Bionano Genomics Announces Peer-Reviewed Publication from Johns Hopkins University Outlining a Stepwise Approach to the Adoption of Optical Genome Mapping for Cancer Analysis
November 22 2021 - 8:00AM
Bionano Genomics, Inc. (BNGO), provider of optical genome mapping
(OGM) solutions on the Saphyr® system and the leading software for
genomic data visualization, interpretation and reporting, today
announced the publication of a study by Johns Hopkins University in
the Journal of Clinical & Anatomic Pathology outlining a
stepwise approach to adoption of OGM for cancer analysis in the
cytogenetics lab.
“This publication is by an outstanding team at Johns Hopkins
University and we believe it represents the type of foundational
work needed to establish where OGM fits in the cancer analysis lab
and the types of subjects and samples that should be analyzed with
OGM,” commented Dr. Alka Chaubey, chief medical officer of Bionano
Genomics. “Knowing how different samples perform with OGM and the
variants it detects can allow us to build a paradigm for working
with OGM alongside other powerful tools in molecular pathology and
cytogenomics as we push forward in our mission to transform the way
the world sees the genome.”
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 Abbott, a
targeted panel by next-generation sequencing (NGS) from Illumina, a
gene fusion panel by gene expression on the nCounter from
NanoString and traditional g-banding by karyotyping. The cohort
comprised five different cancer subjects and multiple sample types:
four leukemia/lymphoma subjects and one solid tumor subject across
three bone marrow samples, one peripheral blood sample and one
solid tumor sample (kidney tissue from a Wilm’s tumor subject).
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 Genomics
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 Lineagen business, the Company also provides diagnostic
testing for patients with clinical presentations consistent with
autism spectrum disorder and other neurodevelopmental disabilities.
Through its BioDiscovery business, the Company also offers an
industry-leading, platform-agnostic software solution, which
integrates next-generation sequencing and microarray data designed
to provide analysis, visualization, interpretation and reporting of
copy number variants, single-nucleotide variants and absence of
heterozygosity across the genome in one consolidated view. For more
information, visit www.bionanogenomics.com, www.lineagen.com or
www.biodiscovery.com.
Forward-Looking Statements of Bionano
Genomics
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 Securities and Exchange Commission, including, without
limitation, our Annual Report on Form 10-K for the year ended
December 31, 2020 and in other filings subsequently made by us with
the Securities and Exchange Commission. All forward-looking
statements contained in this press release speak only as of the
date on which they were made and are based on management’s
assumptions and estimates as of such date. We do not undertake any
obligation to publicly update any forward-looking statements,
whether as a result of the receipt of new information, the
occurrence of future events or otherwise.
CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics,
Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com
Investor Relations:Amy ConradJuniper Point+1 (858)
366-3243amy@juniper-point.com
Media Relations:Michael SullivanSeismic+1 (503)
799-7520michael@teamseismic.com
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