Bionano Announces Publication of Interim Readout from Second Phase of Clinical Trial Analyzing Optical Genome Mapping as Standard of Care (SOC) for Prenatal Testing
January 24 2024 - 8:00AM
Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the
publication of the second interim report from an ongoing clinical
trial designed to support establishing OGM as part of standard of
care (SOC) in diagnosis of genetic disease for prenatal subjects.
This publication reports on the prenatal genetic disease clinical
trial program to evaluate OGM as an alternative to SOC workflows.
This second interim readout is designed to evaluate endpoints
connected to analytical performance using an expanded dataset in
key areas of technical performance and clinical utility of OGM.
Study DesignThe study is an Institutional
Review Board (IRB)-approved, multicenter, double-blinded trial with
samples from 219 unique retrospective (57) and prospective (162)
clinical research subjects. All samples had been previously tested
with traditional methods including karyotyping (KT), fluorescence
in situ hybridization (FISH) and chromosomal microarray (CMA). The
samples were from cases with reported pathogenic findings (82),
likely pathogenic findings (1), cases with known variants of
uncertain significance (19), and cases with no known reportable
variant (117).
The sites conducting the study and their principal investigators
are as follows:
- Greenwood Genetic Center
(Dr. Roger Stevenson, Dr. Steven A. Skinner, Dr. Barbara
DuPont)
- Cincinnati Children’s Hospital Medical
Center (Dr. Jie Liu)
- University of Rochester Medical
Center (Dr. Anwar Iqbal)
- University of California San
Francisco (Dr. Aleksander Rajkovic)
- Columbia University Irving Medical
Center (Dr. Brynn Levy)
- Quest Diagnostics Nichols Institute
(Dr. Peter Bui)
- Augusta University (Dr. Ravindra
Kolhe)
- Brigham and Women’s Hospital (Dr. Sam
Brody)
Key FindingsThis publication describes OGM
performance metrics including performance, robustness and
reproducibility in prenatal samples when compared to SOC
methods.
Key findings for the technical endpoints were reported as
follows:
- Results of OGM analysis were
comparable, in a single assay, to the results of two separate
standard of care (SOC) tests needed to reach a diagnosis in 71.2%
of cases (156/219) and to three separate SOC tests needed to reach
a diagnosis in 26.9% of cases (59/219)
- Compared to CMA, FISH and KT combined
in this cohort, OGM had the following performance:
- Concordance: 100%
- Sensitivity: 99.2%
- Specificity: 100%
- Positive Predictive Value (PPV):
100%
- Negative Predictive Value (NPV):
95.5%
- Overall accuracy: 99.6%
Key TakeawaysThe publication concluded that
these results demonstrate the technical performance and utility of
the OGM workflow from DNA isolation through data analysis when
compared to SOC methods. The authors noted that a single approach,
like OGM, can allow genetic analysis laboratories to provide
results that are comparable or even more informative than classical
methods with a rapid cost-effective solution.
“We are pleased to see results from the expansion of our
prenatal clinical study, with a total of 342 subjects analyzed in
this study and with an interim readout that shows OGM is highly
concordant with SOC methods. We look forward to the investigators
proceeding with analysis and reporting for our total study
enrollment of 500 unique samples,” commented Alka Chaubey,
PhD, FACMG, chief medical officer of Bionano.
“The use of OGM for the analysis of prenatal samples is an area
of critical importance, especially for patients who are currently
subject to a costly, time-consuming and labor-intensive process to
get results. The results from the second phase of our prenatal
clinical study demonstrate the workflow’s strong performance and
potential ability to provide answers from a single assay compared
to the two to three assays required with the traditional methods
commonly used today,” commented Erik Holmlin, PhD, president
and chief executive officer of Bionano. “This expanded dataset
provides a more comprehensive evidence-based understanding of the
potential for OGM’s progression towards integration as a tier-one
cytogenomic diagnostic technique. We are thrilled with
the authors’ recommendations for inclusion of
OGM in the
SOC testing in prenatal genetic analysis and
these studies can provide important supporting data.”
The publication can be found online
at https://www.medrxiv.org/content/10.1101/2023.12.22.23300469v1.full-text.
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 “can,” “may,” “potential” 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: the ability and utility of OGM to provide
results highly concordant with classical cytogenetic methods
(including CMA, FISH and KT) for genetic diseases from prenatal
samples; the ability and utility of OGM to detect potentially
pathogenic variants in prenatal samples missed by classical
cytogenetic methods; the ability and utility of OGM to provide
variant information comparable to the variant information from two
or three classical SOC cytogenetic methods; the ability and utility
of OGM to become a tier-one diagnostic technique for genetic
disease diagnosis of prenatal samples; and our ability to drive
adoption of OGM and our technology solutions to be used as part of
the analysis for prenatal samples. 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
timing and amount of revenue we are able to recognize in a given
fiscal period; the impact of adverse geopolitical and macroeconomic
events, such as recent and potential future bank failures,
inflation, supply chain disruptions, global pandemics and the
ongoing conflicts between Ukraine and Russia and Israel and Hamas,
on our business and the global economy; general market conditions;
changes in the competitive landscape and the introduction of
competitive technologies or improvements to existing technologies;
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”; the ability of medical and research institutions to
obtain funding to support adoption or continued use of our
technologies; study results that differ or contradict the results
mentioned in this press release; failure of the ability and utility
of OGM to provide results highly concordant with classical
cytogenetic methods (including CMA, FISH and KT) for genetic
diseases from prenatal samples; failure of the ability and utility
of OGM to detect potentially pathogenic variants in prenatal
samples missed by classical cytogenetic methods; failure of the
ability and utility of OGM to provide variant information
comparable to the variant information from two or three classical
SOC cytogenetic methods; failure of the ability and utility of OGM
to become a tier-one diagnostic technique for genetic disease
diagnosis of prenatal samples; failure of our ability to drive
adoption of OGM and our technology solutions to be used as part of
the analysis for prenatal samples; failure of 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, 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 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@bionano.com
Investor Relations:David HolmesGilmartin
Group+1 (858) 888-7625IR@bionano.com
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