Bionano Announces Publication Showing that OGM Identifies Genetic Aberrations in Sarcoma Samples that May Lead to Improved Diagnosis but were Missed by Classical Cytogenetics
03 Abril 2024 - 9:00AM
Bionano Genomics, Inc. (Nasdaq: BNGO), today announced the
publication of a peer-reviewed study that compared optical genome
mapping (OGM) to classical cytogenetic techniques used for analysis
of solid tumor cancer samples consisting of soft tissue and bone
sarcomas, including fluorescence in situ hybridization (FISH) and
karyotyping (KT). OGM demonstrated high levels of concordance with
FISH and KT but was also shown to exclusively detect alterations in
known oncogenes and tumor suppressor genes and to identify
additional pathogenic aberrations, including chromothripsis and
chromoplexy, that were not detected by multiple other cytogenetic
methods.
Sarcomas represent over 100 histological subtypes and are highly
heterogenous in their genetic landscape and prognosis. Accurate
diagnosis of these tumors is dependent on the identification of
underlying genetic aberrations, which can include large, and often
complex, structural variants (SVs) or copy number variants (CNVs)
involving oncogenes or tumor suppressor genes. The detection of SVs
and CNVs remains challenging and typically requires
multiple traditional cytogenetic techniques. In this
study, researchers demonstrated OGM’s ability to detect aberrations
as small as 500 bp, which is approximately 10,000-fold higher
resolution than that of KT. As shown in this study, OGM can provide
better characterization of the genomic complexity of sarcoma
samples when compared to traditional cytogenetic techniques, due to
the workflow’s high resolution and comprehensive, genome-wide
analysis.
Key findings:
- OGM was concordant with traditional
methods for the detection of pathogenic variants in 32 out of 35
cases (91%)
- OGM detected loss of CDKN2A/B in 9 out
of 38 cases (24%), all missed by classical methods, which is
associated with poor prognosis in soft tissue sarcomas
- OGM uniquely detected chromothripsis in
9 out of 35 cases (26%)
- In 5 out of 25 cases (20%) with
diagnostic fusions, OGM showed that chains of rearrangements
generated the fusions, three of which involved chromoplexy
“Characterization of sarcoma is enormously challenging and
requires several different techniques, which often yield equivocal
results that don’t explain the underlying disorder. We are pleased
to see results from this study on the use of OGM to investigate
sarcomas, which provided the study authors with insights into
the genomic complexity underlying various
aberrations, highlighting the high sensitivity and robustness
of our workflow and enhancing our understanding of tumor
biology. We believe this study is an important advancement for OGM
and for the cancer research community as it now illustrates the
utility of OGM not only in cancer, but in an important solid
tumor,” commented Erik Holmlin, PhD, president and chief executive
officer of Bionano.
The publication can be viewed here.
About Bionano
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, Inc. d/b/a Bionano
Laboratories business, the Company also provides diagnostic
testing for patients with clinical presentations consistent with
autism spectrum disorder and other neurodevelopmental disabilities.
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. The Company additionally offers
nucleic acid extraction and purification solutions using
proprietary isotachophoresis technology. For more information,
visit www.bionano.com, www.bionanolaboratories.com or www.purigenbio.com.
Unless specifically noted otherwise, Bionano’s OGM products
are for research use only and not for use in diagnostic
procedures.
Forward-Looking Statements of Bionano
This press release contains forward-looking statements contains
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995. Words such as “believe,”
“can,” “may” 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 ability of OGM to
detect aberrations as small as 500 bp; the potential of OGM to
deliver concordant results with traditional cytogenetic methods;
the ability of OGM to uniquely identify SVs when comparted to
traditional cytogenetic methods; the ability of OGM to detect
pathogenically relevant SVs in sarcomas; the future potential for
OGM to provide improved diagnoses of sarcomas when compared to
traditional cytogenetic techniques; 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 recent and future bank
failures, the ongoing conflicts between Ukraine and Russia and
Israel and Hamas, and related sanctions, and any global pandemics,
inflation, or supply disruptions, on our business and the global
economy; challenges inherent in developing, manufacturing and
commercializing products; our ability to further deploy new
products and applications and expand the markets for our technology
platforms; the failure of OGM to detect aberrations as small as 500
bp; the failure of OGM to deliver concordant results with
traditional cytogenetic methods; the failure of OGM to uniquely
identify SVs when comparted to traditional cytogenetic methods; the
failure of OGM to detect pathogenically relevant SVs in sarcomas;
the failure of OGM to provide improved diagnoses of sarcomas when
compared to traditional cytogenetic techniques; future study
results that contradict or do not support the study results
described in this press release; our expectations and beliefs
regarding future growth of the business and the markets in which we
operate; changes in our strategic and commercial plans; our ability
to obtain sufficient financing to fund our strategic plans and
commercialization efforts; and 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, 2023 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 are under no duty to update any of these
forward-looking statements after the date they are made to conform
these statements to actual results or revised expectations, except
as required by law. You should, therefore, not rely on these
forward-looking statements as representing our views as of any date
subsequent to the date the statements are made. Moreover, except as
required by law, neither we nor any other person assumes
responsibility for the accuracy and completeness of the
forward-looking statements contained in this press release.
CONTACTS
Company Contact:Erik Holmlin, CEOBionano
Genomics, Inc.+1 (858) 888-7610eholmlin@bionano.com
Investor Relations:David HolmesGilmartin
Group+1 (858) 888-7625IR@bionano.com
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