Georgia Esoteric and Molecular Laboratory at Augusta University Now Offers Diagnostic Service for Constitutional Genetic Diso...
May 03 2021 - 8:00AM
Bionano Genomics, Inc. (Nasdaq: BNGO), announced today that the
Georgia Esoteric and Molecular (GEM) Laboratory at the Medical
College of Georgia (MCG) at Augusta University is now offering
diagnostic services for constitutional genetic disorders through a
laboratory-developed test (LDT) based on optical genome mapping
(OGM) with the Saphyr® System. The LDT developed by Dr. Ravindra
Kolhe and his team is designed for pediatric patients suspected to
have a neurodevelopmental genetic disorder. Dr. Kolhe is developing
additional OGM-based LDTs for prenatal genetic disorders and other
indications.
Current medical guidelines recommend that patients with a
suspected genetic condition, such as a pediatric neurodevelopmental
disorder like autism spectrum disorder, first undergo analysis for
structural variation with whole-genome analysis by chromosomal
microarray (CMA) and are tested for Fragile X. Depending on the
results of these first-line tests, further whole-genome analysis by
Karyotyping (KT) may be indicated. This workflow is widely
considered to be cumbersome, time-consuming, expensive, and
inefficient. The OGM-based LDT developed and validated by MCG’s GEM
laboratory provides all the information sought in the first-line
CMA and Fragile X testing recommended by medical guidelines, as
well as the information that would be sought in a reflex to KT, in
a single assay. A single assay for the detection of all types of
structural variants (SVs), like this LDT, offers the potential to
achieve a higher rate of diagnosis using a workflow that is faster,
easier and lower cost.
Ravindra Kolhe, MD, PhD, FCAP., commented: “Since our initial
evaluation of Saphyr, we have been impressed by the ability of OGM
to identify all structural variant types, which could be associated
with a genetic disorder. During the development of our LDT, we
found that OGM scored a perfect 100% on all relevant performance
metrics (specificity, sensitivity, accuracy, and precision) on
tested SVs when compared to standard of care methods. The
validation of our LDT for constitutional cytogenetics is only the
start, as we are continuing the development of similar LDTs for
additional clinical applications, making OGM-based LDTs a key part
of our menu of diagnostic tests.”
Erik Holmlin, PhD, CEO of Bionano Genomics commented: “Dr. Kolhe
and his team have made incredible progress in the last year, making
breakthrough research discoveries with OGM in the genomes of
patients with severe COVID-19 disease. Despite the enormous
workload that the COVID-19 pandemic brought to their diagnostic
lab, they have continued their fast-paced development of
Saphyr-based LDTs. We want to congratulate Dr. Kolhe and the entire
GEM lab on successfully validating this LDT, making them the first
academic CLIA lab in the United States to offer diagnostic whole
genome analysis with assays they developed on Saphyr. Several
laboratories in the U.S. such as PerkinElmer Genomics and the
University of Iowa Hospitals and Clinics have already launched
Saphyr-based LDTs targeting a specific clinical indication. The
MCG’s GEM lab is only the second clinical lab to provide an LDT
based on whole-genome analysis with OGM in the U.S., following
Praxis Genomics. We expect more U.S. laboratories to develop LDTs
for several clinical applications in the future, continuing to
define Saphyr as a key tool for next-generation cytogenomics in
cancer and genetic disease.”
About Bionano GenomicsBionano is a genome
analysis company providing tools and services based on its Saphyr
system to scientists and clinicians conducting genetic research and
patient testing, and providing diagnostic testing for those with
autism spectrum disorder (ASD) and other neurodevelopmental
disabilities through its Lineagen business. Bionano’s Saphyr system
is a research use only platform for ultra-sensitive and
ultra-specific structural variation detection that enables
researchers and clinicians to accelerate the search for new
diagnostics and therapeutic targets and to streamline the study of
changes in chromosomes, which is known as cytogenetics. The Saphyr
system is comprised of an instrument, chip consumables, reagents
and a suite of data analysis tools. Bionano provides genome
analysis services to provide access to data generated by the Saphyr
system for researchers who prefer not to adopt the Saphyr system in
their labs. Lineagen has been providing genetic testing services to
families and their healthcare providers for over nine years and has
performed over 65,000 tests for those with neurodevelopmental
concerns. For more information, visit www.bionanogenomics.com
or www.lineagen.com.
Forward-Looking Statements
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: Saphyr’s capabilities
in comparison to and in conjunction with other genome analysis
technologies, including in the comprehensive analysis of human
genomes; the potential for Saphyr to become a central technique for
studying DNA replication, DNA repair and genome instability; the
potential for Saphyr-based DNA replication methods to enable the
discovery of novel cancer treatments; our expectations regarding
the broader adoption of Saphyr as a clinical tool to replace other
diagnostic testing and genome analysis technologies; and the
execution of Bionano’s strategy. 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; 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; 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 and Media
Contact:Amy ConradJuniper Point+1 (858)
366-3243amy@juniper-point.com
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