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Genetic Testing From a Myeloma Patient Perspective

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Published on October 9, 2019

How do multiple myeloma patients view the use of genetic testing? In this Patient Café program, a panel of myeloma patients and care partners at various stages on their journey share their experiences with genetic testing. The conversation, led by host Jack Aiello, includes unique perspectives on mutation analysis, interpreting results and why some have received testing and others have not. Watch now to hear their stories.

This is a Patient Empowerment Network program produced by Patient Power. We thank AbbVie, Inc., Celgene Corporation, Janssen Pharmaceuticals and Takeda Oncology for their support. These organizations have no editorial control and Patient Power is solely responsible for program content.

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Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That's how you’ll get care that's most appropriate for you.

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.

Jack Aiello:

Thanks for joining us for this Patient Empowerment Network Myeloma Patient Café. I’m Jack Aiello.  I’ve been living with myeloma since 1995, and the world has changed a lot since then, including the  introduction of genetic testing. That’s gonna be our topic of discussion today. I personally have never  had genetic testing because it wasn’t done back then, so I’m looking forward to learning from you all,  our patient panel, who have been diagnosed more recently than I have.

We’ll talk exactly what genetic testing is about, why you might get genetic testing done, and more,  but we won’t really go into the science of it. Instead, this is gonna be a conversation among patients  and caregivers and serve off as a jumping point to pique your interest in genetic testing, and have a  discussion with your doctor about it if you desire. 

Before we dive in, I wanna meet our panel, and I’m gonna ask each of you to introduce yourself. Tell me when you were diagnosed and the treatments you’ve gone through, and I will start with Doug.

Doug Kenaley:  
I’m Doug Kenaley. I was diagnosed in 2015, and my initial induction treatment is a little different 

than most. It was really only—it turned out to be bortezomib (Velcade) and dex (Decadron), and it got me down to the level  where I could have a stem cell transplant, so then, I had an auto stem cell transplant. And then,  about five months after that, I joined the elotuzumab maintenance trial, so I’ve been on elotuzumab  (Empliciti) and lenalidomide (Revlimid) since that point.

Jack Aiello:           
Okay. Peggy, tell us about yourself.

Peggy Lindley:  
My name is Peggy Lindley, and I was diagnosed with this lovely disease on Valentine’s Day of 2019,  and it was just from my regular doctor. I go every year for my bloodwork, and he found something  with me, and he found it only—he was aware of it because his mother was diagnosed a couple of  years before that, so he’s the one that got me there because I would have never thought that. He  asked me, “Do you have any bone pain or anything?” I said, “Well, just my back,” and that was it.  Anyways, he told me what I had. Then, I had a bone marrow biopsy, and that showed it.

So, I went through five rounds of the Revlimid, dex and Velcade, and then, in July of last year, I had my stem cell transplant, and I got my stem cells back on July 12th, and then, in November of last year, I started with the maintenance therapy, which is elotuzumab with Revlimid, so I do that every 28 days now. It was a little bit sooner, and you start one week—it was a progression, so now, I go once every 28 days.

Jack Aiello:           
Got it. Nancy, tell us about yourself.

Nancy Raimondi:               
My name is Nancy Raimondi, and I was initially diagnosed in 2006 with smoldering multiple  myeloma, and I was followed over the next nine years—I just continued to smolder until 2015. I  developed a plasma cytoma, and that got biopsied, and it was 60 percent myeloma cells, so I needed  treatment, so I started treatment July of 2015, I was diagnosed as high risk, so I was put in a clinical  trial that included carfilzomib (Kyprolis).

I had five rounds of chemo, did tandem stem cell transplants, and finished everything about seven and a half months later. Went in maintenance therapy the first year, was when Ninlaro was just released, so I was on ixazomib (Ninlaro), Revlimid, and dex for a year, and then, that got changed to daratumumab, Revlimid, and dex, and I was on that for another year. And then, in December 2017, I was MRD-negative, and I’ve not been on any treatment for myeloma since then.

Jack Aiello:           
We’ll talk more about MRD-negative, because that’s important to this discussion. George, how about  yourself? 

George Burrell:                   
My name is George Burrell. I was diagnosed in April of 2011. Ironically, the day that I was diagnosed was Easter Sunday and my wife and I’s anniversary. The—doctor told us we had multiple myeloma, and that we needed to get the numbers down so that he could put me in a stem cell transplant. I’ve  had two of those, and I’m currently on a three-stage regimen of Cytoxan, dexamethasone and  Kyprolis, and it seems to be working quite well. My numbers are down, and have been holding pretty  steady for about four or five months now, so we’re really happy.

Jack Aiello:           
I thought it was interesting, Peggy, how George introduced the fact that “we” were diagnosed with  myeloma, so maybe you can talk about what that experience was like for you.

Peg Burrell:          
Well, definitely, it is a journey of “we,” and it was very frightening. I’d only heard the word “multiple  myeloma” one time, with a colleague from work whose father was much older, who’d had multiple  myeloma. And, George’s symptom was low iron anemia, and he’d been sent to an oncologist for iron  infusions, but he never presented any other symptoms.

The doctor would say, “How are you?”, and he would say, “I’m fine,” and a year later, he was rushed to the emergency room with bleeding ulcers, and that’s when the oncologist just happened to be in the ER, and they thought George was having a heart attack, his blood count was so low, so they did a CT scan, and his oncologist came in and said, “This is multiple myeloma, I’m pretty sure.”

So, it was devastating, very frightening, but once we had a game plan—and, the one thing that George told me—he says, “Stop treating me like I’m dead,” and I was running over curbs taking him to appointments, and I was just a wreck. He was like, “You’re gonna kill me.” But, it is quite a journey, and I’m happy that I’ve been able to be there with him.

Jack Aiello:           
Good. Since this Patient Café is to focus on genetic testing, let’s first get agreement what genetic testing is, which is basically looking at potential mutations in your myeloma cells. So, with that in  mind, other than me, who’s never had genetic testing, has every patient here had genetic testing?

Doug:     
Yup.

Peggy Lindley:  
I have.

Jack Aiello:           
Probably, right? Because you begin maybe with a FISH and cytogenetics testing. Doug, when you had  that, did that yield anything interesting for you?

Doug Kenaley:  
Mine was a bit interesting, because I went to a local oncologist, even though I was here in Houston,  who’s close to me, and he had done a stint at MD Anderson. And so, he presented it to me when I  was diagnosed—“You should have genetic testing right away.” So, I looked into it and thought it was  a good idea, even though four years ago, even, there wasn’t a whole lot more—you have a test, but  then what? That kind of thing.

This emphasizes why a lot of times, you wanna go to a specialty place like MD Anderson, because they did the bone marrow biopsy, and the tech put it in the wrong solution, and it destroyed the sample. But they were gonna hold off my induction. So, the doctor was pretty mad, but my first attempt was a failure. But then, he said, “Well, ultimately, you’ll probably go for a stem cell transplant. We’re gonna hook you up with MD Anderson right away, even during your induction.” And, the first thing they do here is genetic testing.

So, at that point, I got a genetic test—successful genetic test—and it was interesting because the results came in, I got the labs, and I’ve done science—I’m a scientist, I’m a geologist—but it’s just a lot of alphabets, and it’s very complicated. They’re worse in the summaries. It said, “No deletions found, no translocations found,” things like that, but you really couldn’t understand the rest of what was in there, and you kind of suspect there was something hidden in there.

But I sat down with the doctor here, and he went over it. It said basically, I was a standard-risk patient, and my FISH and cytogenetics showed that I had tetrasomies—so, four versions of the genes instead of the normal two. And, he says, “So, if you wanna look at it, that’s kind of a good news thing because we have drugs that target certain things, you have lots of those things to target—multiple copies of those things,” so that kind of relaxed me a little bit. I think it actually impacted my standard of care a little bit, and certainly, my quality of life, because I think the doctors relaxed a little bit too. They wanna get ahead of it if you’re high-risk.

Jack Aiello:           
So, Peggy, when Doug mentions he got a report from FISH and cytogenetics, which is essentially gobbledygook—

Peggy Lindley:  
It is. 

Jack Aiello:           
What did you do when you got that?

Peggy Lindley:
They told me right off the bat that I had myeloma, and that I had an aggressive form. So, I went through the rounds, and I responded very well to induction therapy.

Jack Aiello:           
And, by “aggressive form”—how did they find that?

Peggy Lindley:  
They just said it was aggressive. They didn’t really—they said the FISH test—it was still Greek to me. So, now, two years later, I’m understanding it more and more, but what it was was the translocation  of the 4-14. So, I find that, and I ask doctors about that, and they say, “Yes, it is aggressive, it’s on the  aggressive form, but it’s still on the intermediate side.” So, I’m not as concerned, but at least the  doctors know, and they’re aware.

Jack Aiello:           
And, “4-14” means that chromosome 4 and chromosome 14 pieces have been swapped places?

Peggy Lindley:  
I don’t really understand that yet, but I’m learning. That’s good, very good. See? I’ve learned  something more. 

Jack Aiello:           
There you go. And, Nancy, you’ve been at this for a little while, so you probably understand a little  bit more about genetic testing. What’s the impact been on you?

Nancy Raimondi:               
Well, I’m getting there, but it is—it’s a lot of alphabet soup. It’s hard to retain. But, yeah, I had  genetic testing done right away once the myeloma became active, and I also had aggressive high- risk. I had abnormal female karyotype, monosomy 13, the p53, and a translocation—but I forget  which one. And, what was interesting is in my initial appointment with my oncologist, he thought I  was low-risk and talked about treatment, but when all the final results came back, turned out I was  high-risk, which meant completely different treatment. So, that was a shocker.

Jack Aiello:           
So, expand on that a bit. How did that high risk change your treatment?

Nancy Raimondi:               
He recommended a clinical trial instead of what they were gonna put me in, which included being  treated with carfilzomib, which, at the time—this was 2015—carfilzomib was being used mostly for  people who had relapsed, and they were doing a clinical trial to see about treating patients up front  with it that are high-risk. Why wait until they relapse? So, I had that in addition to the PACE cocktail  with thalidomide, something else—there were seven different chemos.

Jack Aiello:           
So, that was important that that high risk for you helped determine a change for the treatment, but  you got into that clinical trial, and that was an effective trial, by the way, so that’s good.

Nancy Raimondi:               
Yes. It was definitely effective for me.

Jack Aiello:           
Good. And, George, when you did—or, you did genetic testing, I presume, and did it show anything?

George Burrell:                   
Yes. The first time we did it was to run tests to get ready for the first stem cell transplant, and at that  time, I didn’t understand the importance of all that. The oncologist that I was working with at the  time did explain as much as he could, and in layman’s terms as best he could, but it still mostly went  over my head. I was more thinking about the actual transplant itself than anything else. But, when I  came to MD Anderson and got ready for—I was getting ready to try one of their clinical trials, they  ran some more tests then, just to see how things had progressed through that number of years, and  so, I’ve actually had partially two of them.

Jack Aiello:           
So, I was gonna ask—have any of you had subsequent genetic testing where results have changed  after your treatment for myeloma? You’re nodding your head, Nancy.

Nancy Raimondi:               
Yeah. Over a year ago now, I had my genetics repeated, and all the abnormal stuff went away, so  that was pretty exciting, because I was now MRD-negative, so that was very reassuring. And, I 

actually just had another bone marrow about 10 days ago now, so I’m still waiting for those results  to see what’s happened.

 Jack Aiello:          
And, are they gonna test that bone marrow for genetics as well?

Nancy Raimondi:               
Yes.

Jack Aiello:           
Because you might find there are changes. You might find there’s a translocation where there wasn’t  one before, you might find there’s a deletion where there wasn’t one before, because this myeloma  is a fairly tricky disease, and we talk about the myeloma clone as made up of a percentage of  different mutations, some of which get cured by treatment, and others of which expand because  they were not affected by the treatment. It’s pretty interesting, in a lousy sort of way. Anything else,  Doug, that you thought was interesting that came out of your genetic testing?

Doug Kenaley:
It looked pretty standard and fairly boring to people who liked exciting genetic testing. I did have  two, so I had one—so, my original doctor says, “We like to get patients early to get an original  profile.” That’s kind of like your baseline. And, I also had one right before my stem cell transplant,  because they like to check to see if anything happened. But the doctor says the chemo messes with  myeloma—obviously, that’s why you have chemo—and he says, “You’ll probably see some  differences, but that’s why we like an original one, too.”

So, I compared the two, and really, there were no extra risks—high risks or anything—that appeared. The only thing that popped up was instead of tetrasomies, I had trisomies also, but that was pretty much it. So, it didn’t really change anything in terms of treatment in terms of work that was being planned.

Jack Aiello:           
And, tetra- and trisomies are basically quadruple and triple duplications of your chromosome. So, I’m  wondering, both Peg and George, have you had a second MRD testing, and why did you end up doing that?

George Burrell:                   
I don’t know that we’ve had a second one. Have we?

Peg Burrell:          
Yes.

George Burrell:                   
We have?

Jack Aiello:           
Oh, you had MRD testing?

Peg Burrell:          
Yes, I’m pretty sure we had. He was in a clinical trial in 2018 at MD Anderson, and I’m sure they did it  then. They also did some very unusual—not normal, but they were genetic tests that they ran as part  of the—at the beginning of this study so they could get a baseline, or find out what other things  might be going on.

Jack Aiello:           
And, he did this MRD trial testing to determine if he had a significant number of cells with this BCMA  antigen in order to qualify for this CAR-T trial?

George Burrell:                   
Probably.

Peg Burrell:          
In the beginning, yes. That was in 2012. And then, he had his—he was in a second trial that was  called Amgen 224. That’s all we know. It’s a mystery. And, it worked for him for about a year. It  brought his cancer numbers back down, and there was a lot of genetic testing for that particular trial.

Jack Aiello:           
So, I think just about any of these new trials that are coming onboard these days incorporate MRD  testing. As we all heard earlier and we know, MRD is a really good prognosticating factor in terms of  if a patient becomes MRD-negative, they show that they have better progression-free survival and  overall survival. It’s not really used to change or determine treatment, but those trials are going on  as well, so I think that’s really important.

And, there are so many other avenues—again, back to this genetic testing, I always wonder, well, suppose I’m MRD-negative, but I’m high-risk, versus I’m MRD-positive but I’m standard-risk. Which is better? I don’t know. I don’t think the community knows, and I think it may be individualized as well. What do you all think about that? Any feelings?

George Burrell:                   
For me, I think that’s probably what is gonna be revealed to us as we move forward with this  because the genetic testing idea is fairly new, at least to the patient. I’m sure that the doctors could  pull each and every one of our files and show us all sorts of information that they just haven’t shared  with us because of—it can be kind of complicated and hard to understand. Sometimes, I think that  they try not to give us too much information because then, we have a tendency to think we can get  on the computer and try to diagnose ourselves or find something.

Jack Aiello:           
Little Rock, Arkansas was kind of the pioneer in what’s called gene expression profiling. And, we all  have 25,000 genes, let’s say, and Arkansas kind of developed a test which showed that there were  about 70 genes that were very distinctive in resulting in high-risk myeloma, except they were  distinctive across, say, 50 percent of patients, but not the other 50 percent of patients. And then,  they tried to get it down to even 15 or 25 genes, let’s say, and therefore, it was less accurate.

So, I think you’re right, George. I think there’s still a lot of work that’s gonna be done in this area to make it something that really can be useful in terms of having the best treatment for patients. There’s an interesting trial going on right now that’s looking at treating myeloma patients according to a mutation. If we have a certain mutation and we have a drug to treat that mutation—it could be for a different cancer—then that patient will be given a baseline of treatment plus that drug to try to increase the amount of precision therapy that’s given for given patients.

So, this whole area of genetic testing, as I see it, is really fascinating, complex, difficult to understand at the patient level, but can mean a lot for us as we go forward. What do you think? Peggy, I think you’re the most newly diagnosed patient here. What does all this mean for you?

Peggy Lindley:
I think his analogy of the alphabet soup is exactly right because when I looked at mine, I was like,  “Those are words? Yeah, no.” But, I tried not to worry about it because I figured I was going to the  best when I came to MD Anderson, so I really didn’t worry about it too much, because I figured it’s  gonna be what it’s gonna be, and I wanna—the quality of life is what I’m looking for.

Jack Aiello:           
Well, I think you’re really correct there. The fact that you’re going to MD Anderson, the fact that we  are getting second opinions from myeloma specialists who have a much better shot at understanding  this stuff than we do is really key to long-term treatment success for us. There are a lot of drugs out  there. In fact, I’ll often tell patients when I was diagnosed in ’95, there weren’t many treatment  options. Today, the good news is there are lots of treatment options, but the bad news is there are  lots of treatment options. You really don’t know what’s best for you, and that’s why it's so important  to have a myeloma specialist on your side.

George Burrell:                   
Well, with that, the idea of being able to target certain things within myeloma is gonna be a big step  forward, I think, because it’ll help eliminate some of the things—the trials that we might try, or have  to make a decision—“Do we try this or not?” We’ll be able to say, “This didn’t work, so this will— let’s try this.”

Jack Aiello:           
Yeah. There’s a drug called venetoclax (Venclexta), which has been shown to be effective in myeloma patients  with a certain mutation—11-14—and it’s in trials now to hopefully, one day, get approved for that  class of patients.

Doug Kenaley:  
One of the things I’d probably add to the discussion is there’s a lot of talk about patient advocacy,  and if you follow any of the myeloma discussions, it is almost all genetics now. That’s kind of where  cancer research has gone, even in other cancers. But, one of the things that I see genetic testing is  doing is my ability to help the doctor help me.

So, if it was more difficult to get genetic testing—maybe not local to a major facility or something—I would still encourage it because that’s helping the doctor see your specific disease, and maybe helping them modify what you have as a standard treatment in terms of what you need instead of the standard treatment. Plus, you have it in the bank then. You have your test, and if something is discovered a year from now, that this particular drug works with this particular genetic profile, you can go back, and look, and say, “Do I have that? Is that something I should consider?”

Jack Aiello:           
Good point. Nancy, how important do you think it is for patients to 1) Insist that they get some type  of genetic testing, and 2) to try to understand what’s going on?

Nancy Raimondi:               
Well, I think it’s extremely important. For me, it was a major change in treatment. Without genetic  testing, I doubt I would be MRD-negative right now, because my treatment path went along a  completely different way. So, I think it’s extremely important. What was the second part of your  question?

Jack Aiello:           
How important it is for the patient to understand it.

Nancy Raimondi:               
I think everybody has a different level of what they can understand, and that it’s important for your  oncologist to give you that information in language that you can understand, and to the level that  you want. A lot of that’s gonna depend on your background, your education, what makes sense to  you. I came from a medical background, so I wanted a little more knowledge, and my doctor was  great in giving that to me.

 

Jack Aiello:           
Patients need to ask questions.

Nancy Raimondi:               
Yes, they definitely need to ask questions, and then, the physician needs to communicate in a way  that the patient’s gonna understand because it is a lot of gobbledygook, and I often—I have a hard  time understanding it with having a medical background, and I often wonder how you make sense of  this without having a background. It’s difficult.

Jack Aiello:           
This has been a good discussion, and I think we’ll wrap it up. Peg, maybe I’ll start with you. Folks  listening to this discussion—what do you think they should take away from it?

Peg Burrell:          
Well, definitely, talk your physician, learn as much as you can. Support group for us has been very  beneficial and helpful. Our support group brings in different people in the medical profession and  has explained a lot of the things and given us knowledge we wouldn’t have had otherwise. And then,  working with—sometimes, insurance may not wanna pay for certain tests. I’ve found that in working  with MD Anderson, their financial people—we had some tests that were gonna be—I think they said  “non-concerted.” I’d not heard that before. It basically meant they were questioning the test and  whether or not it was necessary. So, MD Anderson was very helpful with that.

Jack Aiello:           
George, can you add on to what your better half says?

George Burrell:                   
For me, it’s been working closely with Dr. Patel and her team, both when I was part of the clinical  trial and even now, with the three-track regimen that they have me on. Again, ask questions, try to  understand as much as you can, and I, too, support the idea of working with a support group and  sharing information with each other because you find out so much more of what someone else  heard through their doctor and their team, because we all do have different doctors.

Jack Aiello:           
Nancy?

Nancy Raimondi:               
I think it’s real important for people to go to a center of excellence, at least for a second opinion, if  not for your treatment. They are the cutting-edge people that are gonna be able to treat you the  best, and you can just google “center of excellence, multiple myeloma,” and you’ll get a list of all the  centers all across the United States. I think it’s made a huge difference. I was treated at UAMS in  Little Rock, and I wouldn’t have had it any other way. I was fortunate to be able to go there.

Jack Aiello:           
Good. Peggy?

Peggy Lindley:  
I think as patients, we all need to be as informed as you can, and work with your doctor, and get  confidence in your doctor. If that doctor doesn’t do it for you, find another one, but be confident in  your doctor that they’re gonna do what’s right for you, but you have to be educated as well.

 

Jack Aiello:           
I heartily agree. Doug?

Doug Kenaley:  
I’d stress the same as everyone else, and also recommend definitely having genetic testing. One of  the things that are kind of an intangible benefit is even your own stress level. You would think that,  for instance, if you’re tested and you find out you’re not high-risk, you’re standard-risk, that’d be the  end of it, but it turns out, for instance, even with me, my doctors will actually modify—have  modified my treatments, even my maintenance treatments, because I’m not high-risk, and I have  very stable myeloma.

So, they’ll say, “Well, we’re going to de-escalate. We’re gonna take you off all these drugs. You don’t need all of them, so we don’t wanna over-treat, either.” Nobody wants to be over-treated with all the symptoms and things like that. When they initially said that, I was like, “Wait a minute, I’d rather just start adding drugs. Let’s just kill this thing.” But, that’s right, and I think the fact that I can go back to genetic testing and look at what he was saying about stability over a period of years and things like that just gives me more of a comfort level that that’s probably the right answer, and I don’t need to be taking all these drugs if they’re not gonna benefit me in the long term, or I could switch drugs if I need to.

Jack Aiello:           
So, I guess I’d summarize it by thanking you all. You’re all terrific examples of being your own best  patient advocate. If we aren’t advocating for ourselves, who else should? It’s really up to us, and the  good news is there are so many resources for good information out there.

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.