Key findings from the evaluation of 59 heme samples and 10 controls:
- OGM detected 162/164 SV detected by standard cytogenetic methods of karyotyping and FISH
- GMO detected missed chromosomal aberrations by karyotyping and FISH in 35 cases
- GMO sensitivity: 98.7%
- GMO specificity: 100%
- Positive predictive value: 100%
- Negative predictive value: 98%
- GMO accuracy: 99.2%
- First pass success rate: 100%
- Limit of detection (LOD) for aneuploidies, translocations, interstitial deletions and duplications at 400X: 5% variant allele fraction
SAN DIEGO, March 18, 2022 (GLOBE NEWSWIRE) — Bionano Genomics, Inc. (Nasdaq: BNGO), pioneering optical genome mapping (OGM) solutions on the Saphyr® system and provider of NXClinical™, the leading software solution for visualizing, interpreting and reporting genomic data, today announced the publication of results from a comprehensive study validating the GMO for use in routine production for variant detection. genome-wide structural (SV) in hematological neoplasms.
This study, published by researchers from Emory University, Augusta University and Bionano, reported that GMO demonstrated robust performance on several technical and analytical parameters and recommended GMO as a potential cytogenetic test of first level for the evaluation of hematological neoplasms. These results confirm the potential for using GMOs in contexts where standardization is essential, such as clinical trials, and may help characterize genomic variants in hematological malignancies to stratify subjects or identify new therapeutic targets.
The researchers used 69 unique samples composed of 59 hematological neoplasms (CLL, AML, MDS, MM, lymphoma, PCM, CML, ET and others*) and 10 phenotypically normal and cytogenetically negative samples for controls. The 59 hematological neoplasms included 43 simple cases and 16 complex cases, which included all classes of VS.
In the 59 heme samples, GMO showed 98.7% sensitivity and 100% specificity for detection of previously reported SVs with karyotyping and fluorescence in situ hybridization (FISH). Additionally, 35 of the 43 simple cases had at least one clinically flagged aberration, and OGM detected all flagged variants, found additional aberrations in 23 cases, and corrected putative false positive results in two of the cases. In complex cases, GMO revealed the identity of 12 marker chromosomes and one ring chromosome and found additional SVs, including 145 translocations and 67 putative new gene fusions.
To assess technical and analytical reproducibility, between-run, within-run and between-instrument comparisons were performed on six samples in triplicate. OGM demonstrated 100% reproducibility and 5% LoD for aneuploidies, translocations, interstitial deletions and duplications at 400x coverage.
“Increasingly, the available body of evidence on GMO performance in hematological malignancies demonstrates high performance and utility, but this study put GMO performance to the test in an analytical environment. more routine,” said Alka Chaubey, PhD, FACMG, Chief Medical Officer at Bionano and one of the study authors. “GMO has met or exceeded all laboratory-tested quality measures.”
Erik Holmlin, PhD, President and CEO of Bionano commented, “This study shows the possibilities of GMOs and why laboratories around the world are embracing them. The Augusta team is one of the most experienced in the practice of GMOs and so we see this performance as setting a bar that others can aim to achieve. We are excited to work with the market and our own service lab and look forward to seeing these results delivered consistently across our installed base. »
This publication is available at: https://www.medrxiv.org/content/10.1101/2022.03.14.22272363v1
*Chronic lymphocytic leukemia (CLL), acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), multiple myeloma (MM), plasma cell myeloma (PCM), myeloproliferative disorder (MPD), chronic myeloid leukemia (CML), essential thrombocythemia (ET) )
About Bionano Genomics
Bionano Genomics is a provider of genome analysis solutions that can enable researchers and clinicians to find answers to complex questions in biology and medicine. The company’s mission is to transform the way the world views the genome through GMO solutions, diagnostic services and software. The company offers GMO solutions for applications in basic, translational and clinical research. Through its Lineagen business, the company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorders and other neurodevelopmental disorders. Through its BioDiscovery business, the company also offers a cutting-edge, platform-independent software solution that integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and a report of copy number variants, single nucleotide variants and absence of heterozygosity across the genome in a consolidated view. For more information, visit bionanogenomics.com, lineagen.com Where biodiscovery.com.
Bionano Genomics 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” ,” “believe” and similar expressions (as well as other words or phrases that refer to future events, conditions or circumstances) convey uncertainty of future events or results and are intended to identify such forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyzes or current expectations regarding, among other things, GMO’s performance across measures, its ability to meet regulatory standards and to operate in contexts where standardization is essential, expectations as to additional evidence in support of the GMO, expectations for the installed base to consistently provide results similar to those of the study referenced in this press release press, and the potential for the GMO to become the standard of care in testing for hematological neoplasms. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied by such forward-looking statements. Factors that could 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 technologies or enhancements to existing technologies; the article referenced in this press release has not been peer reviewed, has not been finalized by the authors, may contain errors and reports information that has not been accepted by the scientific or medical community and are therefore subject to change; the failure of future study results to support those demonstrated during the study referenced in this press release; changes in our strategic and business plans; our ability to obtain sufficient financing to fund our strategic plans and marketing efforts; the ability of medical and research institutions to obtain funding to support the adoption or continued use of our technologies; and the risks and uncertainties associated with our business and financial condition generally, 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, 2021 and in other filings subsequently filed by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date they were made and are based on management’s assumptions and estimates as of that date. We undertake no 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.
Erik Holmlin, CEO
Bionano Genomics, Inc.
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