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Bionano Announces Publication of Interim Readout from Second Phase of Clinical Trial Analyzing Optical Genome Mapping as Standard of Care (SOC) for Prenatal Testing
Pre-print publication from Levy, et al. describes the second phase of a multisite evaluation and validation of optical genome mapping (OGM) that is designed
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"Pre-print publication from Levy, et al. describes the second phase of a multisite evaluation and validation of optical genome mapping (OGM) that is designed to measure the workflow’s accuracy and clinical utility compared to classical cytogenetic methodsOGM data from 342 unique cases (419 datapoints) were analyzed and reported in the pre-print, including 123 samples from phase 1 of the study, which was reported in a pre-print publication in December 2022Phase 2 results show that OGM demonstrates comparable results to classical cytogenetic methods, with sensitivity of 99.2%, specificity of 100%, overall accuracy of 99.6% and overall concordance of 100%Phase 2 of the study also showed that for 215 out of 219 cases (98%) where at least two classical methods were required to meet the current standard of care (SOC) in prenatal constitutional genetic testing, a single OGM analysis was sufficient to meet the same standard. 59 out of 219 cases (27%) used three classical cytogenetic methods to meet the SOC and OGM was again sufficient with just a single assayA key conclusion of the authors is that OGM may serve as a stand-alone and promising alternative assay in prenatal diagnosis, distinct from classical cytogenetic methods, due to its performance and its ability to identify all classes of relevant structural variants (SVs) on a genome-wide basis and at high resolution SAN DIEGO, Jan. 24, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the publication of the second interim report from an ongoing clinical trial designed to support establishing OGM as part of standard of care (SOC) 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. Study DesignThe study is an Institutional Review Board (IRB)-approved, multicenter, double-blinded trial with samples from 219 unique retrospective (57) and prospective (162) clinical research subjects. All samples had been previously tested with traditional methods including karyotyping (KT), fluorescence in situ hybridization (FISH) and chromosomal microarra...