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MDS 2021 | The latest genomic updates in the field of MDS

Michael Rauh, PhD, MD, FRCPC, Queen’s University School of Medicine, Kingston, Canada, discusses the latest genomic updates in myelodysplastic syndromes (MDS). Dr Rauh explains that the recent discovery of a set of recurring mutations associated with MDS – mainly affecting RNA splicing and epigenetics – are being integrated into traditional prognostic methods. Targeted sequencing panels and optical genomics techniques are also being developed to detect molecular aberrations in the context of MDS and may slowly replace traditional cytogenetic techniques like FISH and karyotyping. This interview took place at the 16th International Congress on Myelodysplastic Syndromes, held virtually in 2021.

Disclosures

Michael Rauh, PhD, MD, FRCPC, has periodically provided informal feedback to Thermo Fisher over the last 3 years on Oncomine Myeloid NGS panel performance, receiving no remuneration; and has presented a talk at Thermo Fisher “Oncomine Day” in Toronto (October 24, 2019) where rail travel and overnight accommodations were provided.