Harmonizing Optical Genome Mapping is key for clinical implementation

Published in the American Journal of Hematology this January is "A Framework for the Clinical Implementation of Optical Genome Mapping in Hematologic Malignancies". This framework represents the collaborative work of multiple international early adopters of Optical Genome Mapping (OGM) who assembled to compile a detailed and tested road map for implementation of OGM in a clinical setting. A team of Radboudumc scientist and diagnostic staff members from the Department of Human Genetics belong to this consortium of OGM pioneers.

The manuscript highlights validation, quality control, analysis and interpretation of OGM variants with the goal of promoting a unified approach to reporting structural variation in hematologic malignancies and ultimately achieving globally accepted standards. Variances in clinical diagnostic practices create ongoing challenges for stakeholders in health care systems who make treatment decisions based on genetic/genomic analyses. Since OGM is rapidly emerging as a transformative cytogenomic technology both for research and clinical purposes, a key goal of this framework is therefore to enhance harmonization across clinical laboratories on a global scale.

Consensus critical for widespread adoption

The framework's Senior Author, Dr. Adam Smith states, "I recognized immediately when we started evaluating Optical Genome Mapping in 2021 that having a consensus about the best methods to validate the test and interpret the results were going to be critical for widespread adoption.  New genetic tests, often due to their complexity, are developed in many laboratories simultaneous leading to several bespoke implementations. Guidelines and best practices are often published by professional societies years after a technology has been widely adopted leaving a gap where many laboratories struggle alone to develop new technologies. So, we established the International Consortium very early in our development and with the help of other early adopters from around the world to develop a consensus set of recommendations for development and interpretation of OGM, not only for the members of the consortium, but for all members of the cytogenomic community that want to use OGM."

Standardized assay to eliminate disparities in healthcare

“Our inspiration to provide this experience-based OGM Framework stems from the lessons learned after the adoption and implementation of chromosomal microarrays and next generation sequencing” says Lead Author, Dr. Brynn Levy from Columbia University Medical Center. “We wanted to avoid the operational, analytical, and reporting differences that were observed between clinical laboratories when they first began offering cancer diagnostics using microarray and sequencing technologies. Optical Genome Mapping provides an opportunity for a single assay that identifies all known clinically relevant cytogenomic aberrations in patients with hematologic malignancies. Having a single standardized comprehensive assay has the potential to eliminate disparities in healthcare while concurrently reducing the overall diagnostic workup burden. The net result could potentially be a superior assay with reduced turn-around time, providing an opportunity for earlier initiation of specific treatment regimens, guided by precise molecular signatures.”

Open team science

A team of Radboudumc scientist and diagnostic staff members from the Department of Human Genetics belong to this consortium of OGM pioneers. Dr Kornelia Neveling, staff scientist Translational Genomics stated: “The close contact to OGM users all over the world allows us to be at the forefront when it comes to clinical implementation of this exciting technology. It’s an honor to be part of the international OGM community.”

Assoc. Prof Dr Alexander Hoischen, research group leader for “Genomic Technologies and Immuno-Genomics” added: “Both the advancements of the OGM technology and the take-up of this in clinical laboratories is remarkable – especially the utility for heme-oncology makes a very strong case for OGM as the ‘next generation cytogenetic test’. I am impressed how openly this group of pioneers shared their early experiences for the greater good. A wonderful example of translational research and open team science.”

More on optical genome mapping (OGM):

*Next Generation cytogenetics is on its way - Does Optical Genome Mapping turn cytogenetics upside down?

*Team Presents Optical Genome Mapping Method for Finding Chromosomal Alterations

Paper in the American Journal of Hematology: A framework for the clinical implementation of optical genome mapping in hematologic malignancies - Brynn Levy, Rashmi Kanagal-Shamanna, Nikhil S. Sahajpal, Kornelia Neveling, Katrina Rack, Barbara Dewaele, Daniel Olde Weghuis, Marian Stevens-Kroef, Anna Puiggros, Mar Mallo, Benjamin Clifford, Tuomo Mantere, Alexander Hoischen, Blanca Espinet, Ravindra Kolhe, Francesc Solé, Gordana Raca, Adam C. Smith

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