What is genetic testing in myeloma? What is the purpose of doing genetic testing?

[Music] what is genetic testing people get the wrong idea about genetic testing i i would say and it's i forget that i'm 23 and me and the other one that traces your ancestry those are genetics of the body and the dna um that make up you as a person that's not what we think of in in terms of myeloma cancer is a genetic disease and the genetics of that are abnormalities in mutation chromosomal translocations from one region to another mutations um i explained about mutations where genes are inactivated or over activated and then we're trying to get to grips with epigenetics and so that's what we mean about it is the cancer cells have gone wrong and while it drives the whole cancer we should see it as an opportunity because the cancer cells have the mutations which means there's something about the cancer cells that can be targeted by a therapy and so if you can switch off the signals that keep the abnormal cells alive because surely they should be dead then they'll commit suicide and a good example of that is when you target a gene called bcl2 with phonetic class turns out that the 1114 subset of myeloma is exquisitely sensitive to that commit suicide and dies it's really important we study the genetics because you can use it for many different things including finding new treatments predicting response to therapies predicting the risk status for an individual person so it's really important that we understand it all because therein lies the secret to curing people so genetic testing uh traditionally means that we do a boomerang biopsy and we get tumor cells purified of the bone marrow that are the myeloma cells so effectively we look at the genetic changes that make the tumor star made the tumor start in the first place but also can now with new tools look at how these genetic changes evolve and develop and change over time with ongoing therapies so with that we can gain more insight some of these are known to be predictive of outcome of how patients respond to therapies and as we know through very new insights with drugs like venetoclax some of these can even help us tailor the therapy and select the right drug for the patient would you talk about genetics and myeloma so why genetics and before i do that let me just say a few words when it comes down to to genetics and myeloma what we're talking about is the genetic changes that happens in the cells that give rise to the myeloma and and i cannot emphasize this enough we're not talking about genetics as we think of them that we pass on from generation to generation this is not the hereditary part of genetics these are hiccups that happen in those myeloma cells that make them become the myeloma cells in those most part we know about this because of the work of people by by dr berg sago that we understand that little hiccups is what gave rise to multiple myeloma now like like you know if you're writing a story and you put a typo almost always nothing happens and you laugh and you see the typo but every now and then missing a coma or the wrong typo can change the whole meaning of a story and that's what happens with the genetic changes in myeloma those typos we know which ones they are we know which ones are the ones that happen on a regular basis and now what we're doing and have been doing for for for some time we can use that information to think okay this is a myeloma that is more likely perhaps to be a bit more aggressive or this is a myeloma it's going to be more stubborn but less aggressive or this is a myeloma situation where we have to think about a different drug that is the value of genetics number one number two this genetics are not a present in any other cell of your body they're just exclusively present in the myeloma cells so the muscle cells the bone cells our heart our brain everything is normal it's just that little hiccups that happen unfortunately in the cell that gives rise to the myeloma cells