Podcast 4: The patient’s perspective on molecular testing in prostate cancer
Dr Rana McKay (USA) and patient advocate Tom Hulsey (USA) discuss the importance of diagnostic testing for patients with prostate cancer and how to best communicate testing options and results with patients.
- [Rana] Welcome. I'm Rana McKay, a medical oncologist based in the US out of UC San Diego Health and your host for today. This is the last podcast of a series of podcasts on medical education awareness around prostate cancer. And this podcast will focus specifically on the patient's perspective on molecular testing in prostate cancer. Precision medicine or targeted approaches based on biomarker positivity is increasing in use and revolutionising prostate cancer care. Across this podcast series focusing on medical education for prostate cancer, we'll be diving into the world of diagnostics and prostate cancer, raising awareness on the importance of considering molecular testing for patients with prostate cancer, and addressing key knowledge gaps, all while providing a variety of perspectives from different specialties and regions of the world. Previously, we have covered a review of genetic and genomic testing guidelines, discussed how the identification of HRR BRCA mutational status may impact patient outcomes, and looked into testing techniques available for the mCRPC molecular testing paradigm in line with updated guidelines. So for a comprehensive dive into these topics, please go back and listen to our previous podcast sessions. Today, however, we're going to discuss genetic testing from a viewpoint of the patient. Today I am joined by Tom Hulsey, a patient advocate based in the US and member of AstraZeneca's Patient Partnership Programme on prostate cancer. Tom, do you wanna introduce yourself?
- [Tom] Yes, thank you, Dr. McKay. I was diagnosed with prostate cancer on my birthday in 2015. All I could think about at that time was death. I had just witnessed my best friend lose his life to prostate cancer. He had a four-year battle and it was absolutely gut-wrenching and I did not want to go through what he went through. And because of that, I was very isolated and overwhelmed. I didn't talk about it and, again, I was just in a really dark place. But looking back, one significant difference between us was early detection. He skipped a year in getting his PSA checked and I owe these past nine years of my life to early detection. I was very fortunate. And now today I think about life, the people that are dedicated to life, and those who want to extend life. Since I was diagnosed, the landscape, as you said, has expanded for prostate cancer diagnostics. It has changed a lot since I was diagnosed. Back in 2015, all I knew was PSA, DRE, biopsy, and the Gleason score. What I have learned is that the new biomarkers have been identified and developed to help doctors determine how likely the prostate cancer will be found in a biopsy, such as the PCA3 and the 4K test. What this means to the patient is these new biomarker tests will decrease unnecessary biopsies and increase the likelihood of prostate cancer detection.
- [Rana] Thank you so much for sharing that. I know it can be very, just kind of the rod gets pulled out from under you when you get that cancer diagnosis. I think that it's really important for us to lean on one another, lean on, you know, the resources that are out there within the community to help empower patients really around that vulnerable time in their diagnosis. You know, to speak a little bit about that, we talked about these genetic tests, their use in clinical practise, and how would you say the experience with genetic testing has impacted you? You know, sometimes when patients are first diagnosed, that's when, you know, patients are being informed about, "Okay, well, we could do this genetic test and that genetic test." And I just wanna understand, is it overwhelming to have all of these tests offered to you all upfront and sort of thinking about the timing, you know?
- [Tom] Well, when I was first initially diagnosed, as with any man, it is very overwhelming and you have all this information that's thrown at you. You're still in a state of shock really, and so it can be very overwhelming. However, back when I was diagnosed, genetic testing was really not available. But I have learned a lot since then and I really think a good way to educate men on genetic testing and the other avenues that he can pursue is clinicians should encourage engagement with professional or community-based resources, including patient advocacy groups like where I'm involved with today.
- I think that that's absolutely critical to be involved with patient advocacy groups and getting plugged in in that regard. What would you say sort of around the time of your diagnosis, based off of the experience that you had, like, what's the best way to educate patients about genetic testing? What are sort of strategies that resonated with you across your experience or maybe things that you wish would've happened or would've been discussed in a certain way? Because I think it's important for providers and clinicians to understand, you know, how to broach the topic of genetic testing with our patients and what's the best way to deliver the information around genetic testing for a given individual?
- Well first of all, there's a trust issue involved here and I think that it is very important for the patient to feel comfortable and trust the team. And I think one way to help with that trust issue would be to encourage the patient to get a second opinion, if you will, so they have a better understanding, getting a different perspective on treatment options. Again, I go back to patient advocacy groups and other community-based organisations to get educated because these are organisations that the person trusts, if you will. So I think developing that trust and trusting your care team and the treatment plan is important and I think seeking a second opinion would help with that trust and also peace of mind for the patient when they're educating themselves about the different treatment options, including genetic testing, because an educated patient is an empowered patient and I think it's all about empowering the patient.
- [Rana] When we talk about genetic testing, you know, something that sometimes comes up is the family risk component. What's the best way to talk to patients about testing, to get the family history in a way that's culturally sensitive, you know, across different cultures and areas of the world? Sometimes family history is not really discussed too much about people who may or may not have had cancer in their past. So what do you think is the best way to address the family risk component with our patients?
- That is a tough one, and I agree with you right there. A lot of it has to do with culture. I fortunately knew my family history, but I know a lot of men, especially in underserved communities, may not know their family history and it can be embarrassing to talk about it or to even bring it up with family members. But the way I think you can help overcome that is talk about what it can mean to your family, you know, whether or not you can pass it on, in addition to helping the doctor defy your risk. And also, too, another way is avoiding certain treatments. But, again, it goes back to being really comfortable with your family. I'm not sure if I'm really answering your question directly or not 'cause that is a hard one, but it does come down to culture and, in many cases, there is an embarrassment.
- [Rana] Yeah.
- [Tom] It's embarrassing to talk about it.
- [Rana] No, absolutely. When I think about genetic testing, certainly, the family risk component comes up, but there's multiple reasons to do genetic testing for any individual who's got, you know, advanced prostate cancer. So, you know, this comes down to, one, the testing can be prognostic, meaning it can inform how somebody may or may not do. It's predictive, meaning it can inform therapy selection for any given patient. It can inform cascade testing for family members, for first-degree relatives, and it can also inform secondary screening strategies if that individual were positive. So I think a lot of times when people hear the word genetic testing, they may say, "Oh, that doesn't apply to me. That's just, you know, for testing family." But it's really beyond that. There's actually tremendous implications for the patients themselves from those four reasons to do it that I sort of highlighted. But I agree, it's important for our clinicians to certainly present this data in a culturally sensitive fashion and a lot of times even starting out by saying, you know, "What's your understanding of genetic testing," so that you can understand where the patient's at, try to bridge the gaps in knowledge, and then help relay the information around the pros and cons of genetic testing.
- [Tom] I think it's important, too, you know, when the clinician is discussing the treatment options, you know, you talk about the patient himself, you know, there's other factors involved, life expectancy, comorbidities, preferences, and tumour characteristics. So, again, I think this is all about educating and empowering the patient.
- [Rana] So maybe you can tell me some of the things that a clinician should keep in mind when actually communicating about genetic testing with their patients. How would you say, you know, things that, as a doctor, we need to make sure we are mindful of, cognizant of, when we're discussing genetic testing with patients,
- [Tom] There's several questions that I encourage doctors to be prepared to answer for their patients which I think would develop a level of trust and comfort, and some of those questions, if I may, include: Has the cancer been tested for all biomarkers? When is a tissue biomarker test necessary? Why? When is a blood biomarker test necessary? How can I get a copy of my biomarker testing report? Who will explain my biomarker testing results to me? And is cancer biomarker testing the same as genetic testing for inherited cancers for my children and my family? And will I have to have more biomarker testing?
- [Rana] Those are all excellent questions. I think it's really important to kind of touch on those and demystify the whole process. You know, tissue, blood, when to do tissue, when to do blood, how do I get the results, how does it impact me, I think are all really important questions to keep in mind as we communicate with patients about genetic testing. And maybe you can describe for me the diagnostic testing process from biopsy to results. We started to talk a little bit about that. How do you communicate the test results to patients? So sort of walk me through that, and I'm more than happy to share as well.
- Well, first of all, let me just say that the patient advocacy group that I'm part of adheres to NCCN and AUA guidelines and we educate our patients on when they should be tested and so that they can talk to their doctor and the doctor should refer the patient to a genetic counsellor. And, ideally, when a patient meets this NCCN criteria, they should get genetic counselling. But I'd like to get your perspective, Doctor, on possibly the flow.
- [Rana] Yeah, very good question. So I think, you know, we'll talk about the tissue flow, we can talk about the biopsy flow. So with regards to the tissue flow, I think sometimes when patients are first approached, they're like, "Well, I just did a biopsy. Do I need to undergo another biopsy? What do I need to do?" And so a lot of times, the biopsy specimens or maybe from a surgery that was done where there may be tissue, they're actually stored in the pathology department. So a lot of times, there may be an attempt to just try to use some of the old tissue that was previously collected for some other standard of care procedure. Now, some of that tissue may have been collected many, many years ago, may not necessarily be available, or there may not be any tumour remaining in the specimen. And in those situations where we wanna get a look at what's actually happening right then and there or the old tissue's not available, a new biopsy could be done if it's safe and feasible, and generally from a soft tissue location is preferred over a bone location. Now, it's not always feasible to do biopsies, and quite honestly, biopsies are invasive and they may be associated with increased risk. And in some scenarios, doing a blood test that looks for circulating tumour DNA may be a way to also look for genetic alterations that are within the tumour. And that's just done via a simple blood test. Usually these tests are ordered either from tissue or blood. And a hereditary test looking for hereditary genetic alterations actually doesn't even test the tumour, it just tests your normal cells, and could be done off of saliva or it could be done off of just a blood test. And so once the tissue or the blood is collected, it's sent off to a lab that then processes the specimen and does the sequencing. And if there's enough tumour that's in the specimen, then they're able to report out on the genetic profile of the tumour. Sometimes it could take a little bit longer with a tissue test to get results as opposed to a blood test. A blood test, usually the turnaround time is a little bit shorter for a blood test than a tissue test. And typically the clinician will get the test results and communicate with the patient, reviewing the alterations that are what we call pathogenic or likely pathogenic, 'cause sometimes we find things in the blood or mutations that we see that may not necessarily be relevant to the cancer at hand or they may be mutations that we really don't know much about that have never been associated with a cancer before. So your clinician will kind of review that data. You know, were there any genetic mutations that were found? And if there were some that were found, which ones were they? And were the ones that were found what we call prognostic, meaning do they inform how somebody may do? And I think what most people are interested in is were they predictive? Meaning if you have such a mutation, can it, in fact, predict that you would respond to a certain drug? In which case, it can help your doctor with selecting a therapy for you down the road. So I think that's generally the process. I think it's really important to be transparent with patients about, you know, how to collect the tissue, where is it coming from, how to collect the blood, where is it coming from, what patients need to do, and ensuring that there's kind of closed loop communication with the patient once the test results come back and they're reviewed with the patient. So I think that closed loop communication throughout the way is really important. And a lot of times, there's other members of the healthcare team that are involved, like our nursing team or nurse practitioners or even pathology, that's involved with some of these steps to help ensure specimens are collected in the right way and results are reported in the right way.
- [Tom] So from the patient perspective then, if I'm understanding you then, these genetic markers help in the understanding of the individual profile, which influences both prognosis and treatment strategies, including more targeted treatments?
- [Rana] That's correct. Certainly right now there are several drugs that are FDA approved and approved in Europe and across other regions that, based off of the genetic mutation that is found, whether it be BRCA, BRCA1, BRCA2, or other genes, that would predict sensitivity to PARP inhibitors. There's also sensitivity to immunotherapy. So I think it's critically important to identify those alterations to expand the treatment armamentarium for any given patient.
- [Tom] There's some concerns, I know this is still an evolving area, from my perspective as a patient advocate, as you talked about, is the sample, is it archived versus fresh? Challenges in sample selection, blood versus terminal versus circulating DNA. But also a concern I have is the cost effectiveness of genetic testing and the shortage of genetic clinics, especially in low and middle-income countries. And I think that having that availability to genetic counselling in the early stages after diagnosis is critical.
- [Rana] Yeah, no, that's absolutely true. I think the historic model of just sending anybody who needs genetic testing to a genetic counsellor to do the pre-test counselling, get the test, and do the post-test counselling is really not a viable model in our modern era, because as we're learning more about, really, tumours across the spectrum, there's a lot of indications for germline testing across many solid tumour and hematologic malignancies and we need a system that is more nimble, meets the patients where they are, and isn't archaic in its, you know, infrastructure where it requires kind of a physical visit with a genetic counsellor and then another visit with another genetic counsellor. So there have been tools that have been developed, video tools, online tools. You know, a registry that I'll highlight is called PROMISE and it's a online registry where patients can go to a website, watch through a video about what genetic testing is, and if they agree to do the genetic testing, they kind of fill out the forms on the computer and then they're mailed a kit, they swab their cheek, and then mail it back. Now, that may be a platform that may be executable in the US in well-resourced areas that may not necessarily be a platform that may be applicable to strategies in lower-income regions or areas where there may not be internet, there may not be computers, there may may not be these things. So I think it's important to think about the context in which this is happening. But what I would say is we're increasingly utilising clinicians, urologists, medical oncologists, radiation oncologists, to do that pre-test counselling in the clinic, supporting the pre-test counselling with, you know, culturally sensitive video material, paper material. And then in the context of somebody actually coming back having a positive mutation, which the rates of positivity at the end of the day are actually quite low, on the order of maybe around 10% for people with advanced disease, you know, reserving referral to genetic counsellor just to those positive individuals or maybe individuals that were found to have something but we just didn't really understand what it meant and we need more clarification about the test results. How do you feel about the integration of sort of these other ancillary tools like video and doing almost at-home testing, if you will, with various tools as opposed to in-person pre and post-test counselling?
- [Tom] I think that's very exciting. But to your point earlier, though, in countries like the US, I think that's feasible, but in some countries, that may not be. But it is very exciting to me and really what this means to the patient is biomarker-driven therapies that have brought the field closer to the goal of being able to implement precision oncology therapy for every patient. So that's exciting.
- [Rana] It is really super exciting. We've learned so much over the last decade about the genomics of prostate cancer and it's great to see several molecularly targeted options for patients with advanced disease. And I think that list is only gonna grow and expand as there's more understanding about the disease biology, as there's better drugs. So I think it's really important and I think it's critical as this revolution is happening that we are partnering directly with our patients, seeking their input and advice, to make sure that these pathways and the rollout of various testing paradigms, the implications of it, is really kind of well thought out with input from our patients. So thank you really so much, Tom, for joining us today for this discussion where we really went through and highlighted the patient perspective, the patient journey, from diagnosis and how to optimise communication around genetic testing between patients and their clinicians, how to talk about, you know, the sensitive issues of the implications of genetic testing for family, and then, you know, just sort of going through the workflow, what patients may expect just with the diagnostic testing process.
- [Tom] It's a real paradigm shift.
- [Rana] It absolutely is a real paradigm shift. So firstly, I'd like to thank my fellow speaker for their time and fantastic input throughout this podcast episode. After this podcast section, I feel like we can all walk away with a greater understanding of the relationship between patients and genetic testing and hopefully this will drive us to implement testing as widely as possible in our centres and optimise patient education around genetic testing and its implications. As my final remark today, thank you to all of you listening to this podcast today. If you've enjoyed listening in on our discussions today and you've missed the previous three podcasts, I encourage you to go back and listen to them too. You wouldn't wanna miss them. Thank you so much.
Meet the experts
Dr Rana McKay is a medical oncologist specialising in genitourinary tumours. She serves as an associate professor of medicine and urology at the University of California, USA, associate director of translational sciences, interim associate director of clinical sciences, and co-lead of the genitourinary oncology program, where she conducts research focused on developing novel therapies for people with advanced prostate and kidney cancers.
Disclosures: Consultant/advisory board fees from Ambrx, AstraZeneca, Aveo Oncology, Bayer, Blue Earth Diagnostics, Bristol Myers Squibb, Calithera, Caris, Dendreon, Exelixis, Johnson & Johnson, Lilly, Merck, Myovant, Novartis, Pfizer, Sanofi, Seagen, Sorrento Therapeutics, Telix, and Tempus. Institutional research funding from ArteraAI, AstraZeneca, Bayer, Bristol Myers Squibb, Exelixis, Oncternal Therapeutics, and Tempus.
As both a patient and advocate, Tom is passionate about using his lived experiences to fuel positive changes and impact the health of our world. Tom has a passion for healthcare and improving the collective quality of life. He has learned that the more advocates are involved, the more their advocacy can serve the community and contribute to future advances for people with cancer.
Disclosures: Nothing to disclose.
Dr Rana McKay
Tom Hulsey