Bionano Genomics Announces Publication of Interim Readout from the Consortium Conducting a Postnatal Clinical Trial Intended to Support Establishing Optical Genome Mapping as Part of Standard of Care in Genetic Disease Diagnosis
IRB-approved, multi-site, ongoing study evaluated 331 individual sample runs from 202 unique samples across 5 sites for interim measures of key endpoints:
- Concordance with standard of care (SOC) – 97.7% [214 out of 219 samples]
- Partially concordant with SOC – 2.3% [5 out of 219 samples]
- Concordance with SOC for pathogenic variant calls – 100% [219 out of 219 samples]
- Concordance with chromosomal microarray (CMA) – 100% [103 out of 103 samples]
- First-pass success rate for OGM – 94% [311 out of 331 samples]
- Reproducibility of analytical QC from site-to-site – 98.8% [171 out of 173 replicates]
- Reproducibility of pathogenic variant calls from site-to-site – 100% [173 out of 173 replicates]
“The process of establishing a trial program with a consortium like this one is made possible by capable principal investigators and leading sites,” commented
Study Design
The study is an
The sites conducting the study and their principal 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 ) Medical College of Georgia ,Augusta University (Dr.Ravindra Kolhe )- Praxis Genomics (Dr.
Peter L. Nagy ) University of Iowa Health Clinics (Dr.Aaron Bossler )
Key Findings
This publication describes OGM performance metrics like first pass success rate and reproducibility from site-to-site, operator-to-operator and run-to-run for the first time ever and for the largest number of samples investigated with OGM to date.
Key findings for the technical endpoints were reported as follows:
- Concordance with SOC – 97.7% [214 out of 219 samples]
- Partially concordant with SOC – 2.3% [5 out of 219 samples]
- Concordance with SOC for pathogenic variant calls – 100% [219 out of 219 samples]
- Concordance with CMA – 100% [103 out of 103 samples]
- First-pass success rate for OGM – 94% [311 out of 331 samples]
- Reproducibility of analytical QC from site-to-site – 98.8% [171 out of 173 replicates]
- Reproducibility of pathogenic variant calls from site-to-site – 100% [173 out of 173 replicates]
Key Takeaways
The publication concluded that these results demonstrate high technical performance of the OGM workflow from DNA isolation through data analysis. The authors reported that replicate run performance demonstrates reproducibility of OGM, suggesting it can be adapted and validated. The authors further pointed out that OGM is not limited to copy number variation analysis alone, but can also resolve balanced structural rearrangements, size repeat expansions like FMR1 and repeat contractions like D4Z4. In summary, the authors concluded that a single approach, like OGM, can allow genetic laboratories to provide rapid results with a cost-effective solution, which can benefit both the lab and the affected individuals.
“The OGM community is evaluating the whole workflow. The performance we have seen matches our expectations and we are happy with this publication announcing that OGM is performing well across multiple sites,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano. “Congratulations to this team for getting this paper published in 2021 and congratulations to
The full publication can be found online at https://www.medrxiv.org/content/10.1101/2021.12.27.21268432v1
For more information related to OGM and its application in genetic diseases and cancer, attend 2022 Symposium, Bionano’s event for the OGM community. Symposium starts today,
About
For more information, visit www.bionanogenomics.com, www.lineagen.com or www.biodiscovery.com.
Forward-Looking Statements of
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 reproducibility of the OGM technique and its ability to be easily adapted and validated; Bionano’s clinical trial’s ability to support establishing OGM as part of the SOC and to successfully measure critical endpoints comparing OGM to SOC; and the potential for OGM generally to become 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 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, including the introduction of competitive technologies or improvements in existing technologies; failure of future study results to support those demonstrated in the publication referenced in this press release; 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 OGM 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
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Source: Bionano Genomics