Moving Us Forward

According to ASCO’s “Cancer.Net” website, CNS tumors account for >300,000 overall cancer diagnoses worldwide and are estimated to be the second most common type of childhood cancers. When it comes to investigating the molecular bases of CNS tumors, and in particular the role of structural variants (SV), multiple technologies have been used over the past decades.

However, the underlying genetic alteration remains unresolved for many samples. Therefore, there is a clear need for the application of new technologies.  In this enlightening symposium, three presenters unveil groundbreaking data from their clinical research on SVs in CNS tumors. The data was generated using Optical Genome Mapping (OGM), a method known for its comprehensive, high-resolution, and unbiased detection of SVs across the genome.

As part of this session, a comparison of OGM performance to classical methods, such as microarrays, will also be presented. ​

Optical Genome Mapping (OGM) is emerging as a leading new method to assess the cytogenomic profile of hematological malignancies, as shown by the mounting evidence presented in peer-reviewed publications worldwide. Not only has OGM been shown to be highly concordant with classical methods in the detection of structural and numerical variants, but it has also been demonstrated to reveal multiple incremental pathogenic variants.

Additionally, it is transforming lab workflows by enabling consolidation of multiple assays into a single assay. This session will start with a brief introduction on OGM by Dr. Hastie, followed by Dr. Dubuc and Dr. Crocker presenting clinical research data generated using OGM across different types of hematological malignancies, including lymphomas, myelomas and leukemias.

The session will end with Dr. Smith discussing an international working group initiative and proposed framework for standardized implementation of OGM across cytogenetic labs.

Optical Genome Mapping (OGM) is emerging as a leading new method to assess cancer and genetic disease samples, providing a comprehensive and high resolution cytogenomic profile. This method is helping to unveil previously unidentified pathogenic numerical and structural variants that may assist in resolving cases that have been cryptic for many years.

Bionano provides a workflow with end-to-end solutions for OGM, including kits for sample isolation and labeling, the Saphyr® platform for optical mapping, and VIA™ software for variant calling, annotation, interpretation, and reporting. During this session, we will provide an overview of Bionano’s end-to-end OGM workflow, with highlights on the latest product developments and innovations to enhance, streamline and enable scalability.