SUMMARY
Genomic abnormalities play an increasingly important role in prognostication and classification of haematological malignancies (HM), as evidenced by their continual integration into updated classification and risk assessment models. Optical Genome Mapping (OGM) is a relatively new high-resolution technology that offers novel opportunities to assess chromosome abnormalities, increasing the detection yield of clinically relevant abnormalities and allowing rationalisation of diagnostic pathways by abrogating the need for multiple complementary tests. Furthermore, it could streamline laboratory’s technical pipelines, avoiding the need for multiple disease specific workflows. Given these findings, OGM is currently being implemented into the diagnostic workflow, as a first line test, by numerous laboratories worldwide and is being validated with view to implementation in many more, including Belgium. Here we propose recommendations for implementation of OGM testing in the routine diagnostic workup of HM.
(BELG J HEMATOL 2024;15(6):233–7)
