Largest Study To-Date Focused on Undiagnosed Genetic Disease Patients Reveals That Bionano’s Optical Genome Mapping Technology Can Diagnose Significantly More Patients Than Standard of Care Methods Alone
Bionano Genomics announced the publication of a study from UCSF demonstrating its optical genome mapping technology's superiority over whole exome sequencing (WES) and chromosomal microarray (CMA) in diagnosing rare genetic disorders. In a cohort of 50 patients, the technology provided definitive diagnoses for 12% and identified candidate pathogenic variants in 20% of cases. The study indicates Bionano's Saphyr system could enhance patient diagnosis rates, favoring widespread adoption of its genetic analysis tools in clinical settings.
- Optical genome mapping diagnosed 12% of patients definitively.
- Identified candidate pathogenic variants in 20% of patients.
- Potentially increases diagnostic rates compared to WES and CMA.
- Study involved only 50 patients, limiting generalizability.
- Further analysis required for some identified variants.
Publication from UCSF shows Bionano’s optical genome mapping technology can detect pathogenic variants missed by whole exome sequencing and by chromosomal microarray in patients with rare genetic disorders and may contribute to more patients receiving definitive molecular diagnoses
SAN DIEGO, Nov. 05, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a study led by scientists and clinicians from the Institute for Human Genetics and the Benioff Children’s Hospital at the University of California, San Francisco (UCSF) that evaluated the ability of Bionano’s optical genome mapping technology and another genome analysis method to diagnose children with genetic conditions who previously went undiagnosed by the standard of care methods alone. Of the 50 children in the study, the optical genome mapping results were sufficient to definitively diagnose 6 patients (or
Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, “Increasing the number of patients who receive a definitive molecular diagnosis is the driving force behind much of the development of new diagnostic technologies. Every major change in medical guidelines connected to introducing novel methods has been driven by the ability of new methods to diagnose more patients than the previously existing standard of care. This study by the UCSF team shows that Bionano’s optical genome mapping can potentially bring another such leap to the clinic by diagnosing many more patients than what existing chromosomal microarray (CMA) and whole exome sequencing (WES) can. Several studies released this year have shown that Saphyr can detect all clinically relevant variants identified by karyotyping, microarray and FISH in both leukemias and genetic disease cases. This UCSF study now shows in the largest cohort analyzed to date that Bionano’s optical genome mapping diagnoses more patients than the traditional methods. We believe the increase in diagnosis over conventional methods can be a significant factor in Saphyr gaining widespread adoption as a clinical tool for genetic disease diagnosis and next-generation cytogenomics.”
As described in the publication, the UCSF team performed full genome analysis by combining optical genome mapping with Bionano technology and linked-read sequencing on 50 undiagnosed patients with a variety of rare genetic diseases and their parents to determine if this full genome analysis method could help solve cases that had not been diagnosed with previous testing. Of the 50 cases, 42 were previously analyzed by CMA, the first tier medical test for genetic disease cases, and 23 had previously been analyzed with commercial trio whole exome sequencing, and no pathogenic or likely pathogenic variants were identified by these methods.
Bionano’s optical genome mapping technology identified a number of pathogenic variants unidentified by CMA and undetectable by WES, including duplications and deletions that were too small to be identified by CMA, or occurred in regions of the genome not typically covered by CMA or WES. Of the additional 7 patients with variations considered to be candidates for pathogenic variants, the findings included deletions, duplications, and inversions. Before concluding that these variants are sufficient to diagnose the patients, further analysis is required since these variants had not previously been reported in patients with similar disease.
The publication is available at: https://www.medrxiv.org/content/10.1101/2020.10.22.20216531v1
A recording of the webinar is available at: https://bionanogenomics.com/webinars/optical-mapping-in-rare-genetic-disease-diagnosis/
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 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 www.bionanogenomics.com or www.lineagen.com.
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 contribution of Bionano’s technology to the diagnosis of more genetic disease patients when compared to traditional standard of care methods; the capabilities of Bionano’s technology in comparison to other genome analysis technologies; our expectations regarding the adoption of Saphyr as a clinical tool for genetic disease diagnosis and next-generation cytogenomics; and Bionano’s strategic plans. 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.
CONTACTS
Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionanogenomics.com
Investor Relations Contact:
Ashley R. Robinson
LifeSci Advisors, LLC
+1 (617) 430-7577
arr@lifesciadvisors.com
Media Contact:
Darren Opland, PhD
LifeSci Communications
+1 (617) 733-7668
darren@lifescicomms.com
FAQ
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