Bionano Announces Peer-Reviewed Publication on the Utility of Combining OGM and a 523-gene NGS Panel for Standard Evaluation of Myeloid Cancers

SAN DIEGO, June 20, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), today announced the publication in Cancers of a peer-reviewed study from Augusta University on the utility of combining optical genome mapping (OGM) and a 523-gene next-generation sequencing (NGS) panel for the standard evaluation of myeloid cancers. Medical society guidelines recommend the use of karyotyping (KT), fluorescence in-situ hybridization (FISH) and sequencing to perform cytogenetic and molecular analysis of patients. The study describes myeloid cancers as posing a significant challenge to manage, with approximately 50% of cases displaying cytogenetically normal genomes, which can confound traditional analysis approaches.

In this blinded retrospective analysis of samples from 30 myeloid cancer subjects, the combination of OGM with the 523-gene NGS panel was compared to the common approach of KT and FISH combined with a 54-gene NGS panel.   A pre-commercial version of Bionano’s new NxClinical software enabled analysis of OGM and NGS data together, providing an integrated picture of genomic variation. Key findings on the performance of OGM combined with 523-gene panel compared to that of KT and FISH combined with the 54-gene panel are summarized below.

Key findings and their impact in this study
OGM identified all SVs detected by KT and FISH	100% concordance
OGM found clinically relevant SVs in cases previously classified as normal by KT and FISH	4 out of 7 cases (57%)
OGM detected SVs listed in NCCN guidelines that were not identified by KT and FISH	5 out of 30 cases (16.6%)
OGM detected SVs listed in the NHS (UK) guidelines that were not identified by KT and FISH	4 out of 30 cases (13%)
The 523-gene panel identified sequence variants of potentially clinical relevance not identified by the 54-gene panel	6 out of 30 cases (20%)
OGM combined with 523-gene panel for MDS cases identified compound heterozygous events of clinical significance, including cases where the genes were listed on NCCN guidelines but missed by the KT/FISH and 54-gene panel	12 out of 30 cases (40%)
OGM results led to reclassification of cancer from simple to complex	5 out of 22 cases (23%)
OGM results with the 523-gene panel for MDS cases led to revisions in IPSS-R risk stratification from very good/good to very poor	2 out of 9 cases (22%)
SV = structural variations; NCCN = National Comprehensive Cancer Network; NHS (UK) = National Health Service, UK;