the need for cell culture and other complexities found in traditional cytogenetic methods. The publication from University Hospital of Clermont-Ferrand evaluated the performance of OGM against traditional cytogenetic methods in 29 samples characterized as AML or ALL: OGM was 100% concordant with prognostic classification conducted with traditional cytogenetic methods; OGM detected additional cytogenetic and molecular abnormalities not described by standard techniques including aberrations cryptic at the karyotype level in 6 samples; GM identified the involvement of candidate genes with a known or putative role in leukemogenesis or as therapeutic targets, including TP53, TCL1A, KMT2A, CDK6, or BCL11B. The publication from University of Oulu is one of the first studies to evaluate the utility of OGM in chronic lymphocytic leukemia samples: OGM was 100% concordant with traditional cytogenetic methods; Additional chromosomal aberrations were detected in 78% of the samples, including complex karyotypes, which are undetectable by FISH; The authors reported high sensitivity in complex samples where pathogenic variants were present in very low abundance, at a 3-9% VAF.