Optical Genome Mapping (OGM) is emerging as a next-generation cytogenomic tool for genome wide assessment of structural variations.  OGM analysis in many cases can replace multiple current standard of care technologies including karyotyping, FISH, MLPA and microarray.  Additionally, the higher resolution with OGM, has led to an incremental diagnostic yield in both constitutional and acquired diseases, making OGM an attractive technology to increase clinical utility and efficiency in the laboratory. This session will provide an overview of OGM and demonstration of specific uses in standard laboratory practice including the assessment of hematologic malignancies and its use in the pre- and post-natal setting.  

This session will involve four pioneers of this technology – that will share their experience on how OGM is beginning to revolutionize a more holistic approach to the detection of genome wide structural variation.   Dr. Adam Smith (University of Toronto, Canada) will introduce the technology with brief history of its evolution from a research tool to being clinically validated, specifically in the area of hematological malignancies. Dr. Smith, who leads an international consortium for OGM early adopters in hematological malignancies, will summarize the consensus on OGM validation, analysis and reporting. Then, Dr Laila El-Khattabi (Sorbonne University Hospitals and the Brain Institute, Paris, France) will present work from her multi-institutional European collaborative project “CHROMAPS” which evaluates the clinical utility of OGM in detecting structural variations and aneuploidies in constitutional disorders including (neuro)developmental and reproductive disorders. CHROMAPS is a prospective study that compares performance of OGM and long read sequencing to current standard of care analyses. The third speaker, Dr. Nikhil S Sahajpal (Greenwood Genetic Center, USA) will present results from three cohorts; neural tube defects (NTDs), undiagnosed rare disorders and prenatal cases. Dr. Sahajpal, will show the ability of OGM in identifying new gene-disease associations and highlight the incremental diagnostic yield of OGM, specifically in cases that remain non-diagnostic after extensive laboratory workup - including exome and/or genome sequencing. Finally, Dr. Rashmi Kanagal-Shamanna (The University of Texas, MD Anderson Cancer Center, Texas, USA) will demonstrate the value of integrated approach of using optical genome mapping with targeted NGS for comprehensive diagnostic work-up of patients based on the experience following clinical adoption. She will also summarize the recommendations of the International Working Group for clinical OGM testing and elaborate the specific clinical scenarios where OGM testing is invaluable for therapeutic decision-making as relevant to the latest diagnostic, prognostic and therapeutic guidelines. Finally, she will highlight additional unique applications of OGM in clinical therapeutics, including evaluation of quality control of CAR-T cells for cell-based immunotherapies.