Bionano Genomics announces publication of study evaluating OGM for AML samples

Bionano Genomics announced the publication of a multi-institutional peer-reviewed study initiated by the Cancer Genomics Consortium evaluating the performance of optical genome mapping, OGM, for detection of cytogenetic abnormalities in acute myeloid leukemia, AML, samples. OGM identified structural variants and copy number variants with 100% concordance to traditional cytogenetic methods, added important pathogenic findings in 13% of findings, and uncovered additional genomic events in 12% of samples that may change risk stratification and alter recommended clinical care, including access to clinical trials. In the study published in Blood Advances, researchers used OGM to evaluate its performance in the detection of cytogenetic abnormalities in 100 AML samples that had previously been analyzed using methods including karyotyping, fluorescence in situ hybridization and chromosomal microarray analysis. Key findings were: In five subjects, analysis by OGM resulted in a change in risk stratification score compared to the scores determined by KT; In eight subjects, OGM identified additional genomic events that would have rendered those subjects eligible to participate in research studies evaluating the effectiveness of experimental treatments; In three of the subjects that would be eligible to participate in research studies evaluating the effectiveness of experimental treatments, OGM also showed that potential adverse risks would be independent of TP53, which may allow for them to be safely enrolled in multiple trials with known TP53-related adverse effects. Overall, the research study supports the view that OGM analysis may be useful to assemble a more accurate and complete karyotype by refining cytogenetic breakpoints, resolving unknown cytogenomic elements and detecting additional significant variants. "We are excited to see the findings from this study, which was conducted by a multi-site consortium led by renowned pathologists who, through their memberships in various medical societies, are responsible for defining standards of care and testing throughout pathology. We are gratified to see the authors’ recommendation of OGM as a methodology with the potential to become standard-of-care for cytogenomic evaluation of AML samples," commented Erik Holmlin, PhD, president and chief executive officer of Bionano Genomics.