Bionano Genomics announces publication of second interim report of trial on OGM

Bionano Genomics announced the publication of the second interim report from an ongoing clinical trial designed to support establishing OGM as part of standard of care in diagnosis of genetic disease for prenatal subjects. This publication reports on the prenatal genetic disease clinical trial program to evaluate OGM as an alternative to SOC workflows. This second interim readout is designed to evaluate endpoints connected to analytical performance using an expanded dataset in key areas of technical performance and clinical utility of OGM. The study is an Institutional Review Board-approved, multicenter, double-blinded trial with samples from 219 unique retrospective and prospective clinical research subjects. All samples had been previously tested with traditional methods including karyotyping, fluorescence in situ hybridization and chromosomal microarray. Key Findings: This publication describes OGM performance metrics including performance, robustness and reproducibility in prenatal samples when compared to SOC methods. Key findings for the technical endpoints were reported as follows: Results of OGM analysis were comparable, in a single assay, to the results of two separate standard of care tests needed to reach a diagnosis in 71.2% of cases and to three separate SOC tests needed to reach a diagnosis in 26.9% of cases. Compared to CMA, FISH and KT combined in this cohort, OGM had the following performance: Concordance: 100%; Sensitivity: 99.2%; Specificity: 100%; Positive Predictive Value: 100%; Negative Predictive Value: 95.5%; Overall accuracy: 99.6%. Key Takeaways: The publication concluded that these results demonstrate the technical performance and utility of the OGM workflow from DNA isolation through data analysis when compared to SOC methods. The authors noted that a single approach, like OGM, can allow genetic analysis laboratories to provide results that are comparable or even more informative than classical methods with a rapid cost-effective solution.