Bionano Publishes Interim Readout From Second Phase Of Clinical Trial Analyzing Optical Genome Mapping As Standard Of Care For Prenatal Testing

Author: Benzinga Newsdesk | January 24, 2024 09:13am

• 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 methods
• OGM 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 2022
• Phase 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 assay
  • A 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

Posted In: BNGO