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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
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"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 studyOGM identified all SVs detected by KT and FISH100% concordanceOGM found clinically relevant SVs in cases previously classified as normal by KT and FISH4 out of 7 cases (57%)OGM detected SVs listed in NCCN guidelines that were not identified by KT and FISH5 out of 30 cases (16.6%)OGM detected SVs listed in the NHS (UK) guidelines that were not identified by KT and FISH4 out of 30 cases (13%)The 523-gene panel identified sequence variants of potentially clinical relevance not identified by the 54-gene panel6 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 panel12 out of 30 cases (40%)OGM results led to reclassification of cancer from simple to complex5 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 poor2 out of 9 cases (22%)SV = structural variations; NCCN = National Comprehens...