Bionano Genomics announces publication of results from OGM trial

Bionano Genomics announced two publications detailing results from the clinical trial designed to support establishing optical genome mapping as part of the standard of care 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.The peer-reviewed publication describes OGM performance metrics like first pass success rate and reproducibility from site-to-site, operator-to-operator and run-to-run for the first time ever and for the largest number of samples investigated with OGM to date. Key findings were reported as follows: Unblinded concordance with standard of care; Partially concordant with SOC – 0.5%; Blinded concordance with SOC – 97.6%; First-pass success rate for OGM – 90.2%; Overall success rate – 98.8%; 100% agreement on Fragile X syndrome calls for "full expansion or not full expansion" in 401 samples; The pre-print publication describes OGM performance metrics compared to SOC methods for challenging samples from diagnosed and undiagnosed rare diseases. Key findings were reported as follows: Concordance for all combined samples against SOC methods – 99.6%; 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, corresponding to a 42% increase in the number of cases with reportable findings when OGM was used; For another subset of cases consisting of 135 retrospectively collected samples from patients suspected of autism spectrum disorders, SOC found reportable variants in 63 samples; OGM identified reportable variants in 83 samples corresponding to a 32% increase in the number of cases with reportable findings when OGM was used. Authors of the peer-reviewed publication concluded that study results demonstrate the high technical performance of the OGM workflow for postnatal samples. The authors reported that intersite, interrun, and intrarun performance demonstrates the reproducibility of the OGM workflow, suggesting the potential for easy adoption and validation. The authors further underscored that OGM is not limited to copy number variation analysis alone, but can also resolve balanced structural rearrangements, size repeat expansions like FMR1 and repeat contractions like D4Z4 and noted that OGM identified additional variants that were undetected by SOC. In summary, the authors concluded that a single approach, like OGM, can allow genetic laboratories to provide rapid results with a cost-effective solution. The pre-print publication results demonstrate the potential of an OGM workflow to detect all classes of SVs with higher resolution, including aneuploidies, triploidy, translocations, inversions, insertions, microdeletions, microduplications, nucleotide repeat expansions or contractions, and absence of heterozygosity. In contrast to variants of uncertain significance that are detected by microarray, which are limited to gains and losses, the VUSs reported by OGM include multiple types of SVs, several of which reside in candidate genes associated with the phenotype. The authors concluded that OGM can offer a simple and streamlined workflow that can detect relevant genomic aberrations and mitigate the need for numerous testing platforms and time-consuming wet lab work, potentially improving lab performance by reducing the associated time and costs.