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Bionano Announces Peer-Reviewed Publication from its Clinical Study Designed to Support OGM as Part of Standard of Care (SOC) in Genetic Disease Testing
Peer-reviewed publication from Broeckel, et al. describes the second phase of a multisite evaluation of optical genome mapping (OGM) in 627 samples (597
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"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 studyConcordance 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...