First Extensive Validation Study of Saphyr for Constitutional Genetic Disorders by European Consortium Shows 100% Concordance to Standard Cytogenetics and Describes Resolution of Cases of Long-Standing, Undiagnosed Disease

  • First large study in constitutional genetic diseases showed 100% concordance to gold-standard cytogenetic testing
  • In patients with leukemia, Saphyr enabled crucial discoveries including novel fusion events never described before in that disease
  • Saphyr solved previously unidentified genetic diseases by finding novel mutations
  • Making continued progress on goal to become the new standard of digital cytogenetic testing

SAN DIEGO, July 08, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that two top cytogeneticists from leading institutions in The Netherlands and France presented their research data as part of a multicentric, international effort to compare data generated with Bionano’s Saphyr system against gold standard cytogenetic methods consisting of karyotyping, FISH, and/or chromosomal microarray in patients with a variety of constitutional or inherited genetic disorders and in patients with leukemias. In back-to-back online presentations, each showed 100% concordance between Saphyr and standard cytogenetics along with other discoveries that extend the capabilities of the current standard of care.

Summary of data presentations:

StudySample size / indicationResultSpecial findings
European consortium (Cochin-Radboud-Lyon-Clermont Ferrand)85 (constitutional disorders)100% ConcordanceFull detection of multiple highly complex cytogenetic mutations
Radboud Medical Center20 (genetic mysteries)25% Additional YieldIdentified causative genetic structural variants
Radboud Medical Center48 (oncology)100% ConcordanceMany novel fusion genes discovered

In a webinar originally hosted by LabRoots on Friday, June 22, Dr. Laila El Khattabi from the Cochin Hospital in Paris, France discussed how Saphyr improved structural variant detection for constitutional chromosomal aberrations in her research. The data originate from an international multi-center effort between the hospitals of Paris-Cochin, Lyon and Clermont-Ferrand and the Radboud University Medical Center in the Netherlands, as part of the first international consortium to validate Saphyr for constitutional cytogenetic analysis. The consortium compared the performance of Saphyr against the combination of karyotyping, FISH and array-based methods in 85 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. Saphyr showed 100% concordance with gold standard methods in these 85 samples. Dr. El Khattabi expressed the consortium’s confidence in Saphyr’s potential to largely replace standard cytogenetic testing methods in the future. A manuscript describing the study results will be submitted for publication in the coming weeks.

Dr. Alexander Hoischen from Radboud University Medical Center described how Bionano genome imaging identified likely pathogenic variants in 25% of unsolved rare disease cases analyzed with Saphyr. Dr. Hoischen presented two of these research cases, which involved families with undiagnosed genetic disorders. The first case involved a rare and aggressive childhood tumor named Atypical Teratoid Rhabdoid Tumor (ATRT) in which Saphyr detected an insertion in the SMARCB1 gene in a family affected by ATRT, while MLPA and next generation sequencing were unable to identify this variant. In a family affected by intellectual disability, Saphyr identified a single de novo deletion affecting the NSF gene, undetected by chromosomal microarray, whole exome and whole genome sequencing and long read sequencing. This deletion was confirmed to be de novo in the child through PCR validation. Finally, Dr. Hoischen provided an update on his retrospective comparative study on leukemias, which he presented at ESHG 2020 and is expected to be submitted for peer-review publication in the near future. The study showed 100% concordance between Bionano’s Saphyr system and standard cytogenetics in 48 leukemia patients. Additionally, Saphyr identified novel events previously undetected by traditional cytogenetic methods, many of them being rare inter-chromosomal translocations causing gene fusions never described before, opening potential new avenues of research in precision medicine and drug development. Dr. Hoischen concluded that Saphyr has value in solving unanswered rare disease cases and has the potential to replace classical cytogenetics methods.

At the ESHG 2020 conference, Dr. Uwe Heinrich, representing MVZ Martinsried, Germany presented that Bionano was able to confirm all known large rearrangements in a cohort of patients with intellectual disability, developmental disorders and chromosomal aberrations. Drs. Hoischen and Heinrich announced that their respective teams are planning to seek accreditation for the Saphyr system, to start offering Bionano’s genome imaging as part of a stepwise diagnosis, and to subsequently replace chromosomal microarray with Saphyr altogether later on.

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented: “We previously demonstrated the notable performance of Saphyr in leukemia studies across the globe, but the international study presented by Dr. El Khattabi demonstrates that Saphyr performs equally well in genetic diseases such as intellectual disabilities and subfertility. Saphyr showed 100% concordance with traditional cytogenetic methods and made additional discoveries in both leukemia patients and in those with constitutional disorders. We believe that Saphyr is capable of replacing traditional cytogenetic methods and consolidating these outdated methods into a single digital platform that is faster, less expensive and has lower manual labor needs, while providing greater accuracy than these methods.”

A recording of the presentation by Drs. El Khattabi and Hoischen can be viewed 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. 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: our intentions, beliefs, projections, outlook, analyses or current expectations concerning the Saphyr System; the intended use of Saphyr by the institutions identified in this press release; expectations regarding the rate and extent of adoption of Saphyr in research and clinical settings; and the general effectiveness and utility of Saphyr, including its ability to replace traditional cytogenetic methods and enable discoveries that can contribute to treatment of disease. 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 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

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