Bionano Highlights Johns Hopkins Study Showing OGM Surpassing Cytogenetic Assays in Tumor Analysis

In a significant development in cancer research, Bionano Genomics, Inc. has unveiled promising findings on the effectiveness of optical genome mapping (OGM) in analyzing bone and soft tissue tumors. This latest study, conducted by researchers at the Johns Hopkins University School of Medicine, and published in Modern Pathology, highlights OGM's superior capabilities compared to traditional cytogenetic methods.

The study stands as the most extensive investigation into the application of OGM in bone and soft tissue tumors to date. It reveals OGM's remarkable ability to detect 100% of the genetic variants identified by established techniques such as karyotyping, fluorescent in-situ hybridization (FISH), and gene fusion assays. Furthermore, OGM demonstrated a higher sensitivity, uncovering diagnostic or pathogenic variants in 74% of cases where karyotyping had either failed or reported negative results.

The integration of OGM with next-generation sequencing (NGS) proved particularly effective, identifying diagnostic and pathogenic structural variants (SVs), copy number variants (CNVs), and single nucleotide variants (SNVs) in approximately 98% of cases. This detection rate significantly surpasses the capabilities of using karyotyping, FISH, and NGS separately.

Key findings from the study emphasized OGM's comprehensive detection capabilities. It identified all variants that standard cytogenetic methods could detect, demonstrating 100% specificity. Notably, OGM also uncovered pathogenic variants that traditional karyotyping missed. In instances where karyotyping failed due to culture issues, OGM successfully identified pathogenic SVs in all cases. Among the variants detected by OGM but overlooked by standard methods was the EWSR1::ETV1 fusion, crucial for diagnosing clear cell sarcoma and differentiating it from other sarcomas and melanomas.

The study also highlighted OGM's proficiency in resolving complex cancer genomes. It successfully re-characterized intricate structural rearrangements, including chromoanagenesis, in 27% of cases. Moreover, OGM effectively defined complex translocations in 15% of cases compared to traditional methods.

Combining OGM and NGS not only enhanced detection rates but also showcased the potential for identifying actionable targets for therapy. The study authors noted that several OGM findings could qualify patients for targeted treatments or clinical trials. This includes therapies involving CDK4/6 inhibitors, TRK inhibitors, and pan-FGFR inhibitors.

Erik Holmlin, CEO of Bionano Genomics, highlighted the challenges faced by traditional cytogenetic methods, which often fail to provide actionable insights due to cultural issues or limited sensitivity and specificity. Holmlin expressed optimism about OGM's role as a valuable alternative, especially given the increasing evidence of its utility in blood cancers.

Bionano Genomics, known for its innovative genome analysis solutions, aims to transform genomic research and diagnostics through OGM technologies. Their mission is to enhance the understanding of the genome, providing solutions for basic, translational, and clinical research. Through their subsidiary, Lineagen, Inc., Bionano also offers OGM-based diagnostic testing services.

The study marks a significant advancement in cancer diagnostics, suggesting a broader application of OGM beyond hematologic malignancies to encompass solid tumors. As OGM continues to prove its efficacy, it holds promise for revolutionizing the field of cancer genomics, enabling more accurate diagnoses and personalized treatment options for patients.