Patient-Centric Approaches: The Urgent Need for Genetic Testing in Prostate Cancer - Brittany Szymaniak

June 23, 2022

Alicia Morgans and Brittany Szymaniak address the intricacies of germline genetic testing in prostate cancer. They delve into the current NCCN and AUA guidelines, noting challenges in aligning these with practical implementation. Both experts highlight the lag in prostate cancer genetic testing compared to other cancers like breast and ovarian. They explore alternative models for pre-test and post-test counseling, as well as resource optimization amidst a shortage of genetic counselors. Szymaniak introduces real-world strategies such as point-of-care models involving urologists and oncologists, technology-assisted systems, and the Promise Registry—a comprehensive service for both patients and providers. Overall, the conversation emphasizes the urgent need to remove barriers and optimize the system to better accommodate the growing number of patients requiring genetic testing.


Brittany Szymaniak, PhD, CGC, Urology Department, Feinberg School of Medicine, Northwestern Medicine, Chicago, IL

Alicia Morgans, MD, MPH, Genitourinary Medical Oncologist, Medical Director of Survivorship Program at Dana-Farber Cancer Institute, Boston, MA

Read the Full Video Transcript

Alicia Morgans: Hi. I'm so excited to talk with Dr. Brittany Szymaniak from Northwestern University, at ASCO 2022. Thank you so much for talking with me today.

Brittany Szymaniak: Yeah, thanks for having me again.

Alicia Morgans: Of course. It's always a rare and exciting opportunity for me to be able to speak with a genetic counselor on here. So, I'm really thrilled to have you.

Brittany Szymaniak: Yeah.

Alicia Morgans: And one of the things that I love to hear from you are some of the ways that we can really think about getting germline genetic testing to our patients with prostate cancer. Can you go over for us, just to remind us, which populations of patients with prostate cancer are really recommended per NCCN guidelines at this point, and even AUA guidelines, to undergo germline genetic testing?

Brittany Szymaniak: Mm-hmm. So this is one of the eternal struggles that we've had with the NCCN guidelines ever since prostate cancer has been kind of put into this as a consideration in 2018 is, we've had kind of discrepant information. So over the years, we've been moving closer to consensus with the idea that anybody who has metastatic disease, high risk, very high risk disease, automatically is going to qualify for consideration, as well as individuals that have prostate cancer and are of Ashkenazi Jewish ancestry. So this is something that we would say, blanket for all of these patients, should be considering genetic testing with considerations then for individuals who have concerning family histories of things like breast, pancreas, ovarian, as well as people who have multiple generations of prostate cancer. So those are kind of the general populations that we would be recommending for testing now.

It's been a little bit more difficult, I would say, in getting people to genetic testing and even to genetic counseling, especially for this space. And I think we find ourselves in kind of a unique challenge in that prostate cancer genetic testing is almost kind of 10 years behind other cancers, things like breast, ovarian cancer, and we're in this situation where we're kind of trying to figure out how to do testing for these patients while we're learning about this information. And I think we're in the situation that we need to be doing or considering more alternative delivery models. So how can we be doing point of care for these patients where they're meeting with their urologist, they're meeting with their GU oncologist and getting that testing initiated, and then potentially meeting with a genetic counselor once those results are back? So I think that's going to be one of the big things that we're going to have to think about is how do we structure delivering this for patients that's going to actually meet all these patients that need testing now.

Alicia Morgans: And that won't tax the system too much because of course, there is also a shortage of genetic counselors and there are so many patients with prostate cancer, let alone all of the other cancers that you mentioned, including breast and ovarian.

Brittany Szymaniak: Yeah.

Alicia Morgans: So if we test every patient with prostate cancer and do upfront genetic counseling before testing, that to me, that's very striking, I think, as a high potential of overwhelming the system that already has a scarcity of genetic counselors. What are your thoughts there in terms of pre-test counseling versus post-test counseling? And that I would say we should acknowledge that you are a genetic counselor. You are extremely good at your job. And when we worked together at Northwestern, we did send a lot of patients for pretest counseling.

Brittany Szymaniak: Yep.

Alicia Morgans: But what are your thoughts on that concept overall, recognizing that we all have to operate in the systems in which we practice?

Brittany Szymaniak: And I think that's where having a good partnership between genetics and the GU oncology, urology is really important because not every model is going to work for every clinic and not every provider is going to be necessarily comfortable ordering testing upfront. And maybe they have patients that have a lot of questions or maybe they have a really complicated family history. So there's certainly scenarios where we can think about this traditional pre and post-test model. But I think because of the flexibility that we're getting with a lot of testing options now, with being able to add on testing, after initial results come back, within a certain window that's free of charge, we can really make sure that if they're getting to a genetic counselor within that window, that we can cover anything else that might need testing. So, I think I'm definitely a proponent of trying to find models that are going to work for a clinic.

So, if we can actually initiate that testing when the patient is there, that's going to increase the likelihood that we can actually get the testing done versus then having to try and refer them to a genetic counselor and then have them get testing. So, I think, how can we eliminate barriers for some of these patients, especially when it's going to become more relevant for treatment, very likely in the future, even more so than it is now?

So, I think for different clinics trying to figure out where they would have access to a genetic counselor that they can work with, even if it's at a laboratory of choice for them, if it's maybe in a hospital system that's close by, maybe if it's even a standalone telemed company that they can work with or a place that they can send patients to that will do that assessment for them and order testing for them. So, there's a lot of options that are out there and I think it's just trying to figure out what's going to work best, because the number of patients that we're going to be testing is not getting any smaller. So it's trying to optimize the resources that we have available.

Alicia Morgans: And that all makes sense. One model that we did in our clinic that was a shared clinic in the past, that I found really smooth, was that we would have a clinical visit with our patient and then some patients, we would talk about germline genetic testing, and some patients would say, that sounds great. I'm ready for a blood draw today. And our nurses could get that draw, get it all set up. They would have the kits in clinic, send them off and we would then refer positives to you. Other patients would say, I'm ready, but I just had a bunch of blood drawn. Can we do it some other way? And we would actually request from the company that they send a saliva kit to the house.

Brittany Szymaniak: Yeah.

Alicia Morgans: And then other patients would say, I have a really complex family history, or I would say, wow, that's a really complex family history. Let me have you see Dr. Szymaniak before we do any testing, just in case she wants an expanded panel for you. And that seemed to work really well.

Brittany Szymaniak: Yeah.

Alicia Morgans: But we actually had the kits, at least for those blood draws, in our clinical space and had access to the portal where we could get those saliva kits sent out to patients. So we really engaged with some of the companies to get that set up on the front end. Is that a strategy that you think works or how do you engage with those companies to get into their portals, to get your clinical teams really running on those things?

Brittany Szymaniak: Mm-hmm. So I would say that one of the things that's beneficial is, most testing laboratories are going to be more than happy to work with different teams to try and get set up with that process. So, even if it's not the situation like what we had set up where you have pretty immediate access to a genetic counselor, that you can help set that process up, is to maybe work with some of the genetic counselors that are at some of these laboratories to figure out how you can set this process up for your team, to figure out, how do we get kits, how do we set up with testing options? And I think this is also where there's room to try and figure out what type of testing do we do for patients? Do we try and do more targeted prostate cancer panel testing? Do we maybe consider more expanded testing? So, there's different ways that people can work with laboratories to try and make that happen, or work with a genetic counselor that might be in their area, even if they're not sending to them up front right away.

Alicia Morgans: That's great. And some of those laboratories and those testing companies actually have genetic counselors on the back end, you can talk through positive results or these chat-bot type things. Can you talk a little bit about that?

Brittany Szymaniak: Yeah. So different laboratories will have different, the way that I think it would be kind of systems in place where you can both assess the family history for a patient with one of these chat-bot systems, and then actually be able to determine if they meet criteria for testing, this is great if we have people that have more complex family histories, and then be able to order testing through this system as well and get those results released to you. So, I think of it more as one-stop shopping. It certainly will lock you into doing testing with that laboratory. But I think there are certainly pros and cons to that. And I think it's helpful if a team has figured out kind of a system that's going to work best for them. So, there's definitely that as an option and they even could go through and do different video setups for patients, or if they need to actually refer patients to the genetic counselors at that laboratory as part of kind of a comprehensive assessment.

Alicia Morgans: Which is so important, I think, because again, there is a shortage of genetic counselors and there's also a geographic limitation where patients need to be able to access this where the patient is, not necessarily where the counselors are, and there can be some huge barriers there. One final thing I wanted to mention before we kind of wrap up is the Promise registry, which is a registry specific for patients with prostate cancer that's been set up by some of the physicians at Hopkins and at Jefferson and University of Washington, really, I think a wonderful resource for patients. Can you tell us a little bit about the registry?

Brittany Szymaniak: Yeah. So this particular registry is a great option for providers that are looking for a way to get genetic testing for their patients, but don't really know where to start. So this is an option where patients can actually go online, they can look up the promise registry, they can do all of the consent, go through the details of the testing and actually be able to receive a kit for testing at home. They can do a saliva sample that gets sent in. They can actually meet with a genetic counselor. And the part of this that's great is it's all free because it's part of this registry and it's part of this study. So, that would be a great resource for patients that are out there that are interested in testing and for providers that are looking for a way to try and find something that's going to be a good option for their patients.

Alicia Morgans: So it's free and it also provides the counseling and the testing.

Brittany Szymaniak: Exactly. Mm-hmm.

Alicia Morgans: So, I think that is a really wonderful opportunity. And just from a science end, I know they're collecting all the data. There are some surveys and things that patients are completing on their knowledge base and some of their understanding of testing, which gives us really, I think, good information from a patient perspective of what they understand and where knowledge gaps may be. But they're also collecting the genetic data. So we might have new insights about prostate cancer over time. So really, really a powerful thing.

Brittany Szymaniak: Yeah.

Alicia Morgans: So as you think about this whole big, big process that we've engaged in the last few years, and I would say we've made some tremendous strides, what would your message be?

Brittany Szymaniak: Yeah, so I feel like we still have a lot to learn even though we've learned a lot in the last couple of years and we're still trying to figure out more information about these genes associated with prostate cancer. And I think a lot of the really good information is going to come from doing actual outcome studies with this genetic information, figuring out prostate cancer risks, figuring out what's the likelihood that somebody could have early onset cancer, more aggressive cancer, understanding more the biology of these types of tumors associated with these genes. So there's going to be a lot more to come. And I think it's just going to get more complicated, especially when it comes to somatic testing and treatment options. So I would encourage everybody to try and educate themselves or reach out to sources that they can find for education to get some more information about how we can build this into clinics a little bit better and figure out what patients we need to be testing.

Alicia Morgans: I think that's a great message. And I think ultimately the bottom line is, you can do it all in your clinical practice, if that works for you, you can outsource basically all of it, if that's better. And there's lots of areas in between is, at the end of the day, though, you need to get this genetic testing for patients with metastatic prostate cancer and for high risk and very high risk localized prostate cancer, that's all standard of care. And remember, for other localized prostate cancer patients who have an Ashkenazi Jewish heritage or have those family members who have breast, ovarian, pancreatic and prostate cancer, these are all going to be patients that we want to think about testing.

So thank you so much for bringing us up to date. And I hope in the next couple of years, we have another chat where we could talk about all the progress that we continue to make.

Brittany Szymaniak: Yeah, absolutely. It was nice to be here.