Study Shows that OGM Plays an Important Role in Efficient Diagnosis of FSHD
01 December 2023 - 12:00AM
Bionano Laboratories today announced the publication by scientists
at Revvity Omics (formerly Perkin Elmer Genomics), Leiden
University Medical Centre, Bombay Hospital, and UT Dallas, of the
largest peer-reviewed study to date on the use of optical genome
mapping (OGM) to diagnose facioscapulohumeral muscular dystrophy
(FSHD).
The publication describes the evaluation of an OGM-based
laboratory developed test (LDT) including the assessment of the
accuracy and precision of the OGM test against the prior standard,
Southern blot analysis by gel electrophoresis. The study authors
assessed the yield of OGM for diagnosing FSHD1 and the ability of
next generation sequencing (NGS) to be used as a reflex test to
identify FSHD2. The study, which included 547 cases with a clinical
suspicion of FSHD, used an algorithm that utilized OGM to identify
the FSHD haplotype and quantitate the number of D4Z4 repeats found
on chromosome 4. Researchers used the NGS LDT to identify sequence
variants, using NxClinical software to detect copy number variants
in the SMCHD1 gene to diagnose cases with FSHD2. The authors noted
that, when compared to other methods, OGM has the advantage of
being able to identify mosaicism and to detect repeat sizing on 4q
and 10q together with haplotyping in a single run.
Key findings:
- Compared to Southern
blot, the OGM LDT was 100% accurate and precise
- The OGM LDT
identified 56% of cases positive for FSHD1 (308 out of 547
samples)
- 252/547 cases were referred for
concurrent testing for FSHD1 and FSHD2
- Sequencing identified FSHD2 in 3.6% of
cases (9 out of 252 samples)
- The OGM LDT detected mosaic alleles
with at least one contracted 4qA allele in 3% of samples positive
for FSHD1 (9 out of 308 samples)
- The overall
diagnostic yield of OGM and NGS combined was 58% (317 out of 547
samples)
“Bionano Laboratories has developed a powerful menu of OGM-based
LDTs, including one LDT for FSHD1 diagnosis. We are pleased to see
this prestigious group of researchers’ findings from the largest
FSHD study to date utilizing OGM. Using the study’s algorithm,
researchers may be able to diagnose most cases of FSHD,
underscoring OGM’s potential to contribute to diagnosis of the
disorder, which may lead to better disease management and
outcomes,” commented Justin Leighton, vice president of laboratory
business at Bionano Laboratories.
The publication can be viewed here.
About Bionano Laboratories:
Bionano Laboratories provides access to genetic answers and
support utilizing cutting-edge technologies to advance the way you
see the genome. Our clinical services offer a genetic testing
experience that combines a comprehensive testing portfolio with
thoughtful and accessible support options for the diagnostic
journey. Bionano Laboratories also offers direct access to optical
genome mapping for applications across basic, translational and
clinical research. For more information, visit
www.bionanolaboratories.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,” “potential,” “would” 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 the OGM for use in
the detection or diagnosis of FSHD; and the ability of OGM-based
LDTs to remove barriers for OGM adoption in clinical and research
settings. 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 adverse
geopolitical and macroeconomic events, such as recent and potential
future bank failures, potential global pandemics and the ongoing
conflicts between Ukraine and Russia and Israel and Hamas, on our
business and the global economy; general market conditions; the
failure of the OGM-LDTs to prove useful for the detection or
diagnosis of FSHD; the failure of OGM-based LDTs to remove barriers
for OGM adoption in clinical and research settings; the ability of
our OGM solutions to offer the anticipated benefits for and
contributions to the areas reported in the study results referenced
in this press release; future study results contradicting the study
results reported in the publication referenced in this press
release; 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 the
ability of our parent corporation, Bionano Genomics, Inc., to
continue as a “going concern”; the ability of medical and research
institutions to obtain funding to support adoption or continued use
of our services and technologies; and the risks and uncertainties
associated with our business and financial condition in general,
including the risks and uncertainties described in the filings of
our parent corporation, Bionano Genomics, Inc., with the Securities
and Exchange Commission, including, without limitation, its Annual
Report on Form 10-K for the year ended December 31, 2022 and in
other filings subsequently made by them 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.
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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