Bionano Genomics, Inc. announced the publication of the first readout from the ongoing clinical trial designed to support establishing OGM as part of standard of care (SOC) in diagnosis of genetic disease for postnatal patients. This publication reports on the postnatal genetic disease diagnostic arm of Bionano's study to evaluate OGM as an alternative to SOC workflows in four key clinical areas: prenatal and postnatal genetic diseases, hematologic malignancies and solid tumors. The studies will compare OGM to SOC, including concordance, reproducibility, technical success rates, turnaround time (TAT), diagnostic yield, health economics and patient outcomes.

This first interim readout is designed to evaluate endpoints connected to analytical performance in key areas of technical performance and reproducibility of OGM. Study Design: The study is an Institutional Review Board-approved, multicenter, double-blinded trial with 202 clinical research subjects analyzed in a total of 331 sample runs. All samples had been previously tested with traditional methods like karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray (CMA).

The samples were from cases with a genetic diagnosis (152), cases without a genetic diagnosis (6) and controls (44). The sites conducting the study and their principal investigators are as follows: University of Rochester Medical Center (Dr. M. Anwar Iqbal); Medical College of Wisconsin (Dr. Ulrich Broeckel); Columbia University Medical Center (Dr. Brynn Levy); Greenwood Genetic Center (Dr. Roger Stevenson); Medical College of Georgia, Augusta University (Dr. Ravindra Kolhe); Praxis Genomics (Dr. Peter L. Nagy); University of Iowa Health Clinics (Dr. Aaron Bossler). Key Findings: This 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 for the technical endpoints were reported as follows: Concordance with SOC – 97.7% [214 out of 219 samples]; Partially concordant with SOC – 2.3% [5 out of 219 samples]; Concordance with SOC for pathogenic variant calls – 100% [219 out of 219; samples]; Concordance with CMA – 100% [103 out of 103 samples]; First-pass success rate for OGM – 94% [311 out of 331 samples]; Reproducibility of analytical QC from site-to-site – 98.8% [171 out of 173 replicates]; Reproducibility of pathogenic variant calls from site-to-site – 100% [173 out of 173 replicates]. Key Takeaways: 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 copy number variation analysis alone, but can also resolve balanced structural rearrangements, size repeat expansions like FMR1 and repeat contractions like D4Z4. In summary, the authors concluded that a single approach, like OGM, can allow genetic laboratories to provide rapid results with a cost-effective solution, which can benefit both the lab and the affected individuals.