Bionano Genomics Announces Peer-Reviewed Publication from Johns Hopkins University Outlining a Stepwise Approach to the Adoption of Optical Genome Mapping for Cancer Analysis
“This publication is by an outstanding team at
Conducted as a blinded comparison to a comprehensive collection of tools, this study compared results from OGM to those from whole-genome chromosomal microarrays (CMA) from Illumina, fluorescence in-situ hybridization (FISH) probes from
The findings by OGM were concordant with those obtained by CMA and NGS for copy number variants (CNVs) and FISH and karyotyping for balanced structural variations (SVs) such as inversions and translocations. Sensitivity compared to CMA was 96% (22/23 CNVs detected) excluding copy neutral loss of heterozygosity calls. Sensitivity compared to karyotyping and FISH was 100% (98/98 loci detected). OGM also revealed substantially more SVs than the traditional methods, including an additional 51 CNVs and 20 SVs. Of the variants revealed by OGM that were not detected by the standard methods, 52% involved genes and 7.7% of them involved known cancer genes. The other 48% were classified as variants of unknown significance (VOUSs). The authors point out that these VOUSs have the potential to play a role in further refining patient diagnosis and identifying novel proteins that could be therapeutic targets.
OGM was also used in the study to provide high resolution analysis of subjects with complex karyotypes exhibiting chromothripsis. Chromothripsis, or chromosome shattering, results in highly complex chromosomal structures that are typically very challenging to unravel by CMA, FISH and karyotyping. OGM provides a more comprehensive view across the genome that targeted methods like FISH cannot give and it has been shown to have a higher resolution than traditional methods as well. Compared to karyotyping, which has a resolution of 5 Mbp, OGM’s resolution is 10,000 times higher and compared to CMA, OGM’s resolution is 20-100 times higher, depending on the probe density used on the array. The authors used OGM to reveal and characterize chromothripsis (complex genome structures) in leukemia subjects with unprecedented scope and resolution, which they said can be extremely helpful in determining if there are druggable variants present, markers consistent with aggressive disease or disease that’s treatment refractory.
The principal conclusions of this publication is that OGM provides an alternative workflow that provides valuable genomic information often with higher resolution than traditional methods without sacrificing sensitivity. OGM is complementary to methods like NGS, which reveal sequence variants, and provides an opportunity to simplify and consolidate workflows for SV analysis by using OGM as an alternative to CMA, FISH and karyotyping.
This publication is available at http://www.clinpathology.com/wp-content/uploads/2021/05/JCAP-6-117.pdf.
About
Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its
Forward-Looking Statements of
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “will,” “expect,” “plan,” “anticipate,” “estimate,” “intend” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) 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: our ability to build a paradigm for working with OGM alongside other tools in molecular pathology and cytogenomics; the potential role of VOUSs, including those detected by OGM, in refining patient diagnosis and identifying possible therapeutic targets; and OGM’s ability to simplify workflows for SV analysis as compared to CMA, FISH and karyoptyping and be complementary to NGS. 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 the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products or improvements on existing methods, such as CMA, FISH, karyotyping and NGS; failure of future study results to support those demonstrated in the study referenced in this press release; changes in our strategic and commercial plans; inability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the
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Source: Bionano Genomics