Elevating the Standard of Pathogenic Variant Detection in Myeloid Cancers


Advancements in genome analysis have revolutionized our understanding of myeloid cancers, yet challenges persist in elucidating their complex molecular underpinnings. Traditional cytogenomic and molecular analysis of myeloid cancers predominantly relies on karyotyping, FISH and targeted gene sequencing panels focused on known pathogenic variants. However, this approach falls short in addressing the diverse landscape of these malignancies due to low-resolution and/or limited genomic coverage, leading to ~50% of myeloid cancer genomes remaining cytogenetically normal, thus unresolved. 

In this Bionano in Motion webinar, we explore the utility and validity of an innovative strategy, proposed by Dr. Kolhe’s lab, from Augusta University, that combines optical genome mapping (OGM) with a comprehensive 523-gene next-generation sequencing (NGS) panel. This unique approach was meticulously evaluated against more traditional methods including karyotyping, fluorescent in situ hybridization (FISH), and a 54-gene NGS panel. 

The study showed that the high-resolution and comprehensive profiling offered by the combination of OGM and the 523-gene NGS panel was 100% concordant with traditional methods and generated multiple new findings of potential clinical significance, including some that would result in a revision of prognostic risk.  

After Dr. Kolhe presents details from this study and discusses implications for the future of myeloid cancer research, Bionano’s Product Management Director, Daniel Saul, will discuss an exciting new software released by Bionano, VIA™, a complete and integrated solution for the visualization, interpretation and reporting of genomic variants, with a special pipeline to take hematological malignancy data from sample to final reported result in a seamless way! 

Join us for this enlightening In Motion webinar and stay for an engaging and interactive Q&A session at the end, with our expert presenters.

Ravindra Kolhe, MD, PhD, FCAP

Professor and Interim Chair, Department of Pathology – Augusta University

Ravindra Kolhe is a Professor and Leon Henri Charbonnier Endowed Chair of Pathology at Medical College of Georgia at Augusta University and is the inaugural Associate Dean for Translation Research at Medical College of Georgia. He also serves as the Associate Cancer Center Director for Genomics at the Georgia Cancer Center. Currently, Dr.Kolhe leads an NCI-designated translational pathology laboratory for MATCH testing which is focused on comprehensive genomic testing in oncology.
He co-founded a consortium (SEQUOIA) of over 40+ clinical laboratories across the globe for the democratization of NGS testing in oncology and successfully helped multiple labs to bring NGS testing in-house. He has led several studies focused on adapting and validating newer technologies in CLIA laboratories by establishing PLA, Z-codes, GAP filing, and reimbursement.
He has authored more than 90 peer-reviewed publications and serves on CAP committees and scientific advisory boards for numerous profit and non-profit organizations.

Daniel Saul

Director, Product Management Software Solutions, Bionano

Daniel Saul is a director of product management software and informatics, at Bionano.
Prior to joining Bionano, he had held several roles at Illumina, including product manager of cytogenomic solutions, and had previously worked in Cytogenetics laboratories at the Johns Hopkins University and GeneDx.
Daniel obtained a MS in Biotechnology from the Johns Hopkins University and a M.B.A. from the University of Maryland University College.