Bionano Announces Three Publications Demonstrating OGM’s Utility for Hematological Malignancy Research
- Three peer-reviewed publications collectively illustrate the building support in
Europefor optical genome mapping (OGM) as a powerful alternative to traditional methods of cytogenetic analysis for hematological malignancies
- Taken together, the publications, a review paper and two independent studies, illustrate that OGM is not only comparable to traditional methods of cytogenetic analysis for hematological malignancies but is potentially more sensitive in the detection of relevant aberrations
Key Findings and Takeaways
The publication from Ruhr-University Bochum (Nilius-Eliliwi et al.) is a combined review of 11 peer-reviewed papers covering 509 samples from subjects in acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL) and myelodysplastic syndrome (MDS) research studies, including the authors’ own independent study of 42 AML and MDS samples. The authors concluded that OGM offers unbiased genome-wide analysis of structural variants (SVs) with high resolution. The authors noted that, in a single workflow, OGM can combine most of the current diagnostic yield of traditional cytogenetic methods with substantial additional information regarding unseen SVs and the clarification of previously unclear findings. The authors also noted OGM’s ability to detect currently unknown variants, which might give insight into disease biology and refine risk stratification.
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
- 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
- OGM 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
- 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
“We have seen a significant increase in the number of peer-reviewed studies showing OGM’s utility for hematological malignancy research. These three new publications from European sites underline those positive results and confirm OGM’s potential to serve as a first-tier cytogenetic method for analysis, due to its ability to perform, in a single assay what today requires multiple technologies, with effective and reliable results,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano.
The publication from Nilius-Eliliwi et al. is available at https://www.mdpi.com/2072-6694/15/6/1684; the publication from Soler et al. is available at https://www.mdpi.com/2072-6694/15/7/2131; the publication from Valkama et al. is available at https://www.mdpi.com/2072-6694/15/4/1294.
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “can,” “could,” “may,” “potential,” “would,” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances and the negatives thereof) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the performance of OGM compared to traditional cytogenetic methods including karyotyping and FISH for the identification of SVs; the ability and utility of OGM to detect SVs in hematologic malignancies including AML, ALL, CLL, and MDS samples; the ability and utility of OGM to be adopted as a first-tier test for the identification of SVs in hematologic malignancies including AML, ALL, CLL, and MDS samples; and other statements that are not historical facts.
Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of geopolitical and macroeconomic developments, such as the ongoing
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Source: Bionano Genomics