Data Presented at European Society of Human Genetics (ESHG) Conference Shows Saphyr System has 100% Concordance with Standard Cytogenetics in Leukemias and Constitutional Aberrations

ESHG Speaker Calls Bionano Data “a Cytogenetics Revolution”

  • Multiple presentations at the European Society of Human Genetics show 100% concordance to gold-standard cytogenetic testing
  • Saphyr detected/solved previously unidentified genetic mutations
  • New uses for solid tumors being explored, data to be presented Friday, June 12
  • Making continued progress on goal to become the new standard of digital cytogenetic testing

SAN DIEGO, June 11, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ: BNGO) today announced that three top cytogeneticists from leading institutions in The Netherlands and Germany presented data at the 2020 European Society of Human Genetics (ESHG) Virtual Conference showing 100% concordance between the Saphyr system and standard cytogenetic tests.

Summary of ESHG Data presentations showing 100% concordance with manual cytogenetic techniques:

StudySample size /
ConcordanceSpecial findings
Hoischen et al.48 (oncology)100% Supportive that Saphyr has the potential to replace manual cytogenetics
Hoichsen et al2 (unsolved genetic drivers)Superior to standardIdentified causative genetic structural variants previously undetectable
Heinrich et al19 (genetic disease)100% Identified complex genetic structural variants previously prolonged work-up and investigation
Neveling et al40 (genetic disease)100% Full detection of multiple highly complex cytogenetic mutations

The three separate presentations compared data generated with Bionano’s Saphyr system against gold standard cytogenetic methods consisting of karyotyping, FISH, and/or chromosomal microarray in patients with leukemias and a variety of constitutional or inherited genetic disorders.

In the first presentation, Dr. Alexander Hoischen from Radboud University Medical Center provided an update on his work on leukemias, which has been published, and showed 100% concordance between Bionano’s Saphyr system and standard cytogenetic tests on 48 leukemia genomes. Additionally, he presented two research cases of families with undiagnosed genetic disorders, which were solved using the Saphyr system. The first case was on a rare and aggressive childhood tumor named Atypical Teratoid Rhabdoid Tumor (ATRT), which is typically caused by an inherited mutation in the SMARCB1 gene. Saphyr detected an insertion in this gene in a family affected by ATRT, while Sanger sequencing, MLPA, whole exome and whole genome sequencing had failed to identify this variant. In a second family affected by intellectual disability, Saphyr identified a single de novo deletion in the child affecting the NSF gene. This deletion was confirmed to be de novo in the child through PCR validation. Dr. Hoischen concluded his presentation saying that Saphyr has the potential to replace classical cytogenetics methods, is able to detect hidden structural variants missed with all available NGS approaches, and may allow a cytogenetics revolution.

In the second presentation, Dr. Uwe Heinrich, head of cytogenetics at MVZ Martinsried in Germany, presented six cases of patients with a variety of genetic disorders, with symptoms such as male infertility, microcephaly, developmental delay, seizures, and pigment anomalies. In all six cases, the Saphyr system identified the pathogenic variants, including balanced and unbalanced translocations, a paracentric inversion and mosaic duplication. In total 19 patient samples were analyzed, and the Saphyr system confirmed all known large rearrangements in these samples. Dr. Heinrich concluded that his team is planning to seek German accreditation for the Saphyr system this fall, to start offering Bionano’s genome imaging as part of a stepwise diagnosis, and to eventually fully replace chromosomal microarray with the Saphyr system.

In the third presentation, Dr. Kornelia Neveling from Radboud University discussed how Bionano improves structural variant detection for constitutional chromosomal aberrations. She compared the performance of Saphyr against standard cytogenetic methods in 40 samples with a variety of constitutional aberrations including deletions, duplications balanced and unbalanced translocations, inversions, ring chromosomes and aneuploidies in patients with intellectual disabilities and recurrent miscarriages. The Saphyr system showed 100% concordance with cytogenetic methods in these 40 samples and allowed for precise breakpoint mapping. Dr. Neveling plans to combine her data with a French multi-center study as part of the first international consortium to validate Saphyr-generated data for constitutional cytogenetic analysis. The combined study is expected to be submitted for publication during the second half of 2020, with results expected to be presented in a subsequent webinar.

Later this week, Dr. Brandon LaBarge from Penn State Health and Penn State College of Medicine are scheduled to present research demonstrating the use of the Saphyr system to identify structural rearrangements in a variety of solid tumors. The talk entitled “Genome imaging of head and neck solid tumors: oropharyngeal, tongue, and thyroid cancers,” is being hosted by LabRoots and is scheduled to take place on Friday, June 12, 2020 at 11 am ET. The presentation will be webcast, registration is available at

Thought leaders at MVZ Martinsried and Radboud are applying for German and Dutch accreditation, respectively, of Saphyr and preparing to add it to their diagnostic menus. Bionano is working with many centers in Europe and North America in an effort to enable large scale adoption of the Saphyr platform for clinical diagnosis in cancer and genetic disease.

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented: “We are delighted with the impressive results regarding Bionano’s Saphyr system at this year’s ESHG meeting. Preliminary data from ongoing studies on leukemias and solid tumors demonstrated that Saphyr detected high-complexity structural variants, several of which had not been discoverable using current manual-testing methods. Saphyr has the potential for greater accuracy, lower manual labor needs, and faster times to diagnosis. Our vision is to establish Saphyr as the preferred cytogenetics testing platform. Saphyr is already being used in the US as a validated test for a genetic disease. We believe the data presented at ESHG could serve to expand validation in Europe. As studies accelerate, labs that have developed assays on Saphyr for use in the clinic are working out their plans for reimbursement according to their local requirements.”

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. Bionano’s Saphyr system is 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 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. For more information, visit

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 significance of data generated by the Saphyr system, including its potential to revolutionize cytogenetic testing; anticipated release of new data and presentations supporting use of the Saphyr system as an effective tool for cytogenetic analysis; the form, content and nature of such data and presentations; our efforts to drive adoption within Europe and North America; and the benefits of the Saphyr system relative to traditional cytogenetic testing 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 that the nanopore technology covered by our patent may not be as effective as expected, as well as 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 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:
Kirsten Thomas
The Ruth Group
+1 (508) 280-6592

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.