Day One of Bionano’s Next-Generation Cytogenomics Symposium: Customer Progress in Applications Development in Prenatal Testing, Validation Against Traditional Cytogenetics and Resolution for Undiagnosed Patients

  • Path to LDT for prenatal genetic test of positive NIPT cases presented
  • 100% concordance with standard cytogenetic and molecular methods in genetic diseases reported
  • Resolution of undiagnosed rare diseases using OGM in US, Europe and China described 
  • Inter-site/operator/instrument reproducibility and 100% data concordance measured

SAN DIEGO, Jan. 12, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that day one of its five-day Next-Generation Cytogenomics Symposium featured six Saphyr users presenting their results and experiences using the Saphyr® system for optical genome mapping (OGM) to analyze the genomes of patients with genetic disease. The presentations by scientists and clinicians from leading hospitals and medical research institutions in Europe, the US and China discussed results on prenatal testing, infertility, and a wide variety of constitutional genetic disorders.

Ravindra Kolhe, MD, PhD, Vice-Chairman of Pathology at the Medical College of Georgia at Augusta University described his progress in developing a laboratory developed test (LDT) for prenatal testing with Saphyr as a confirmatory diagnostic test for positive NIPT tests. Results from his study showed 100% concordance between OGM and the current gold standard, the combination of karyotyping, fluorescent in-situ hybridization (FISH) and chromosomal microarray (CMA). In addition, he reported that Saphyr data yielded a substantial amount of clinically relevant insights that go beyond the results with traditional methods. Dr. Kolhe analyzed five samples at two separate locations to evaluate site-to-site reproducibility and optical genome mapping showed 100% inter-site, inter-operator and inter-instrument reproducibility, with 100% data concordance between the sites. He reported that LDTs developed on Saphyr have an advantage because of reduced hands-on time compared to conventional methods, faster turn-around time, lower cost compared to the combination of standard methods, and overall provide actionable information that is faster and less expensive.

Laila El Khattabi, PharmD PhD, Associate Professor at the University of Paris, presented on her previously published clinical validation study with Saphyr on 85 samples, a collaboration between three hospitals in France and one in the Netherlands. Her study consisted of patients with intellectual disability, infertility, a family history of genetic abnormalities, and prenatal samples. The 85 samples carried a total of 100 chromosomal abnormalities of various types. She concluded that Saphyr is 100% concordant with the combination of the standard cytogenetic tools, with an easier technical and analytical process, better resolution of breakpoints allowing for the identification of affected genes, and an easier interpretation because there is no overload of irrelevant sequence variants of unknown significance, which is common with sequencing.

Peter L. Nagy, MD, PhD, founder and CMO of Praxis Genomics explained how he uses Saphyr and next-generation sequencing instead of a long list of analytical techniques such as karyotyping, chromosomal microarray, gene and panel sequencing and repeat testing to achieve better and faster results. Dr. Nagy showed many examples of variants detected by Saphyr, including the expansion of a repeat in the DM1 gene that causes Myotonic Dystrophy, a severe muscle disease, and explained that the repeat can be so long that no other technology can provide the sizing accurately. In his study, Saphyr also detected the repeat expansion that causes Fragile X Syndrome. Currently, testing for Fragile X is recommended for all children with intellectual disability and requires a separate test, while Saphyr measures this repeat on all samples.

Minyue Dong, MD, PhD, Director of the Department of Reproductive Genetics at Zhejiang University in China, presented on a case of a family with two pregnancies in which the fetuses showed severe brain malformations. Exome sequencing found a variant inherited from the father, but that finding alone couldn't explain the disease. Saphyr found a tandem duplication disrupting the same LAMA1 gene, inherited from the mother. Both variants combined disrupt both copies of the gene, causing the disease.

Dr. Hayk Barseghyan, Professor at George Washington University in Washington, DC, uses Saphyr at Children’s National Hospital to study patients with Disorders of Sex Development and other undiagnosed genetic disease. Dr. Barseghyan presented on six cases solved with Saphyr, some including structural variants that had never before been reported in any genomic variant database. His work was an excellent example of how OGM with Saphyr may result in more patients receiving definitive diagnoses and more patients being managed effectively as the result of a higher diagnostic yield with Saphyr.

The symposium continues throughout the week. The full schedule of speakers and registration access is available at

About Bionano Genomics
Bionano 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, and 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 or

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: the timing and content of the presentations identified in this press release; the effectiveness and utility of Bionano’s technology in basic genetic research and clinical settings, and in the contexts and applications contemplated by the presentations identified in this press release; adoption of Saphyr as a standard platform in research and pathology settings; 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, 2019 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.


Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610

Investor Relations Contact:
Ashley R. Robinson
LifeSci Advisors, LLC
+1 (617) 430-7577

Media Contact:
Darren Opland, PhD
LifeSci Communications
+1 (617) 733-7668

Data & News supplied by
Stock quotes supplied by Barchart
Quotes delayed at least 20 minutes.
By accessing this page, you agree to the following
Privacy Policy and Terms and Conditions.