Bionano Genomics announces publication of interim readout from OGM trial

Bionano Genomics announced the publication of an 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 prenatal study focuses on comparing OGM to SOC, including concordance, reproducibility, technical success rates, turnaround time, diagnostic yield, and health economics. This first interim readout is designed to evaluate endpoints connected to analytical performance in key areas of technical performance and reproducibility of OGM. The study is an Institutional Review Board-approved, multicenter, double-blinded trial with samples from 123 clinical research subjects analyzed in a total of 200 sample runs to date. All samples had been previously tested with traditional methods like karyotyping, fluorescence in situ hybridization and chromosomal microarray. The samples were from cases with known pathogenic or likely pathogenic variants, cases with known variants of uncertain significance, cases with no known reportable variant and genomic controls. This publication describes OGM performance metrics like robustness and reproducibility from site-to-site, operator-to-operator and run-to-run for the first time ever and for the largest number of prenatal samples investigated with OGM to date. 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 SOC tests needed to reach a diagnosis in 56% of cases and to three separate SOC tests needed to reach a diagnosis in 19% of cases; Concordance with SOC – 100%; Concordance with SOC for variant calls – 100%; Reproducibility of analytical QC from site-to-site – 100%; Reproducibility of variant calls from site-to-site – 100%. The publication concluded that these results demonstrate high technical performance of the OGM workflow from DNA isolation through data analysis. The authors reported that replicate run performance demonstrates reproducibility of OGM, suggesting it can be adapted and validated. The authors further pointed out that OGM is not limited to structural variant and copy number variation analysis alone but can also resolve repeat expansions greater than 500bp. The authors also cited OGM’s ability to run an additional analysis pipeline for the screening of individuals with an expanded allele in the FMR1 gene that could be causative of Fragile X syndrome. Screening for this repeat expansion is currently performed as a separate SOC test. The authors concluded that a single approach, like OGM, can allow genetic laboratories to provide rapid results with a cost-effective solution.