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Video

The Unique Power of Whole Genome Sequencing in Multiple Myeloma | Francesco Maura, MD | #ASH24

Posted by
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• December 13, 2024

Description

Francesco Maura, MD discusses the growing importance of whole genome sequencing in multiple myeloma, highlighting its potential to revolutionize cancer diagnostics as costs decrease. As the technology becomes more affordable and accessible, it promises to provide more comprehensive genomic data than traditional methods like FISH, offering new opportunities for better treatment and personalized care.

Transcript

Good morning.

My name is Francesco Maura from University of Miami, and I'm here attending the American and Society Hematology 2024 Annual meeting in San Diego.

Whole genome sequencing right now it's very complicated to do in clinic for several reasons. But the most important is infrastructure. Most of the cancer center in United States, and definitely all if not the virtually all cancer centers in the world are not equipped for this type of test.

However, whole genome sequencing and its cost are dropping. So ten years ago, a whole genome sequencing cost thousands of dollars. Right now cost a few hundreds. And because the new International Myeloma Society guidelines, require a sequencing testing now for defining high risk, that is a new high risk myeloma definition that requires TP53 mutations to be included, which means that every center in a war that wants to define high risk myeloma and treat them differently, they will have to do targeted sequencing.

And so if you don't do targeted sequencing, you will not be able to, treat your patient and profile your patient properly.

And so the decision about how to sequence this patient's DNA can be done with the simple panel or with whole genome sequencing. Because of the cost.

And then quicker development of the infrastructure across different cancer center and the diagnostic, providers. I do believe that in the next three, five years, most of the patients with multiple myeloma, if not all patients in United States, will have some sort of DNA profiling. Hopefully whole genome sequencing that, in my opinion, is the best and most informative technology.

Right now most of the diagnostic in multiple myeloma, if not all, is performed with FISH. So FISH is a kind of like a steam engine, technology compared to next generation sequencing. That is our electric car.

So we're still using for every patient is very old technology, which is good. We can detect these alterations very well, but we can only detect those alterations and is also very expensive.

So the advantage of doing next generation sequencing is that you can detect the same information that you do with FISH with only one test. So not with multiple tests, one for each alteration, but with one test you get all of them and you get that the more information you can detect alterations that we cannot detect, or new genomic features or TP53 mutations that is currently not detected by FISH.

So I think next generation sequencing not only offer a logistical opportunity, one testing that of many, but also offers a resolutions that allow us to better understand cancer and eventually also identify new markers that we still don't know.

As every new technology starts, development phase that is very expensive, everything cost a lot. And then over time, we optimize our product, we optimize the efficiency and the price drop in the recent years, in the last two years, different companies develop what we call low cost genome sequencing that, thanks to specific chemistry and methods, drop significantly the cost of from few thousands to few hundred.

So that's going to open the gates for a major revolution in cancer, because the tests right now is less expensive than most of the other tests, and it's incredibly more informative.

As I said before, we are talking about an electric car with, autopilot versus a steam engine car of the 19th century.

So it's really like we are at the beginning of a resolution. And I think how to handle all this amount and wealth of data will be one of the, priority for the multiple myeloma community.

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