HRR Mutation Testing in mPC
Transcript: Disparities in HRRm testing access
Neal Shore, MD, FACS, and Alicia Morgans, MD, MPH
Interview recorded November 2025. All transcripts are created from interview footage and directly reflect the content of the interview at the time. The content is that of the speaker and is not adjusted by Medthority.
- [Alicia] Hi, I am so excited for another of our Expert exchanges in HRR testing and metastatic prostate cancer. Today I'm delighted to have Dr Neal Shore to talk about bridging the gap, addressing disparities in HRR testing access. We're going to talk about these challenges that our patients face and that we face as clinicians trying to ensure equitable access for this testing across all of our patients. And Neal, thank you so much for being here and for talking about such an important topic.
- [Neal] Well, thank you so much, Alicia. Yeah, I think as healthcare providers, you know, no matter where you are in the world, we don't want to see disparity. You know, when you have cancer, let alone advanced cancer or high-risk, localized, you want to have access to all the information. So I really like this notion that we're talking about today is, how do we address these disparities? And there clearly are disparities.
- [Alicia] Absolutely. So, you know, when you think about it, what are the most significant disparities that you see in HRR testing across different geographic regions, racial groups, and medical specialties that you think about?
- Yeah, this is a really important question because there are geographic differences. There are racial. There are specialty. Let me kind of give you my impression from the years of work I've been doing on this. Not surprising when we think about patient populations and healthcare just kind of in general, wealthier populations tend to get access. They can afford testing. Some countries it's covered or there's insurance policy for it. Others, there may be some policy, but it's still very expensive. So I think by and large, our less fortunate socioeconomic patients are hampered. They can't get the testing. I think that there are institutional differences, and that oftentimes in our more sophisticated academic institutions, our medical centers, the testing tends to be more prevalent as opposed to going out into the community. Certainly more rural parts of the community, some of the less educated, and I don't mean that the healthcare providers aren't as smart, they just haven't been up to speed, up to the most recent data where testing can really influence treatment decision-making with regulatory-approved therapies or even access to clinical trials. I think historically, the specialty of medical oncology has been more aware of the importance because of covering a breadth of solid tumors such as breast and ovarian and pancreatic and endometrial, colorectal, lung. They do a lot more of that testing. Most recently in the last several years, we've seen prostate is an important area for testing both hereditary family and also within the tumor itself, whether it's tissue or blood-based. And then of course, you know, the issue of reimbursement, the more developed countries frequently can find methodologies. Not always. There are gaps and there are disparities, you know, in the US and Western Europe. But it's much harder in developing countries because of access to the economic coverage.
- [Alicia] I couldn't agree more. And you know, one of the things that I find fascinating when I speak with people in different institutions, whether here in the United States similar to you or whether it's with colleagues in Europe or in other parts of the world, there are some regions, some institutions, some countries that require, in order to get germline testing at least, a visit with a genetic counselor, which also can emphasize disparities because there's a paucity of genetic counselors and they're not available at all places. If they have to see every patient before every germline test is performed in a particular setting, they can be overwhelmed. There can be huge wait times for them. And this is an area that I think is also interesting, something that some groups have been able to overcome with remote testing or with brief pre-test counseling, and then post-test counseling for people who have these mutations who can have then more extended education. But even having access limited by the type of provider or limitations within a country or regulatory issues can also be a challenge.
- [Neal] I think that's an excellent point. Yeah, there are some countries that say, you can only get somatic testing, or we'll only cover germline hereditary testing, or we may not cover a blood-based somatic tumor test, only the tissue. So that creates barriers to entry. Your point about the genetic counselors is an incredibly important one. Look, if we had ubiquitous everywhere availability for a certified genetic counselor, that would be nirvana, but we don't. I mean, in the United States, a population of around 340 million people, we only have 5,000 certified genetic counselors, of which half of them don't focus on cancer oncology. They focus on fertility and reproduction concerns. There just isn't the person power for the throughput. So it's beholden upon us as healthcare providers, whether we are physicians or nurse practitioners or physician assistants. And also telemedicine, telehealth, many of these companies that offer commercial tests, the germline hereditary, the somatic tumor, high-risk, localized, metastatic, they have telemedicine, oftentimes free capabilities to counsel patients. But I would argue that it's beholden upon us as healthcare providers that we need to become comfortable with getting the test, the why for getting it, and then how to interpret the test. And I think we're really getting beyond the medical legal concerns, but those are still important barriers.
- [Alicia] Yeah. Great. Well, thank you for kind of thinking that through. You know, beyond the tests themselves, there's definitely a difference in the way all of our practices seem to time those tests. And there may be differences between urology versus medical oncology timing or certainly by country. But I wonder how does the timing of HRR testing vary from your perspective across different patient populations, and how does this become more of an issue even in some settings where there might be urgency to having access to testing, treatment decisions that need to be made, and what challenges can arise there?
- [Neal] Well, you know, I'm just going to be very clear, I'm a tester. I believe in getting the information. And if we take an approach for a minute and say, wait, let's just say that economics, cost of the actual test itself is not an issue. Why would we want to have this information? If we think about prostate cancer, when we think about patients who have high-risk, localized disease and/or metastatic and/or a very significant family history, about 10% of the time when we do a germline test, we're going to find something that's actually very informative eventually for the patient. But at the same time, in that 10%, we could be informing the family members. That's called cascade family testing. So I think it has to be done right away. I'm a big believer and proponent of universal democratization of germline testing. And the reason is, more than anything else, it can inform family members. So if I've got prostate cancer and I'm 65 and I find out I'm BRCA2, and then I get my daughter get tested and I find out she's BRCA2 and I can pick up an ovarian cancer or a breast cancer early when it's curative, oh my gosh, that's huge. Likewise, maybe I get my son to discover his early pancreatic cancer or his early male breast cancer or his early prostate cancer. I don't think one needs to do a budget impact model to recognize a test that's just a couple of hundred dollars in the US, maybe more outside the US, I don't understand why that is, but just that alone. Now, the other thing, Alicia, is we still are in an educational void where many physicians don't really understand the difference between hereditary testing, germline, you know, what we've inherited from our mom and our dad. The zygote composed of the egg and the sperm versus de novo mutations of the tumor itself, or somatic alterations. Those become important later on if you're the patient with metastatic disease, because we have correlative therapeutics for certain HRR and other mutational findings. So that's where it becomes really important. So I'm a big believer in testing early, testing when the tissue hasn't been exhausted, it hasn't been contaminated, we haven't lost adequate nuclei for evaluation. And I want to know in my back pocket or my toolbox or my armamentarium what I have available down the line for certain patients who have actionable pathogenic variants.
- [Alicia] Yeah, no, I think that these are such critical ideas and critically important tests. And I wonder, are there systemic or logistical barriers that you think may be reducing access and limiting the timing for certain patient populations to get these germline and somatic tests that we might use some creative approaches to overcome or that you faced in your own practice, in your workflows, and have been able to overcome?
- [Neal] Like I was saying earlier, and I was very, you know, fortunate and privileged to get the AUA, the American Urologic Association, this year in 2025, we actually had a plenary presentation on testing in prostate, bladder, and kidney. And I think it was abundantly clear from the presentation that we did that we feel that universal testing for germline is appropriate in prostate, like it is right now in female breast cancer, ovarian cancer, pancreatic cancer, endometrial cancer. And so I think one of the important strategies to overcome this is getting the guidelines organizations, the AUA, the National Comprehensive Cancer Network and others, to say, you know what, the time is now. Yeah, we may only find it in 10%, maybe a little bit high. It's around 15% across these tumor types that I just mentioned. Prostate is no less. And then it also teaches our colleagues that, wait a minute, we can't just stop at germline, because if your germline is negative and you later on go on to have metastatic disease, and if you stop the germline, you'd miss 50% of the actionable alterations, mutations in somatic. So you now have to learn that there's the germline component, what we inherit from our mom and dad, and what the tumor itself expresses in alterations. So it's just those two classes in addition to the cascade family testing. So, long story short, basically, our associations have to put it into the guidelines. Once it gets in there, then the advocacy groups see it, the insurance companies see it, and patients, the savvy patient, social media is where it's helpful in some ways. I'm not always the biggest fan of social media because there's a lot of bad information on it. But if our trusted guidelines organizations adopt it, that's how we're going to make a difference.
- [Alicia] That makes a lot of sense. So education of the purpose in terms of counseling families, in terms of treatment decision-making, ensuring that this is in the guidelines, including those in the US but also EAU and ESMO, which have also incorporated these into their guidelines. Ensuring policy has sort of interpreted this as well as being something important and incorporated into their systems to cover it, because these can be expensive tests. These are all really important. Now, I wonder, there are certain communities, cultural beliefs, thoughts, and mistrust in some situations and skepticism around genetic testing, around the potential harm that germline testing in particular could do, or that that information could be lost or used in an untoward way. Are there education opportunities there, whether through patient advocacy organizations or other to help address some of that? Are there strategies you use in your own clinic if a patient says, "You know what, doc, I just don't feel like I want to get involved with that." What do you use or what do you say?
- [Neal] Well, I think it's very important. I'm a big believer in, you know, it's shared decision-making. If a patient says, no, don't want to know about it, I respect that. I think that's a very small minority of patients. I think, you know, as Francis Bacon said, knowledge is power. And I think people really want to have information to then make the decision of what do I do with it? I respect somebody who says, no, you know, I don't want to do XYZ therapy. I don't want XYZ intervention, surgical or radiation, even though I may think it's in their best interest as I do, you know, getting as much information about my genetic composition is. But I think that's a personal decision. I don't think that we should allow for insurance companies to penalize people for having certain alterations, mutations. I think that needs to be across the board banned, or getting a job for that matter. And I think a lot of that is really gone by the wayside, but people need to better understand that, and that means we need education on that. You know, I appreciate that you said that this is a global, international imperative. So, you know, having, you know, our APAC colleagues, LATAM, clearly, you know, Europe and North America, we all have to be in this together. You know, we live in a time, a political time where there's a lot of pluralism and politics, but we're all healthcare providers. And so when you have a cancer, nobody cares what's stamped on your passport. You just want to get the best of care.
- [Alicia] Yeah, I couldn't agree more. You know, one strategy that I think I have seen used successfully is engaging other members of the team too, and using a multidisciplinary approach to provide information over time for people who are curious, don't know all the details, interested to learn more, but maybe also want to ask other team members. Sometimes doctors can be intimidating or the patient just connects better with one of the nurses or the nurse practitioner or the physician's assistant. And having many members of the team understand the importance of genetic testing I think can be really helpful. Whether it's the patient or maybe a loved one who wants to ask a question, perhaps not necessarily just of the doctor, but of one of the other team members who they may feel more trusting in or more closely aligned. So I think there are lots of ways that we can try to get this information to folks. And I did mention I think the advocacy organizations can also be a great lever to pull in terms of educating patients and ensuring that everybody has access to this information as you've explained, that is so important to these treatments, you know, and also, of course, to family information. So one other thing as we start to wrap up that I want to get your thoughts on is that because of differential testing around the world, different populations have different amounts of information in terms of their variants of uncertain significance or those genes that are clearly identified as being pathogenic. And there are certain regions of the world and certain populations that seem quite tested, databases are filled with information from certain populations, whereas other populations maybe we're just scratching the surface and much more information will be needed to really get us a better understanding of what may be pathogenic in other populations, if there are differences between groups. And there certainly seem to be in terms of prevalence of certain mutations. And I wonder from your perspective, are we making progress in trying to get genetic information that is more broad-based, that is reducing some of the disparities in our knowledge base as we are also trying to reduce disparities in testing?
- [Neal] Yeah, great point. But you know, I really love your earlier point. One of the challenges I saw when these reports were first coming out was that they were awfully complicated and they were a bit of an acronym word salad, you know, very confusing, you know, 20, 30 pages long, lots of abbreviations. You know, for the physicians and the busy healthcare providers, we need plain-language summaries. We need to get to the point. You know, we have a person power shortage and a graying of the world with people have more oncologic issues. It's not just in geo-oncology, it's across the board. We need to simplify, not overly simplify, but simplifying it enough, case-based vignettes of what it really means if you are BRCA or another alteration. So I really liked your point about that. As it relates to discrepancy and what we know in our knowledge base, it's absolutely true. Most of our work has been done in, you know, white European populations. There's an enormous amount of knowledge gaps that we have in Asian populations. You know, we tend to just lump in our demographic charts "Asian." Well, there's, you know, over a hundred different ethnic racial groups of Asian populations. Likewise, we talk about the black or the African. There's African American, there's African Caribbean, there's African Latino, there's Hispanic black, Caucasian Latino, there's African African. Two of the worst biologic variations where we find enormous, fascinating mutational alteration is in the Afro-Caribbean and the Sub-Saharan African population. But it's still very poorly studied. So I just think we're at the tip of the iceberg, to your point, which is why we need to have a really concerted effort by organizations like the Lancet Commission and others. We need to better understand that what are these really interesting and remarkable and potentially very actionable alterations, both for the patient and their family members that we can do better, find targets and be more precision-based. And an enormous opportunity is in genetic analysis.
- [Alicia] Great. Well, thank you so much for sharing your thoughts. Certainly we want to expand access to HRR testing across all races, across all regions, both in germline and somatic testing. We advocate, of course, for education through dissemination of this information through our guidelines agencies, through recognition that this is something that needs to be covered and incorporated into all patients' care. And the future is not just in clinical testing, but in increasing our understanding of different populations and the mutations that may be driving cancer in them. So thank you so much for sharing your thoughts and helping us think through this incredibly challenging but important topic.
- [Neal] My pleasure, Alicia. Thank you so much.
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