Medical Director Columbia University Closter, New Jersey, United States
Description: Optical Genome Mapping (OGM) is emerging as a powerful cytogenomic technology for detecting genomic aberrations in myeloid neoplasms, offering advantages over traditional methods like karyotyping, FISH, and chromosomal microarray. Our recent work showed that OGM not only identified all clinically relevant structural variants and copy number variants detected by standard methods but also revealed additional clinically significant information in some cases, potentially altering clinical management or trial eligibility. OGM's ability to consolidate the diagnostic benefits of multiple tests into a single assay with higher resolution and comprehensive genome-wide analysis has led to increased interest in its clinical implementation. To facilitate this process, an international consortium of early OGM adopters has recently published guidelines on validation, quality control, and variant analysis of OGM data.
Presentation Descriptions: 1. Describe the basic optical genome mapping process 2. Identify the potential increased diagnostic yield that optical genome mapping provides for patients with acute myeloid leukemia compared to routine karyotyping
