Bionano Announces Publication of Interim Readout from Clinical Trial Run by Consortium Analyzing Optical Genome Mapping as Potential Standard of Care for Prenatal Testing
18 Janeiro 2023 - 10:00AM
Bionano Genomics, Inc. (BNGO) today announced the publication
of an 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
prenatal study focuses on comparing OGM to SOC, including
concordance, reproducibility, technical success rates, turnaround
time (TAT), diagnostic yield, and health economics. This first
interim readout is designed to evaluate endpoints connected to
analytical performance in key areas of technical performance and
reproducibility of OGM.
“The process of establishing a consortium like this one to
conduct a multi-site trial program is made possible by capable
principal investigators and leading sites,” commented Alka
Chaubey, PhD, FACMG, chief medical officer of Bionano. “We believe
the trial is off to a terrific start, with a total of 414 subjects
enrolled to date and with an interim readout of 123 subjects and
200 sample runs that show OGM performing very well. We look forward
to the investigators proceeding with the remaining samples and
evaluating other critical endpoints like comparative diagnostic
yields, turnaround times and health economic impacts.”
Study DesignThe study is an Institutional
Review Board-approved, multicenter, double-blinded trial with
samples from 123 clinical research subjects analyzed in a total of
200 sample runs to date. All samples had been previously tested
with traditional methods like karyotyping, fluorescence in situ
hybridization (FISH) and chromosomal microarray (CMA). The samples
were from cases with known pathogenic or likely pathogenic variants
(78), cases with known variants of uncertain significance (27),
cases with no known reportable variant (18) and genomic controls
(17).
The sites conducting the study and their principal investigators
are as follows:
- Equanimitas (Dr. Roger Stevenson)
- Cincinnati Children’s Hospital Medical
Center (Dr. Jie Liu)
- University of Rochester Medical Center (Dr. Anwar
Iqbal)
- Greenwood Genetic Center (Dr. Barbara DuPont)
- University of California San
Francisco (Dr. Aleksander Rajkovic)
- Brigham and Women’s Hospital, and Harvard Medical School
(Dr. Adrian M. Dubuc)
- Columbia University Irving Medical Center (Dr. Brynn
Levy)
- Quest Diagnostics Nichols Institute (Dr. Peter Bui)
- Augusta University (Dr. Ravindra Kolhe)
Key FindingsThis publication describes OGM
performance metrics like robustness and reproducibility from
site-to-site, operator-to-operator and run-to-run for the first
time ever and for the largest number of prenatal samples
investigated with OGM to date.
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 SOC tests needed to reach a diagnosis
in 56% of cases (69/123) and to three separate SOC tests needed to
reach a diagnosis in 19% of cases (23/123)
- Concordance with SOC – 100% [200 out of 200 samples]
- Concordance with SOC for variant calls – 100% [78 out of 78
variants]
- Reproducibility of analytical QC from site-to-site – 100% [83
out of 83 replicates]
- Reproducibility of variant calls from site-to-site – 100% [83
out of 83 replicates]
Key TakeawaysThe publication concluded that
these results demonstrate high technical performance of the OGM
workflow from DNA isolation through data analysis. The authors
reported that replicate run performance demonstrates
reproducibility of OGM, suggesting it can be adapted and validated.
The authors further pointed out that OGM is not limited to
structural variant and copy number variation analysis alone but can
also resolve repeat expansions greater than 500bp. The authors also
cited OGM’s ability to run an additional analysis pipeline for the
screening of individuals with an expanded allele in
the FMR1 gene that could be causative of Fragile X
syndrome. Screening for this repeat expansion is currently
performed as a separate SOC test. The authors concluded that a
single approach, like OGM, can allow genetic laboratories to
provide rapid results with a cost-effective solution.
“Development and validation of OGM assays for prenatal 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 requires two to three technologies in the SOC tests in
practice today to reach a conclusive answer,” commented Erik
Holmlin, PhD, president and chief executive officer of Bionano. “I
am eager to see the outcome for all trial subjects across the
remaining endpoints. 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/10.1101/2022.12.19.22283552v1.full-text
About Bionano Genomics
Bionano Genomics 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. Through its BioDiscovery business,
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. For more information, visit
www.bionanogenomics.com, www.bionanolaboratories.com or
www.biodiscovery.com
Forward-Looking Statements of Bionano
Genomics
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) 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 become a SOC prenatal
test; the utility of OGM when used for the analysis of prenatal
samples; and the ability of OGM to accurately detect genetic
disorders, including structural variants, copy number variants,
repeat expansions greater than 500bp and Fragile X syndrome, and,
as a single technology, to result in a workflow that is
cost-effective, highly sensitive and has a faster time to results
than traditional cytogenetic methods. 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:
global and macroeconomic events, such as the impact of the COVID-19
pandemic and the ongoing Ukraine-Russian conflict and related
sanctions, 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; failure of OGM to accurately detect genetic
disorders, including structural variants, copy number variants,
repeat expansions greater than 500bp and Fragile X syndrome, and,
as a single technology, to result in a workflow that is
cost-effective, highly sensitive and has a faster time to results
than traditional cytogenetic methods; future study results
contradicting the results reported in the publication referenced
above; 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, 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, 2021
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:Amy ConradJuniper Point+1
(858) 366-3243amy@juniper-point.com
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