Bionano Genome Imaging Concordant with Traditional Cytogenetics in Landmark Leukemia Study

SAN DIEGO, Feb. 10, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that a team led by Dr. Alexander Hoischen from Radboud University Medical Center (RUMC) in the Netherlands reported the results of a successful validation study comparing the performance of Bionano Genomics’ Saphyr® system to traditional cytogenetic methods for the clinical analysis of leukemia genomes. The study, published in bioRxiv, found that Saphyr was 100% concordant with the standard of care for the detection of somatic chromosomal abnormalities.

Structural variants are important for cancer diagnosis, prognosis, and treatment decisions. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all cytogenetic aberrations requires a combination of techniques, such as karyotyping, fluorescence in situ hybridization and CNV-microarrays. The study set out to test if genome imaging by the Saphyr system could replace these expensive, labor-intensive and time-consuming combination of methods with a single, automated and streamlined workflow.

A total of 48 patient samples with a combination of myeloid and lymphoid leukemias, representative of the most common referrals to the RUMC clinic, were analyzed using standard cytogenetic analysis. All samples had an allele fraction of the pathogenic variants of at least 10%. 37 samples were considered simple and 11 samples were categorized as complex, based on the number of large structural abnormalities. When all 48 samples were subsequently analyzed with Bionano, the team was able to identify all previously reported aberrations. Bionano allowed for a better resolution and a more complete picture of complex aberrations. A complex chromothripsis structure was resolved unambiguously and in other cases, additional fusions were identified, or marker chromosomes of unknown origin were resolved. Generally, genome imaging results were more complete than all three individual previous tests and most likely delivered the true underlying genomic architecture.

The Radboud team pointed out that while the focus of the study was on determining the concordance for diagnostically reported variants, the Bionano technology also found novel variants. They identified 23 potential gene fusions of which only 4 were previously observed. Gene fusions are important prognostic markers in cancer and are routinely targeted for drug development. The Bionano study provided an impressive number of such potential biomarkers.

Alexander Hoischen, Ph.D., Associate Professor, Genomic Technologies and Immuno-Genomics at the Department of Human Genetics of RUMC, comments: “We are positively surprised by the smooth and fast implementation of the Saphyr system in our laboratory. Less than a year after training we now have successfully run more than 150 samples, including the 48 leukemia samples which we now present in this publication. Other samples include novel research findings for unsolved rare disease cases and known cytogenetic abnormalities which may validate the Saphyr system’s use for constitutional aberrations. We are excited about the very high concordance rate between Bionano technology and current standard of care methods and believe that this technology has the potential to revolutionize cytogenetics in the near future.”

Erik Holmlin, Ph.D., CEO of Bionano, commented, “At Bionano, our objective has been to develop the best genome analysis platform to identify structural variation, and it has long been a focus of ours to apply that capability for clinical diagnostics. We have focused on leukemias and lymphomas because the current standard of care consists of a complex combination of various outdated methods, and diagnostic labs, clinicians and patients would be better off if that was transformed. Many attempts have been made to replace cytogenetics using various flavors of short-read and long-read sequencing, and all have failed. This study helps confirm that our Saphyr platform is capable of revolutionizing cytogenetic testing and is the first of many such studies that we believe will demonstrate this utility.”

About Bionano Genomics
Bionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a 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 drive the adoption of digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools.

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, conclusions as to Saphyr’s potential as a powerful new tool in cytogenetics; Saphyr’s potential to improve or replace traditional cytogenetics methods for the comprehensive analysis of cytogenetic aberrations; Radboud University Medical Center’s plans to conduct further studies involving Bionano technology; our beliefs regarding the Saphyr system’s readiness for adoption as a routine tool in research and clinical settings and the effectiveness and utility of the Saphyr system in such settings; and our beliefs that future studies will continue to demonstrate Saphyr’s potential to revolutionize cytogenetic testing. 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 that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with 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 key clinical studies to demonstrate the effectiveness of our products; 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, 2018 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) 888-7600

Investor Relations Contact:
Ashley R. Robinson
LifeSci Advisors, LLC
+1 (617) 775-5956

Media Contact:
Kirsten Thomas
The Ruth Group
+1 (508) 280-6592

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