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Bionano Announces Two Publications from its Clinical Study Designed to Support OGM as Part of Standard of Care (SOC) in Genetic Disease Testing including the First Peer-Reviewed Publication on the Multi-Site Evaluation of OGM Against SOC
Peer-reviewed publication from Iqbal, et al. describes the multi-site evaluation of optical genome mapping (OGM) for postnatal genetic disorders with 404
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"Peer-reviewed publication from Iqbal, et al. describes the multi-site evaluation of optical genome mapping (OGM) for postnatal genetic disorders with 404 samples and shows: Concordance of OGM against various standard of care (SOC) methods –99.5% [399 out of 401 samples]First-pass success rate for OGM – 90.2% [369 out of 409 samples]Overall success rate – 98.8% [404 out of 409 samples]Inter- and intrasite repeatability –100% Pre-print publication from Broeckel, et al. describes the multi-site evaluation of OGM in an additional 560 unique samples, with a total of 749 unique samples to-date from 1,037 datapoints and shows: Concordance for all combined samples against SOC methods – 99.6% [746 out of 749 samples]For a subset of 79 prospectively collected samples from patients suspected of a genetic disorder, SOC had reportable findings in 19 cases [24%]; OGM had reportable findings in 27 cases [34%], corresponding to a 42% increase in the number of cases with reportable findings when OGM was usedFor another subset of cases consisting of 135 retrospectively collected samples from patients suspected of autism spectrum disorders (ASD), SOC found reportable variants in 63 samples [46%]; OGM identified reportable variants in 83 samples [61%] corresponding to a 32% increase in the number of cases with reportable findings when OGM was used SAN DIEGO, March 02, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), today announced two publications detailing results from the clinical trial 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 trial is designed to compare OGM to SOC, including concordance, reproducibility, technical success rate and the rate of detecting reportable findings in cases. A peer-reviewed publication covered an interim readout of the study, which showed OGM’s high technical performance and reproducibility across sites versus SOC analysis. The preprint publication extended the study to additional patients and measured the rate of detecting reportable findings by OGM compared to that of SOC methods in analysis of samples from individuals with neurodevelopmental disorders, including developmental delay, intellectual disability and autism spectrum disorder (ASD). The sites conducting the study and their pr...