Benchmarking Study Shows Streamlined Structural Variant Detection and High Concordance for OGM Compared to Chromosomal Microarray Analysis, the Global Standard in Genetic Disease Analysis
28 Setembro 2023 - 9:00AM
Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the
publication of the first peer-reviewed benchmarking study to
compare optical genome mapping (OGM) to the current global standard
in molecular analysis of constitutional genetic disorders,
chromosomal microarray analysis (CMA).
The study evaluated the potential of OGM to measure all classes
of variant types covered by CMA, including gains, losses,
aneuploidy, triploidy and absence of heterozygosity, in indications
including unexplained developmental delay/intellectual disability
(DD/ID), autism spectrum disorders (ASD), and multiple congenital
anomalies (MCA). The study also compared the performance of OGM to
methods such as karyotyping (KT) and fluorescence in situ
hybridization (FISH), which are used in conjunction with CMA to
resolve duplications or when CMA results suggest the presence of a
translocation.
Key Findings:
- OGM was 100%
concordant with CMA for the detection of pathogenic variants (46
out of 46 pathogenic variants detected in 36 samples)
- OGM was 98% concordant with CMA for the
detection of clinically significant structural variants (60 out of
61 clinically significant variants detected by OGM were in
agreement with CMA results; 1 variant was called a duplication by
CMA and called an insertion by OGM)
- In 22% of samples (12 out of 55
samples), the higher resolution of OGM allowed for better
refinement of the structure of the genome compared with CMA
alone
- In 3 cases where CMA results implied
unbalanced derivative chromosomes, OGM was able to detect the
translocation (fusion)
“According to guidelines, CMA is the global standard for
molecular analysis of constitutional genetic disorders.
Additionally, KT and FISH are needed as a reflex when researchers
must confirm a translocation or locate a duplication.
CMA remains the current global standard because short-read whole
genome sequencing (WGS) remains too expensive to run at sufficient
depth to offer comparable resolution to what CMA provides, and
low-pass WGS is typically only cost-effective with high sample
volumes. The gap between long-read sequencing and CMA is even
greater than the gap between short-read WGS and CMA.
It is important for the research community to have a
benchmarking study comparing OGM to CMA, especially for genetic
disorders, since OGM has a comparatively cost-effective workflow
with simple interpretation and analysis. We are pleased to see the
study findings confirm OGM’s full concordance with CMA and its
potential to eliminate the need for reflex testing with FISH and
KT, based on its higher resolution,” commented Erik Holmlin,
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 within
the meaning of the Private Securities Litigation Reform Act of
1995. Words such as “believe,” “can,” “could,” “may” “potential”
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 potential of OGM
to measure all classes of variant types covered by CMA in
indications including DD/ID, ASD and MCA and eliminate the need for
reflex testing with FISH and KT, based on its higher resolution;
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 Ukraine-Russia conflict, related sanctions,
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; failure of our OGM solutions to measure all classes of
variant types covered by CMA in a manner consistent with the study
results described in this press release; 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, 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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