Bionano Genomics, Inc. (Nasdaq: BNGO), today announced a
peer-reviewed publication detailing results from the second phase
of a large multisite clinical study designed to support
establishing optical genome mapping (OGM) as part of the standard
of care (SOC) in diagnosis of genetic disease for postnatal
patients. The clinical study is designed to compare OGM to current
SOC techniques, including concordance, reproducibility, technical
success rate and the rate of detecting reportable findings in
cases. The published first phase of this multisite study
demonstrated OGM’s technical performance and reproducibility across
sites versus SOC analysis. This second phase extended the study to
include additional samples to further assess the technical
performance and clinical utility of OGM for postnatal
constitutional disorders and to evaluate OGM in prospective samples
and in samples from subjects with neurodevelopmental disorders,
including developmental delay, intellectual disability and autism
spectrum disorder (ASD).
The sites conducting the study and their principal investigators
are as follows:
- University of Rochester Medical
Center (Dr. M. Anwar Iqbal)
- Medical College of
Wisconsin (Dr. Ulrich Broeckel)
- Columbia University Medical
Center (Dr. Brynn Levy)
- Greenwood Genetic Center
(Dr. Roger Stevenson)
- Medical College of
Georgia, Augusta University (Dr. Ravindra
Kolhe)
- Praxis Genomics (Dr. Peter L.
Nagy)
- University of Iowa Hospitals &
Clinics (Aaron Stence)
- H. Lee Moffitt Cancer Center (Dr. Aaron
Bossler)
Key Findings
The peer-reviewed publication describes OGM performance metrics
compared to SOC methods for challenging samples from diagnosed and
undiagnosed rare diseases. The key findings are:
- OGM concordance for pathogenic variants
in all combined samples against SOC methods was 99.5% (995 out of
1,000 samples).
- OGM increased the rate of finding
pathogenic or likely pathogenic (P/LP) variants over that of SOC by
a factor of 6% to as much as 50% depending on the patient
population as outlined below:
Patient Population |
Number of Samples |
Number of Samples w P/LP findings by method |
Improvement by OGM (%) |
SOC |
OGM |
Retrospectively collected samples from patients suspected of
various genetic disorders |
405 |
70 (17.3%) |
91 (22.5%) |
30 |
% |
Retrospectively collected samples from patients suspected of
ASD |
216 |
32 (14.8%) |
34 (15.7%) |
6 |
% |
Prospectively collected samples from patients suspected of a
genetic disorder |
94 |
5 (5.3%) |
10 (10.6%) |
50 |
% |
Key Takeaways
The study authors reported that results demonstrate the ability
of an OGM workflow to detect all classes of structural variants
(SVs) with higher resolution compared to current SOC methods,
including aneuploidies, triploidy, translocations, inversions,
insertions, microdeletions, microduplications, nucleotide repeat
expansions or contractions, and absence of heterozygosity (AOH). In
contrast to variants that are detected by microarray, which are
limited to gains and losses, the variants reported by OGM include
all classes of SVs, several of which reside in candidate genes
associated with the phenotype. The authors concluded that OGM can
offer a simple and streamlined workflow that can detect relevant
genomic aberrations and mitigate the need for numerous testing
platforms and time-consuming wet lab work, potentially improving
lab performance by reducing the associated time and costs.
“Development and validation of OGM assays for postnatal analysis
is an area where we believe our technology can have
tremendous global impact. The performance we have
seen matches our expectations. We are extremely happy
with this publication demonstrating OGM’s performance across
multiple sites and its potential ability to perform in a single
assay what today requires multiple technologies,”
commented Erik Holmlin, PhD, president and chief executive
officer of Bionano.
“The process of establishing a trial program like this one is
made possible by capable principal investigators and leading
sites,” commented Alka Chaubey, PhD, FACMG, chief medical
officer of Bionano. “We are pleased that these study authors
concluded that OGM should be considered as a first-tier method of
analysis for postnatal genetic disorders, and that their findings
support the utility of a novel tool like OGM to help solve
challenging cases in constitutional and rare diseases, including
those involving pediatric intellectual disabilities and
autism.”
The publication is available
at https://www.jmdjournal.org/article/S1525-1578(24)00004-7/fulltext#tbl1.
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 within
the meaning of the Private Securities Litigation Reform Act of
1995. Words such as “believe,” “can,” “may,” “potential,” “should,”
“will” 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 and
utility of OGM to detect all classes of SVs with higher resolution,
including aneuploidies, triploidy, translocations, inversions,
insertions, microdeletions, microduplications, nucleotide repeat
expansions or contractions, and absence of heterozygosity (AOH);
the ability and utility of OGM to identity VUSs and L/LP finding
compared to SOC methods; the ability and utility of OGM to become a
SOC for postnatal constitutional disorder analysis and to evaluate
samples from subjects with neurodevelopmental disorders, including
developmental delay, intellectual disability and autism spectrum
disorder (ASD); and the ability and utility of the development and
validation of OGM assays of postnatal analysis. 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 Ukraine-Russia conflict, related sanctions, the
Israel-Hamas war, and any global pandemics, 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; changes in the competitive landscape and the
introduction of competitive technologies or improvements to
existing technologies; failure of future study results to support
those reported and discussed in the publication referenced in this
press release; future study results that contradict the results
discussed and reported in the publication referenced in this press
release; failure of OGM to detect all classes of SVs with higher
resolution, including aneuploidies, triploidy, translocations,
inversions, insertions, microdeletions, microduplications,
nucleotide repeat expansions or contractions, and AOH; failure of
OGM to identity VUSs and L/LP finding compared to SOC methods;
failure of OGM to become a SOC for postnatal constitutional
disorder analysis and to evaluate samples from subjects with
neurodevelopmental disorders, including developmental delay,
intellectual disability and ASD; failure of the development and
validation of OGM assays of postnatal analysis; changes in our
strategic and commercial plans; our ability 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;
and the risks and uncertainties associated with our business and
financial condition in general; 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 our ability to continue as a “going
concern”; 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, 2022 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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