Bionano Announces Peer-Reviewed Publication From Its Clinical Study Designed To Support OGM As Part Of Standard Of Care In Genetic Disease Testing

Author: Benzinga Newsdesk | January 11, 2024 05:04pm

• Peer-reviewed publication from Broeckel, et al. describes the second phase of a multisite evaluation of optical genome mapping (OGM) in 627 samples (597 unique samples and 30 replicates)
  
   
• Overall, for the entire study, OGM data have been collected from 1,000 samples, including 404 samples from phase 1 of the study
• Concordance for pathogenic variants in all combined samples against standard of care (SOC) methods – 99.5% (995 out of 1,000 samples)
• When compared to the rate of finding pathogenic or likely pathogenic variants with SOC methods, OGM increased the rate by a factor of 6% to as much as 50% depending on the patient population

SAN DIEGO, Jan. 11, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ:BNGO), today announced a peer-reviewed publication detailing results from the second phase of a large multisite clinical study designed to support establishing optical genome mapping (OGM) as part of the standard of care (SOC) in diagnosis of genetic disease for postnatal patients. The clinical study is designed to compare OGM to current SOC techniques, including concordance, reproducibility, technical success rate and the rate of detecting reportable findings in cases. The published first phase of this multisite study demonstrated OGM's technical performance and reproducibility across sites versus SOC analysis. This second phase extended the study to include additional samples to further assess the technical performance and clinical utility of OGM for postnatal constitutional disorders and to evaluate OGM in prospective samples and in samples from subjects with neurodevelopmental disorders, including developmental delay, intellectual disability and autism spectrum disorder (ASD).

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 Hospitals & Clinics (Aaron Stence)
• H. Lee Moffitt Cancer Center (Dr. Aaron Bossler)

Key Findings

The peer-reviewed publication describes OGM performance metrics compared to SOC methods for challenging samples from diagnosed and undiagnosed rare diseases. The key findings are:

• OGM concordance for pathogenic variants in all combined samples against SOC methods was 99.5% (995 out of 1,000 samples).
• OGM increased the rate of finding pathogenic or likely pathogenic (P/LP) variants over that of SOC by a factor of 6% to as much as 50% depending on the patient population as outlined below:
  
  
  
   

Patient Population	Number of Samples	Number of Samples w P/LP findings by method		Improvement by OGM (%)
		SOC	OGM
Retrospectively collected samples from patients suspected of various genetic disorders	405	70 (17.3%)	91 (22.5%)	30	%
Retrospectively collected samples from patients suspected of ASD	216	32 (14.8%)	34 (15.7%)	6	%
Prospectively collected samples from patients suspected of a genetic disorder	94	5 (5.3%)	10 (10.6%)	50	%

Key Takeaways

The study authors reported that results demonstrate the ability of an OGM workflow to detect all classes of structural variants (SVs) with higher resolution compared to current SOC methods, including aneuploidies, triploidy, translocations, inversions, insertions, microdeletions, microduplications, nucleotide repeat expansions or contractions, and absence of heterozygosity (AOH). In contrast to variants that are detected by microarray, which are limited to gains and losses, the variants reported by OGM include all classes of SVs, several of which reside in candidate genes associated with the phenotype. The authors concluded that OGM can offer a simple and streamlined workflow that can detect relevant genomic aberrations and mitigate the need for numerous testing platforms and time-consuming wet lab work, potentially improving lab performance by reducing the associated time and costs.

"Development and validation of OGM assays for postnatal analysis is an area where we believe our technology can have tremendous global impact. The performance we have seen matches our expectations. We are extremely happy with this publication demonstrating OGM's performance across multiple sites and its potential ability to perform in a single assay what today requires multiple technologies," commented Erik Holmlin, PhD, president and chief executive officer of Bionano.

"The process of establishing a trial program like this one is made possible by capable principal investigators and leading sites," commented Alka Chaubey, PhD, FACMG, chief medical officer of Bionano. "We are pleased that these study authors concluded that OGM should be considered as a first-tier method of analysis for postnatal genetic disorders, and that their findings support the utility of a novel tool like OGM to help solve challenging cases in constitutional and rare diseases, including those involving pediatric intellectual disabilities and autism."

The publication is available at https://www.jmdjournal.org/article/S1525-1578(24)00004-7/fulltext#tbl1.

Posted In: BNGO