Bionano Genomics announces the publication of an interim statement

An ongoing IRB-approved multi-site study evaluated 331 sets of individual samples from 202 unique samples at 5 sites for provisional measurements of key parameters:

  • Standard of Care Agreement (SOC) – 97.7% [214 out of 219 samples]
  • Partially concordant with SOC – 2.3% [5 out of 219 samples]
  • SOC concordance for pathogenic variant calls – 100% [219 out of 219 samples]
  • Chromosome microarray concordance (MAC) – 100% [103 out of 103 samples]
  • First pass success rate for GMOs – 94% [311 out of 331 samples]
  • Reproducibility of analytical QC from one site to another – 98.8% [171 out of 173 replicates]
  • Reproducibility of pathogenic variant calls from one site to another – 100% [173 out of 173 replicates]

SAN DIEGO, January 10, 2022 (GLOBE NEWSWIRE) – Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping (GMO) solutions on the Saphyr® N system and providerXClinical ™, the leading software solutions for visualization, interpretation and communication of genomic data, today announced the publication of the first reading of the ongoing clinical trial designed to support the establishment of the GMO in the standard of care (SOC) framework in the diagnosis of genetic diseases for postnatal patients. This publication reports on the diagnostic component of postnatal genetic diseases of Bionano’s study to assess GMOs as an alternative to SOC workflows in four key clinical areas: prenatal and postnatal genetic diseases, hematologic malignancies and solid tumors. . The studies will compare GMO to SOC, including concordance, reproducibility, technical success rates, turnaround time (TAT), diagnostic yield, health economics, and patient outcomes. This first intermediate reading is designed to assess parameters related to analytical performance in key areas of technical performance and reproducibility of the GMO.

“The process of establishing a trial program with a consortium like this is made possible by knowledgeable principal investigators and leading sites,” commented Alka Chaubey, PhD, FACMG, Chief Medical Officer of Bionano . “We believe the trial has started well, with a total of 813 subjects enrolled to date and, as the intermediate reading of 202 subjects and 331 samples shows, GMO has performed well. We look forward to investigators proceeding with the remaining samples and assessing other critical parameters such as comparative diagnostic yields, turnaround times, and economic health impacts. “

Study design
The study is an Institutional Review Board approved, double-blind, multicenter trial with 202 clinical research subjects analyzed in a total of 331 sample sets. All samples had been previously tested with traditional methods such as karyotyping, fluorescence in situ hybridization (FISH) and chromosome chip (CMA). Samples were from cases with genetic diagnosis (152), cases without genetic diagnosis (6) and controls (44).

The sites carrying out the study and their main investigators are as follows:

  • University of Rochester Medical Center (Dr M. Anwar Iqbal)
  • Medical College of Wisconsin (Dr Ulrich Broeckel)
  • Columbia University Medical Center (Dr Brynn Levy)
  • Greenwood Genetic Center (Dr Roger Stevenson)
  • Georgia Medical College, Augusta University (Dr Ravindra Kolhe)
  • Praxis Genomics (Dr Peter L. Nagy)
  • University of Iowa Health Clinics (Dr. Aaron Bossler)

Main conclusions
This publication describes GMO performance metrics such as first pass success rate and site-to-site, operator-to-operator, and cycle-to-cycle reproducibility for the very first. times and for the largest number of samples studied with GMOs to date.

The main findings for the technical parameters were reported as follows:

  • Agreement with SOC – 97.7% [214 out of 219 samples]
  • Partially concordant with SOC – 2.3% [5 out of 219 samples]
  • SOC concordance for pathogenic variant calls – 100% [219 out of 219 samples]
  • Agreement with CMA – 100% [103 out of 103 samples]
  • First pass success rate for GMOs – 94% [311 out of 331 samples]
  • Reproducibility of analytical QC from one site to another – 98.8% [171 out of 173 replicates]
  • Reproducibility of pathogenic variant calls from one site to another – 100% [173 out of 173 replicates]

Key points to remember
The publication concluded that these results demonstrate high technical performance of the GMO workflow from DNA isolation to data analysis. The authors reported that the performance of the replicates demonstrates the reproducibility of the GMO, suggesting that it can be adapted and validated. The authors further pointed out that GMO is not limited to the analysis of copy number variation, but can also solve balanced structural rearrangements, repeated size expansions like FMR1 and repeat the contractions as D4Z4. In summary, the authors concluded that a unique approach, like GMO, can enable genetics labs to deliver rapid results with a cost-effective solution, which can benefit both the lab and those affected.

“The OGM community is evaluating the entire workflow. The performance we have seen is in line with our expectations and we are delighted with this publication announcing that GMO is performing well at multiple sites, ”commented Erik Holmlin, PhD, President and CEO of Bionano. “5 I look forward to seeing the outcome for all test subjects on the remaining endpoints. We believe we can change the standard of care in genetic testing with GMOs and these studies can provide important supporting data. “

The full publication can be viewed online at https://www.medrxiv.org/content/10.1101/2021.12.27.21268432v1

For more information on GMOs and its application in genetic diseases and cancer, attend Symposium 2022, Bionano’s event for the GMO community. The symposium begins today January 10 and will run until Thursday January 13. For more information, visit www.bionanogenomics.com and a link to register for Symposium 2022 is available at https://www.labroots.com/ms/virtual- event / bngo2022.

About Bionano Genomics

Bionano Genomics is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to difficult 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 tests for patients with clinical presentations consistent with autism spectrum disorders and other neurodevelopmental disorders. Through its BioDiscovery business, the Company also offers an industry-leading, platform-independent software solution that integrates next-generation DNA sequencing and microarray data designed to provide analysis, visualization, interpretation and analysis. ratio of copy number variants, single nucleotide variants and absence. of heterozygosity across the genome in a consolidated view.

For more information visit www.bionanogenomics.com, www.lineagen.com Where www.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” , “Intend to” and similar expressions (as well as other words or expressions referring to future events, conditions or circumstances) convey the 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, analysis or current expectations regarding, among others: the reproducibility of the GMO technique and its ability to be readily adapted and validated; the ability of the Bionano clinical trial to support the establishment of the GMO under SOC and successfully measure critical parameters by comparing the GMO to SOC; and the possibility of GMOs generally being part of the SOC. 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 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, including the introduction of competing technologies or improvements in existing technologies; the failure of future study results to support those demonstrated in the publication referenced in this press release; changes in our strategic and business plans; our ability to secure sufficient funding to fund our strategic plans and marketing efforts; the ability of medical and research institutions to secure funding to support the adoption or continued use of the GMO or our technologies; 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 fiscal year ended December 31, 2020 and in other documents 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 on which they were made and are based on management’s assumptions and estimates as of that date. We assume no obligation to publicly update any forward-looking statements, whether as a result of receipt of new information, the occurrence of future events, or otherwise.

CONTACTS
Company details :
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
[email protected]

Investor Relations:
Amy conrad
Juniper hint
+1 (858) 366-3243
[email protected]

Media Relations:
Michael sullivan
Seismic
+1 (503) 799-7520
[email protected]

Jacob L. Thornton