Bionano Genomics Announces Publication of Interim Readout from the Consortium Conducting a Postnatal Clinical Trial Intended to Support Establishing Optical Genome Mapping as Part of Standard of Care in Genetic Disease Diagnosis
January 10 2022 - 8:00AM
Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping
(OGM) solutions on the Saphyr® system and provider of NxClinical™,
the leading software solutions for visualization, interpretation
and reporting of genomic data, today announced the publication of
the first readout from the ongoing clinical trial designed to
support establishing OGM as part of standard of care (SOC) in
diagnosis of genetic disease for postnatal patients. This
publication reports on the postnatal genetic disease diagnostic arm
of Bionano’s study to evaluate OGM as an alternative to SOC
workflows in four key clinical areas: prenatal and postnatal
genetic diseases, hematologic malignancies and solid tumors. The
studies will compare OGM to SOC, including concordance,
reproducibility, technical success rates, turnaround time (TAT),
diagnostic yield, health economics and patient outcomes. 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 trial program with a consortium
like this one 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 813 subjects enrolled to date and
as the interim readout of 202 subjects and 331 sample runs shows,
OGM has performed 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 202
clinical research subjects analyzed in a total of 331 sample runs.
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 a
genetic diagnosis (152), cases without a genetic diagnosis (6) and
controls (44).
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 Health Clinics (Dr. Aaron Bossler)
Key FindingsThis publication describes OGM
performance metrics like first pass success rate and
reproducibility from site-to-site, operator-to-operator and
run-to-run for the first time ever and for the largest number of
samples investigated with OGM to date.
Key findings for the technical endpoints were reported as
follows:
- Concordance with SOC – 97.7% [214 out of 219 samples]
- Partially concordant with SOC – 2.3% [5 out of 219
samples]
- Concordance with SOC for pathogenic variant calls – 100% [219
out of 219 samples]
- Concordance with CMA – 100% [103 out of 103 samples]
- First-pass success rate for OGM – 94% [311 out of 331
samples]
- Reproducibility of analytical QC from site-to-site – 98.8% [171
out of 173 replicates]
- Reproducibility of pathogenic variant calls from site-to-site –
100% [173 out of 173 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 copy
number variation analysis alone, but can also resolve balanced
structural rearrangements, size repeat expansions like FMR1 and
repeat contractions like D4Z4. In summary, the authors concluded
that a single approach, like OGM, can allow genetic laboratories to
provide rapid results with a cost-effective solution, which can
benefit both the lab and the affected individuals.
“The OGM community is evaluating the whole workflow. The
performance we have seen matches our expectations and we are happy
with this publication announcing that OGM is performing well across
multiple sites,” commented Erik Holmlin, PhD, president and
chief executive officer of Bionano. “Congratulations to this team
for getting this paper published in 2021 and congratulations to Dr.
Chaubey on the progress of her program. I am eager to see the
outcome for all trial subjects across the remaining endpoints. We
believe we can change the standard of care in genetic testing with
OGM and these studies can provide important supporting data.”
The full publication can be found online at
https://www.medrxiv.org/content/10.1101/2021.12.27.21268432v1
For more information related to OGM and its application in
genetic diseases and cancer, attend 2022 Symposium, Bionano’s event
for the OGM community. Symposium starts today, January 10, and runs
until Thursday, January 13. For more information, visit
www.bionanogenomics.com and a link to register for 2022 Symposium
is available at
https://www.labroots.com/ms/virtual-event/bngo2022.
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 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.lineagen.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 “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: the reproducibility of
the OGM technique and its ability to be easily adapted and
validated; Bionano’s clinical trial’s ability to support
establishing OGM as part of the SOC and to successfully measure
critical endpoints comparing OGM to SOC; and the potential for OGM
generally to become part of the SOC. 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, including the introduction of competitive technologies
or improvements in existing technologies; failure of future study
results to support those demonstrated in the publication referenced
in this press release; 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 OGM or 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, 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:Amy ConradJuniper Point+1 (858)
366-3243amy@juniper-point.com
Media Relations:Michael SullivanSeismic+1 (503)
799-7520michael@teamseismic.com
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