ASH 2024 | Using optical genome mapping to improve classification & risk stratification of myeloid malignancies

We actually have a recent publication in the American Journal of Hematology on this very subject. So optical genome mapping is a, really if you want to think about it, a very high resolution karyotyping method. It’s based on whole genome. It’s a DNA imaging method. And it can detect what we consider cryptic abnormalities that are not visible on a routine karyotype. So it can detect those with very high reliability. So it does really, if you think about it, it improves the detection of these cryptic abnormalities and so it improves the classification and also risk stratification of AML. Some of these examples of these abnormalities are NUP-98 rearrangements, which we now know are sensitive to menin inhibition, so very timely and important for us. There are also other abnormalities, like let’s say in a case with a complex karyotype, sometimes it’s very difficult for us to tease out the different abnormalities just based on a karyotype. But with optical genome mapping, because the resolution is higher, we’re able to really define the different abnormalities. 

There are some limitations to optical genome mapping. It still has a sensitivity of about, I would say, 5-10% at best, sometimes 20%. You’ll need 20% clonal cells in the sample to be able to reliably detect an abnormality. So it’s not a great method for follow-up or MRD assessment, but it really is a very robust tool for characterizing the genomics of various hematologic malignancies at baseline. So we really like it. We use it now for all of our upfront newly diagnosed myeloid malignancies, some of our small B-cell lymphomas like CLL, mantle cell lymphoma, and then MDS, MPNs like chronic myelomonocytic leukemia, and so on and so forth.

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