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EHA 2026 | Whole genome sequencing reveals clinically relevant alterations missed by standard testing in MDS
Alex Bataller, MD, PhD, The University of Texas MD Anderson Cancer Center, Houston, TX, discusses findings from a whole genome sequencing study in myelodysplastic syndromes (MDS) that identified clinically relevant genomic abnormalities missed by standard testing approaches. Dr Bataller highlights how comprehensive genomic profiling may improve prognostication in MDS by identifying novel alterations that are currently unrecognized. This interview took place at the 31st Congress of the European Hematology Association (EHA) in Stockholm, Sweden.
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Transcript
So in this study, basically, what we did was to, like, test some samples that we already tested with our standard of care procedures that include cytogenetics, sometimes OGM, and also NGS. We compared that to a more wide approach that is the whole genome sequencing to see if, like, the results were comparable or if there were some things that were missing. And actually, we found some very interesting results, like, for example, in some of these patients in which the NGS and cytogenetics were showing not that many important findings...
So in this study, basically, what we did was to, like, test some samples that we already tested with our standard of care procedures that include cytogenetics, sometimes OGM, and also NGS. We compared that to a more wide approach that is the whole genome sequencing to see if, like, the results were comparable or if there were some things that were missing. And actually, we found some very interesting results, like, for example, in some of these patients in which the NGS and cytogenetics were showing not that many important findings. With the whole genome sequence, for example, we found cryptic MECOM rearrangements, also some other abnormalities, and these actually impact the survival, basically in the prognostication and survival of patients. So I think that with better tools to diagnose patients that include, for example, whole genome, first we can detect cryptic abnormalities that we will not detect with the current standard of care, but also we may also identify novel genes, novel alterations that for now we are missing and that they could have a potential prognostic and survival impact.
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