Optical Genome Mapping for Enhanced Characterization of Myelodysplastic Syndromes

Originally Aired: November 15, 2022
Time: 11:00 am PT, 02:00 pm ET, 20:00 CET

Comprehensive identification of structural chromosomal aberrations is crucial in clinical work-up of hematological malignancy samples for accurate characterization, classification, and stratification of cases. With current standard-of-care cytogenetic methods (Karyotyping, FISH, and CMA), many abnormalities are missed due to limitations of each approach, from low resolution to the inability to detect certain structural variant classes.

Optical Genome Mapping (OGM) has emerged as a promising technology that can maximize the detection of all classes of chromosomal aberrations. Numerous scientific studies have also demonstrated that it not only provides results that correlate to findings from traditional cytogenetics but also reveals significantly more pathogenic variants of relevance, that together with mutational analysis by NGS, leads to better characterization of samples and improvements in prognosis risk assessment.

This Inside Precision Medicine webinar is intended to provide the combined perspective of an oncologist, Dr. Garcia-Manero, and a pathologist, Dr. Kanagal-Shamanna, on the utility of Optical Genome Mapping in Myelodysplastic Syndromes (MDS), a type of hematologic malignancy, based on leading research conducted by their groups at the MD Anderson Cancer Center.

Topics to be addressed are the role that cytogenetics and molecular genetics play in MDS characterization, challenges faced by pathologists and oncologists when results are ambiguous or non-informative, and the expected impact on the clinical research field. In addition, results from recently published data, and different case studies, comparing OGM to other standard-of-care methods across a cohort of MDS samples will be discussed.

A live Q&A followed the presentation, offering a chance to pose questions to our expert panelists.