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ASH 2024 | The impact and value of whole genome sequencing in multiple myeloma
Francesco Maura, MD, Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, comments on the impact and value of whole genome sequencing (WGS) in multiple myeloma (MM), highlighting that WGS is becoming increasingly accessible and cost-effective, and its adoption is accelerating. This advance will allow for improved diagnosis and the optimization of treatment for patients with the disease. This interview took place at the 66th ASH Annual Meeting and Exposition, held in San Diego, CA.
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Transcript (AI-generated)
Whole genome sequencing is a technology that requires a lot of expertise, requires important infrastructure in terms of data storage and data analysis. But in the past, it has always been limited by the high cost. Doing whole genome sequencing cost a few thousand dollars a few years ago, even ten thousand dollars ten years ago. Right now, thanks to this new technology, we can get whole genome sequencing data for a few hundred dollars...
Whole genome sequencing is a technology that requires a lot of expertise, requires important infrastructure in terms of data storage and data analysis. But in the past, it has always been limited by the high cost. Doing whole genome sequencing cost a few thousand dollars a few years ago, even ten thousand dollars ten years ago. Right now, thanks to this new technology, we can get whole genome sequencing data for a few hundred dollars. So now, whole genome sequencing is cheaper than the standard diagnostic tests we do, and it’s massively more informative. We’re talking about comparing a steam engine versus a Tesla. So whole genome sequencing is our Tesla.
So I think right now we are not ready from an infrastructure standpoint, but from the biological treatment and also financial standpoint, I think the field is moving fast toward genomics. So it could be whole exome, karyome, whole genome, but that’s something that’s going to happen fast. In myeloma is going to happen even faster, thanks to the new International Myeloma Society guidelines for high-risk that are still unpublished, but the paper is going to come out soon and the data have been already released, where TP53 mutations are part of the high-risk definition. So if you cannot detect TP53 mutations because you don’t do the sequencing of the DNA of the patient, then you will not know if the patient is high-risk properly. And because we want to treat our patients in the best way possible, and TP53 mutation is becoming one of the key factors to identify. All the centers in the world, or at least in Europe and in America, that have this capability should do this testing. And people are working around that. There are important experiences in France, where they’re already doing trials where they do all sequencing. Other groups are doing other sequencing platforms. So I think it’s happening, it’s happening fast, in a very heterogeneous way, but at a certain point I think we’ll also reach a consensus where, you know, it’s not just detecting the mutation, but also how to detect and what is the best approach to detect. And hopefully this will come soon.
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