Benzinga | Dec 8, 2021 08:05AM EST

Bionano Genomics Announces Publication Of Study Evaluating Optical Genome Mapping For High Throughput Characterization Of Cytogenomic Heterogeneity In MDS

Bionano Genomics, Inc. (BNGO), provider of optical genome mapping (OGM) solutions on the Saphyr(r) system and the leading software for genomic data visualization, interpretation and reporting, today announced the publication of a study of 76 subjects by authors at The University of Texas MD Anderson Cancer Center (MD Anderson), including Dr. Guillermo Garcia-Manero, Dr. Rashmi Kanagal-Shamanna and others. The study was published in Blood, the journal of the American Society of Hematology. The study evaluated the utility of OGM as an alternative to traditional cytogenomic methods for the characterization of structural variation (SV) in myelodysplastic syndrome (MDS). MDS refers to disorders of the bone marrow in which it does not produce enough healthy blood cells.



Dr. Rashmi Kanagal-Shamanna from MD Anderson commented: "The results of this study underscore the potential of optical genome mapping to become a single-platform cytogenetic tool for structural variant profiling in indications such as MDS. Structural variant profiling is as important as sequence variant or mutation profiling for proper characterization of MDS in research and patient management. Technical advances in structural variant profiling have lagged those for mutation profiling, despite the fact that large genomic aberrations have been shown to be critical for diagnosis and risk-stratification of MDS and a subset of them are therapeutic targets in clinical trials. We found that OGM provided a consolidated workflow that was simpler to perform and had a shorter turnaround time compared to the three standard methods karyotyping, CMA and FISH. Importantly, OGM was not only concordant with the traditional methods, it enabled us to see more variants in subjects at higher resolution compared to traditional workflows, which has the potential to help drive better outcomes as a result of better patient management. We are pleased with the outcome of this study and we plan to continue using OGM to help make it a standard method for structural variation profiling in the future."

In this study, 76 subjects were selected for analysis by OGM using fresh and frozen bone marrow. Compared to karyotyping, OGM results were 100% concordant. According to this study, OGM resolution was much higher than conventional karyotyping (CK) and enabled precise mapping of SVs at gene-level determining the status of clinically informative biomarkers such as TET2, MECOM, TP53 and KMT2A, without the need for confirmatory assays, and facilitated detailed gene-level characterization of unknown fusions. Of significant interest, OGM identified 23 clinically significant SVs in 18% of the patients which eluded detection by CK. OGM also revealed a number of SVs with uncertain significance, which may be helpful in determining new algorithms for management of subjects after additional research is conducted.

"The work by this team illustrates the utility of OGM in a complex disorder that requires comprehensive SV analysis for proper management," commented Erik Holmlin, PhD, president and chief executive officer of Bionano. "As an alternative to traditional methods like karyotyping, studies have shown that OGM is higher resolution, faster and reveals more variants than traditional methods alone. Each of these attributes is illustrated elegantly in this work and we congratulate Drs. Kanagal-Shamanna, Garcia-Manero and their colleagues on this publication."

Dr. Rashmi Kanagal-Shamanna has been selected to deliver an oral presentation featuring the results from this study on December 11, 2021, at the 63rd annual American Society of Hematology (ASH) meeting. Below is a link to the abstract and presentation summary.

https://ash.confex.com/ash/2021/webprogram/Paper154005.html