Genetic Counseling in Prostate Cancer - Brittany Szymaniak

July 26, 2019

Alicia Morgans discusses genetic counseling in GU cancers with Brittany Szymaniak.  This conversation includes the challenges, the benefits, the concerns of genetic testing and how this is accomplished in clinical practice for people who have genital urinary malignancies, so prostate cancer, bladder cancer, kidney cancer.  They also discuss the family syndromes for men with prostate cancer that should be considered as important.  They review the guidelines recommending which men with high risk, localized prostate cancer and the men with metastatic prostate cancer who should be tested.  They talk through the differences of genomic testing of the tumor itself, versus the testing of the DNA inherited by the patient and the value of these two different tests.  Brittany also shares resources available for the counseling and testing of patients in areas where they may not have accessible clinics stressing that the services are available through the Society of Genetic Counselors.  


Alicia Morgans, MD, MPH, Associate Professor of Medicine in the Division of Hematology/Oncology at the Northwestern University Feinberg School of Medicine in Chicago, Illinois.

Brittany Szymaniak, Ph.D., CGC, Genetic Counselor, Northwestern Medicine, Chicago, Illinois, United States.  Brittany Szymaniak is an instructor in the Feinberg School of Medicine. She received her Ph.D. in Genetics from the University of Rochester in 2016 and her master’s degree in Genetic Counseling from Northwestern University in 2018. Her doctoral work focused on better understanding the consequences of loss of ATM on glial precursor cell biology in the neurodegenerative condition, Ataxia-telangiectasia. Brittany currently works in the Urology department at Northwestern, where she provides comprehensive risk assessment, genetic counseling, and follow-up care for individuals with prostate and gastrointestinal cancers. 

Read the Full Video Transcript

Alicia Morgans: Hi, I'm thrilled to have here with me today, Brittany Szymaniak who's a genetic counselor in the Department of Urology at Northwestern Medicine where we work together. So nice to have you here.

Brittany Szymaniak: Thanks for having me, Alicia. I really appreciate it.

Alicia Morgans: Of course. So I am so excited to talk with you about genetic counseling, the challenges, the pluses, the minuses, how we do it in real practice for people who have genital urinary malignancies, so prostate cancer, bladder cancer, kidney cancer. So where do we even start? How do you recommend that we even start thinking about genetic counseling and GU cancers?

Brittany Szymaniak: Yes. So I think that's really one of the challenging things that we have right now especially for prostate cancer because it's such a new area for genetics. And a lot of the criteria that we've built through places like NCCN are based on syndromes so things like hereditary breast and ovarian cancer syndrome or Lynch syndrome. But with things like prostate and other GU based cancers, it's more based on family history. So we don't really have cancer specific recommendations.

So things that I like to think about for who should we be recommending is, are we having family members who have prostate cancer with things like ovarian cancer in the family or pancreatic melanoma, colon, breast, things like that under the age of 50 for particularly colon and breast cancer? Is there Ashkenazi Jewish ancestry that would make us think more something like hereditary breast and ovarian cancer syndrome? Are there more than a couple of first degree relatives in the family that have prostate cancer? So things like that really kind of bring up a flag for us from a genetic standpoint.

Alicia Morgans: Absolutely. And one of the things I think that's been so challenging when thinking about prostate cancer specifically is that family history in patients with metastatic disease at least doesn't always tie with the patients who have these genetic syndromes. And so when we're thinking about patients with metastatic prostate cancer, there's actually new guidance that any patient with metastatic prostate cancer could consider genetic counseling to go through family history and then actually to go through screening because the risk of these genetic syndromes that could affect the patient's future treatment or the patient's family's screening processes, not just for prostate cancer, could be different. Can you tell us a little bit about the family syndromes for men with prostate cancer that we should think about as being important?

Brittany Szymaniak: Yeah, so as I mentioned earlier, hereditary breast and ovarian cancer syndrome or as we call it, HBOC, is one of the primary syndromes that we see associated with prostate cancer. And so the thing that we've come to appreciate, even in just in the past couple of years, is that men who have these syndromes could be carrying these mutations or changes in these BRCA1 and 2 genes and not necessarily have a suspicious family history until they're diagnosed with something like metastatic prostate cancer.

So typically when we're seeing these families, there's earlier onset breast cancer. So under 50, we tend to see ovarian cancer or pancreatic and melanoma in addition to prostate cancer. So those are some of the clues that we look for in their family history.

Alicia Morgans: Absolutely. If a patient is screened, say for example a patient who has metastatic prostate cancer, what would happen if that patient actually seemed to have a mutation in a gene like BRCA2? What would you recommend for say children that he may have?

Brittany Szymaniak: Yeah, so once we've identified a mutation in the family for something like BRCA1 or 2, we recommend that other family members get tested. And now we know exactly what we're looking for in the family history, so we can do more targeted testing. And the risk that we see for women with HBOC is going to be significantly higher than what we would see with men. So there's going to be additional screenings for things like breast and ovarian cancer for women that we're not going to recommend for male patients. But these male patients also have risks for things like pancreatic cancer and melanoma, so we're going to recommend additional screenings for things like that as well.

Alicia Morgans: Absolutely. So just because a man only has daughters does not mean that he should think, if he has a BRCA2 mutation for example and history of prostate cancer, that it's not valuable for him to then have his daughters be screened because they have a higher risk of breast or ovarian cancer and may get into screening programs to identify those cancers early for early diagnosis and treatment.

Brittany Szymaniak: Exactly. And that's one of the things and misconceptions that we talk about in genetic counseling appointments is that both men and women can have these mutations, and both of them are at risk for passing them down to their children. So it's not just male children but also female children that we're going to be concerned about.

Alicia Morgans: Yeah, definitely. So for the localized prostate cancer patients, family history becomes very important. So men who have a high risk localized prostate cancer, not metastatic, should also be screened, but there's only certain patients with high risk localized disease who really should undergo genetic screening. And who are those people?

Brittany Szymaniak: So typically we say, as the guidelines read now, typically Gleason 7 or higher so that we know that that's a more aggressive cancer than we would see in general population necessarily coupled with different family histories of cancer as we talked about earlier, so things like ovarian cancer, breast cancer, or colon cancer, other family members who have had prostate cancer as well. So prostate cancer is very common, and when we look at all of the cancers as a whole, only five to 10% of them are going to be hereditary.

So sometimes it's worthwhile just for these patients to have a conversation about the family history, and that's part of what we do as genetic counselors is that risk assessment. Does this look like something that's familial prostate cancer versus something that could be hereditary? Or maybe it's sporadic.

Alicia Morgans: Absolutely. So we've been grateful to have you incorporated into our clinics so that when we see a metastatic prostate cancer patient, we could talk with him about his risk and his interest in seeing and speaking with you. And certainly, the urologist, when they have their high risk localized patients, will do the same. There are also syndromes with kidney cancers and certain patients that I would imagine with bladder cancers who have certain family histories.

But there are a lot of clinics that do not have access to a genetic counselor. So if you were a patient living in a part of the country without access to a genetic counselor, are there steps that they can take to do some of this testing either through their physician or independently and then report back to their physician to try to round out their care?

Brittany Szymaniak: Yeah, I think more and more, we're moving towards this post-test counseling situation where oncologists are kind of on the front lines with seeing these patients and having to deal with what treatment decisions are we going to be making, what additional screening do we need to be doing. So I think just because an oncologist or provider wants to order testing, it doesn't mean that as a genetic counselor, we can't see them after the fact and talk to those patients about that.

And NSGC, which is our National Society for Genetic Counselors, is a great resource because you can actually find genetic counselors who will see patients either via telephone, or we do a lot of telemedicine. That's kind of one of the new pushes since there's a lot of demand but not necessarily as many genetic counselors available. So there are a lot of programs out there that doctors could refer their patients to for genetic counseling and testing and kind of as a whole package. So even if a patient can't see a genetic counselor in person, there are resources out there for them to still get counseling and testing.

Alicia Morgans: Absolutely and very critically important. And we'll have a link online right with this video so that people can access that easily. And then one final thing that I want to make sure everyone understands because this can be, I think, really confusing, genetic counseling is really around testing the DNA that a person inherits and the DNA that a person can pass on to his or her children. But there's also genomic testing, which is really testing the DNA or the genetic code in the cancer. And so genetic counselors come into play really in the heritable genetic risk, not the tumor genetics, which are really things that the oncologist works on and thinks about targeted therapies and those kinds of things. How would you explain that to a patient, the genetic counseling versus the genomics of the tumor?

Brittany Szymaniak: Yes. You actually did a great introduction for that. So more and more, we're actually moving towards a little more merging of this tumor testing and this, what we call germline testing, so this DNA that you can pass onto your children. Because as more tumor testing gets done, there's a greater possibility of picking up some of these germline changes. And so even though it's not exclusively germline testing, we can still talk to patients about that. But we very clearly explain the difference in terms of what we're going to be able to test for and the reasons why this testing is different.

So the tumor testing that you would order is, my understanding, more treatment purpose related and understanding the biology of the tumor itself versus from what I'm testing for from the germline is more, are there other cancers that we are concerned about, is there actually a hereditary cause for the cancer that we're seeing in this patient, and are other family members potentially at risk?

Alicia Morgans: Absolutely. Well, thank you so much for sharing your expertise, and I'm certain that patients will get a lot out of this. And we will definitely put those links there to be available so that people can get more information. But I really appreciate your time and your expert knowledge. Thank you so much.

Brittany Szymaniak: Thank you so much for having me, Alicia.