A National Multicenter Evaluation of the Clinical Utility of Optical Genome Mapping for Assessment of Genomic Aberrations in Acute Myeloid Leukemia

Columbia University Medical Center
January 26, 2021
 

Dr. Brynn Levy

Brynn Levy, PhD, FACMG, Director of the Clinical Cytogenetics Laboratory at Columbia University, presents on the national multicenter evaluation of Saphyr in Acute Myeloid Leukemia, representing a consortium that includes the most important cancer research and treatment centers in the US. The previously reported and published study compared OGM results on 100 AML samples against karyotype, FISH and CMA. Dr. Levy concludes that OGM is concordant with all three traditional cytogenomics tools combined, and provides additional clinically useful information, missed by traditional methods, in 11% of the cases, and better characterizes the identified events in 40% of patients. Saphyr improves on genome analysis for AML patients by combining 3 assays in one, represents a significant time and cost saving, and provides a more objective, automated analysis that would remove subjective testing decisions at individual sites and could potentially remove disparity in healthcare.