The value of hereditary cancer risk assessment in the community urology practice setting


Hereditary risk cancer assessments (HCRAs) are recommended in guidelines for men with prostate cancer, but how feasible are these tests in the real world? A new study investigates.

Neal D. Shore, MD, FACS

Neal D. Shore, MD, FACS

At the 2022 ASCO Genitourinary Cancers Symposium, Neal D. Shore, MD, FACS, presented findings of this prospective study, in which data was gathered from various community urology practice sites across the country that integrated HCRA.1 Analysis of process integration, post-integration, and follow-up was performed, and results showed that HCRA protocol was favorable in this setting. He discusses the takeaways of these findings in the following interview. Shore is the director of the Carolina Urologic Research Center, Atlantic Urology Clinics in Myrtle Beach, South Carolina.

Please discuss the background for this study.

This is one of the first large-scale, and by that, I mean a national-based study throughout the US, with geographical diversity of community-based urology practices that had a pretty sophisticated background of advanced prostate cancer care. What we were trying to understand—and this trial was started over 3 years ago—[was] how our colleagues in community urology in the US were evaluating hereditary cancer risk assessment, or in our abstract, we call that HCRA. We wanted to understand [what happens when] we add a new test, a new diagnostic, [or] a new biomarker, whether it's a blood-based test [or] urine-based test, and what exactly is the target? In this case, it was looking at germline alterations or the types of hereditary genetic alterations that one may pass down from either parent to the patient diagnosed with prostate cancer.

This was really one of the first undertakings to see, what would be the uptake? What would be the comprehension? What would be the clinical utility? What would be the response from both health care providers within the urology care team as well as with patients? And so, we divided this concept in the proposal into 4 segments. The first was an educational process over a month at each individual site, or what we call the “process integration,” to understand, why [we] do germline testing or hereditary cancer risk assessment. The second 4 weeks was to understand how it would be inculcated and/or incorporated into the practice. A third part post-integration [was conducted to answer the question:] How is it being used, not just by the [principal investigator] of the trial, but by numerous sub-investigators and nurses within the practice? Then, ultimately, a follow-up evaluation [was done to survey] both the study sites' staff, including physicians and allied health care personnel, as well as patients.

What were the notable findings of this study? Were any of them surprising to you or your co-authors?

Again, what's really important to appreciate [is that] this is really one of the first of the hereditary cancer or germline undertakings. I'm really proud of my co-investigators and my coauthors. I want to congratulate the leadership of Myriad for embarking upon this, especially in the busy urology community sites. The traction on this, I think, is really rather remarkable because most of the sites were, for lack of a better word, naive to how to incorporate this type of testing, and how to think about the educational implications to both the patient and their families. So, I think what I was really happy to see [was that for] patients who could have received testing, we saw about half of the patients were appropriately screened. And then, ultimately, what we found was a rather significant number of patients who ended up having actionable mutational pathogenic variants, or what we call 'PVs' – things such as a BRCA2, ATM, BRCA1, CHEK2, [or] HOXB13. There's more, and they come along in smaller numbers.

[What] was surprising is that of all the providers that were involved, 61% felt that this hereditary cancer assessment, or HCRA risk assessment, was really important, as well as the other assessments that were regularly performed, [such as prostate-specific antigen], histopathology and [digital rectal exam]. What I thought was very rewarding was that 68.3% said they plan to continue to use the HCRA process. And contradistinction of that, only 9.8% of the providers didn't think that HCRA was important. And so, I think this is really good. I understand everyone's busy and incorporating something new can sometimes be challenging, not only from a comprehension [and] educational standpoint, but an implementation standpoint, or throughput. This is a really great example of how, with not a lot of time requirement—essentially 8 weeks—these sites were able to be stood up in terms of getting their processes implemented and begin a program for hereditary cancer risk assessment, which clearly benefits not only the patient, but also [the] downstream implications for their family. We also found that 62% of the patients said they plan to share their results with their family members post-testing. So, I'm really proud of this effort. [It is] not only being presented at ASCO GU, but we're also planning to have it published shortly.

How will the findings of this study impact the way that you treat this population of patients in the future?

This is really important because we talk about the concept of precision-based medicine, and we're always trying to figure out better ways to risk stratify patients with newly diagnosed prostate cancer, particularly when it's localized. [For] our patients who have significant family histories of cancer—not just prostate cancer, but breast cancer, ovarian cancer, colorectal [cancer], pancreatic cancer, upper tract urothelial cancer—this is an important component to the evaluation, not only for the [patients themselves], but also for [their] potential siblings, their offspring, and [their] own offspring. If we can better inform form a first-degree family member that they have an increased risk of one of these hereditary cancer risks, isn't that a great thing? We may never directly hear about it as the ordering clinician, but what a wonderful thing to do to help this patient's offspring [to] be diagnosed and cured early of cancer in either prostate or one of the other organ sites associated with hereditary cancer risk. It also really adds to the burgeoning importance of recognizing that we're learning more about not just homologous recombinant repair gene alterations, but other gene alterations that we're doing ongoing clinical studies for that could further assist us with taking care of patients with precision-based targeted therapy.

What is the take-home message for the practicing urologist?

I think, very simply, the take-home message is [that] it's not a question of if you're going to start doing a hereditary cancer risk assessment, it's when. The answer is it's now. I would strongly encourage all my colleagues, both in the US [and] outside the US, to work with your organizations to get coverage and to get access. I applaud the NCCN and their liberalization of their recommendations for who should get hereditary cancer risk assessment [and] germline testing. The costs have come down tremendously over the years, and I'm a firm believer in the importance of democratizing access to germline testing, given the actionability. Even though we find actionable alterations right now in a minority of patients, nonetheless, if you're in that minority percentage, it's very meaningful to your patient-physician shared decision-making process, and then can also dramatically help your first-degree offspring members.

Is there anything else you feel our audience should know about this topic?

This is not a question of, "Let me think about this some more." Here's an example: In this study, we took, for the most part, busy US urology community-based practices and said, "You're interested. Let us give you the education." And, for the most part, the overwhelming majority took to it very quickly. Patients enjoyed the education and the learnings from it, and that was started just a few years ago. I think we're working right now in a very rapid adoption. Of course, depending upon your vantage point, some would like to see it sooner rather than later. But I think [this is] one of these early studies that we'll look back on and say, "This was really great that we did this,” because, perhaps, 2, 3, 4, 5 years from now, it should be inculcated and organized into everyone's practice.


1. Shore ND, Lenz L, Flake DD et al. Hereditary cancer risk assessment in the community urology practice setting. Paper presented at: 2022 ASCO Genitourinary Cancers Symposium; February 17-19, 2022; San Francisco, California. Abstract #278

Recent Videos
DNA | Image Credit: © -
Adri Durant, MD, and Mouneeb Choudry, MD, answer a question during a Zoom video interview
DNA helix | Image Credit: © Siarhei -
DNA strands | Image Credit: ©  Matthieu -
Keyan Salari, MD, PhD, answers a question during a Zoom video interview
Dr. Neal Shore in an interview with Urology Times
Related Content
© 2024 MJH Life Sciences

All rights reserved.