Bionano Laboratories Announces Publication Of The Analytical Validation Of Its OGM-Based Laboratory Developed Test For Hematological Malignancies And Additional Multi-Site Technical Evaluation Of OGM

Author: Benzinga Newsdesk | December 12, 2023 09:22am

Bionano Laboratories today announced the publication of a study covering the analytical validation of its laboratory developed test (LDT), marketed as OGM-Dx™ HemeOne. This LDT is based on optical genome mapping (OGM) analysis of blood or bone marrow samples to detect structural variants (SVs) of diagnostic and prognostic utility in individuals with a new or an existing diagnosis of a hematological malignancy. The publication also included a multi-site peer-reviewed IRB-approved analytical validation study of OGM for the analysis of hematological malignancy samples, conducted by researchers at laboratories including Bionano Laboratories, Augusta University, University of Rochester Medical Center, and Children's Hospital Los Angeles.

 

In the study, researchers collaboratively defined a workflow for the analysis of hematological malignancies using OGM, and established protocols for analysis and interpretation using guidelines-based targeted variant assessment, in addition to a whole-genome analysis. The OGM-Dx HemeOne LDT was then validated at one site for concordance, sensitivity, specificity, lower limit of detection, increased diagnostic yield, and assay robustness, using samples from 60 cases with hematological malignancies (with various disease subtypes), 2 cancer cell lines, and 18 controls, generating a total of 215 datasets. Subsequently, the OGM workflow was applied at the other three sites, showing high levels of reproducibility across the sites.

The study authors found that OGM is a viable alternative to traditional cytogenetic methods, such as KT, FISH, and CMA, due to its ability to detect all classes of SVs, with the highest resolution of any cytogenetic method in clinical research use, and to improve diagnostic yield. The authors also noted OGM's simple and efficient end-to-end workflow, which may offer researchers streamlined analysis and lab adoption.

Key findings of the analytical validation of the LDT:

• The OGM-Dx HemeOne LDT demonstrated 100% concordance with traditional methods in the detection of SVs and 100% concordance in the detection of more complicated aberrations, such as translocations and inversions, at or above a 5% variant allele fraction (VAF) threshold
• The OGM-Dx HemeOne LDT was 100% specific and 100% sensitive for the detection of the set of Tier 1 and Tier 2 variants, as defined by World Health Organization (WHO) and National Comprehensive Cancer Network (NCCN) guidelines for comprehensive evaluation of hematologic malignancies
• The OGM-Dx HemeOne LDT resolved structures in complex genomes, effectively consolidating the results of three orthogonal technologies (KT, FISH and CMA)
• In 28% of cases (17 out of 60), OGM identified additional pathogenic variants not previously reported by traditional methods

Finally, as part of the multi-site analytical study of OGM performance,14 cases and 10 controls were run and analyzed using the same OGM workflow at three outside laboratories. The results of this evaluation showed reproducible concordant performance of 96.4% across all sites, operators, and samples.

"We are pleased to see the clinical validation of Bionano Laboratories' OGM-Dx™ HemeOne LDT, analyzing its potential to serve as a first-tier cytogenetic test for heme malignancies. We believe that our LDT can provide a comprehensive evaluation of genome wide SVs that will allow oncologists to assess the best potential therapies for their malignancy patients," stated Justin Leighton, vice president of laboratory business at Bionano Laboratories. "The study authors also noted that OGM can be easily implemented in the clinical setting and can substantially reduce operational complexity and improve the detection rate of pathogenic SVs and may provide a reproducible and robust alternative to traditional cytogenetic methods in routine workup of most hematological malignancies."

The publication can be viewed here.

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