Genetic testing for prostate cancer: What findings from PROGRESS registry reveal


"Given the fact that this field has really expanded, we see that patients are engaging with genetic testing in various different ways," says Veda Giri, MD.

In this video, Veda Giri, MD, discusses notable findings from the study, "Factors related to men’s experience with prostate cancer germline testing," which was presented at the 2023 American Society of Clinical Oncology Genitourinary Cancers Symposium. Giri is division chief of Clinical Cancer Genetics for Yale Cancer Center and Smilow Cancer and assistant director of Clinical Cancer Genetics for Yale Cancer Center, New Haven, Connecticut.


The results were actually very interesting, some of which were surprising. Some of [the results] were reassuring in terms of how this field is rolling out. Given the fact that this field has really expanded, we see that patients are engaging with genetic testing in various different ways, whether it's by being referred to see a genetic counselor or a genetic professional, whether that information and testing is being delivered by their treating physicians, whether they're going straight to genetic testing laboratories and receiving some of that information from the laboratories and moving forward with testing. There is some direct-to-consumer marketing that's going on. So we wanted to explore a lot of these modes of delivery of genetic evaluation to men who have undergone prostate cancer genetic testing.

And just to give you some idea, because this informs the results, is that they took surveys about their knowledge of cancer genetics [and] their satisfaction with the process of how they went through their genetic evaluation and testing. [We asked], did they intend to share their results with their family members and their health care providers, and [we also asked about] their attitude toward it; did they find this was beneficial to them in terms of their treatment and care? We also put this in the context of medical literacy and numeracy, knowing that we have to be thinking about broad populations and making the information understandable.

So with all of that in mind, we recruited 500 participants to the PROGRESS registry. 87.7% of them were Caucasian men. The majority had college degrees. 76% indicated that they were married, and so we're also looking [at] ways to engage partners, families, friends, a network of support to help these individuals if there's challenges that they come across. In terms of prostate cancer, 46.9% of them reported a prostate cancer diagnosis. So this really was a nice split in terms of men that had prostate cancer diagnosed already and those individuals who did not and maybe were having genetic testing to help inform their risk of prostate cancer. Of those that had prostate cancer, 24.4% of them had a Gleason score greater than or equal to 8. The majority of them reported that they actually had some family member with any sort of family history of cancer reported. So there may have been a family history of breast cancer or prostate cancer, ovarian cancer, etc, in these families.

We asked them for information about their genetic results as well. 27.9% had pathogenic or likely pathogenic variants that were identified. 14.7% had variants of uncertain significance that they reported in their genetic testing. But importantly, and this was one of the surprising findings, is that 9.9% did not know their genetic results. These were individuals whose results had been returned to them. [We'd like to get] a better idea of why they couldn't recall their information. What other factors might be at play there? Maybe they're getting a lot of information about their treatment and screening and it's just a lot to process. We actually had a good sample of distribution for how these men received their genetic evaluation. Some of the most common ways that they indicated for genetic evaluation was that they met with a genetics professional, whether that was in person or by phone, followed by having their doctor discuss genetic testing with them. Another one was using a website that discussed genetic testing. This was very interesting to see and to dive deeper; was this through genetic laboratories or through other avenues of how technology may be being used now to help deliver genetic information to patients? When we looked at this information, what was interesting is that 8.1% of individuals said that they did not know how they received their pretest information for genetic testing. Did they receive information? If they didn't, that's something that definitely needs to be addressed in terms of adhering to standard of care. But if they did, then that means that the information needs to be reinforced, because for some reason, they're not retaining the fact that they got this information.

And then when we looked at some of the factors related to patient-reported outcomes, [we found] that satisfaction was lower for the Asian participants. This is something we definitely need to explore more about this process. What are the needs of Asian individuals who are seeking genetic testing, so that we can develop the proper resources and supports for them. Satisfaction was higher for those individuals who received their pretest information for genetic testing from genetics professionals or by their doctors. That was reassuring, because this is actually how things are rolling forward in practice. Also, decisional conflict was lower for those individuals who had discussions with a genetics professional, even if it was by phone. So that was really good to hear in terms of having greater access to genetic services, where in-person may not always be possible. This was expected, [but] cancer genetics knowledge was actually higher for those with higher education, with a family history of prostate cancer, or those that actually had mutations identified. It was also higher for those individuals who had their genetics discussions, even by their doctors, or by genetics professionals, even if that was by a genetics laboratory. And then, of course, those who felt that this was most beneficial were those who had mutations identified. Where it may not feel as beneficial is if there's uncertain findings, or negative results. Those were some of the key results.

We still need to dive into some of the root causes for some of these findings. But receiving pretest information by a genetics professional, whether that's by phone or in person, or by doctors, is reported to have higher satisfaction and lower decisional conflict. And that's really great because it does support these alternate delivery models to enhance access to genetic testing, and also supports these points of care approaches in terms of where the testing is happening in the health care providers' offices, and really ensuring that patients and providers practices have the right resources to be able to engage in this discussion. I think what we really need to do is study broader populations; we need to dive deeper into some of these challenges that are faced by broad populations, such as some of the results we saw for Asian men who participated in this study. We also need to have broader representation. We definitely need to have greater engagement of African American men, Asian men, etc, to make sure that the results are translatable, and that we can develop proper resources across populations. That's going to be an important next step for us to do. We're planning to publish our findings first and really launch into the next steps at the same time.

This transcription was edited for clarity.

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