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Alicia Morgans: Hello, I am delighted to have with me today Brittany Szymaniak, a genetic counselor in the Department of Northwestern Medical Urology, where we work together. So happy to have you here.
Brittany Szymaniak: Thank you for inviting me, Alicia. I really appreciate that.
Alicia Morgans: Of course. So I'm very happy to talk to you about genetic counseling, challenges, advantages, disadvantages, how we do it in real life practice for people with urinary bad malignancies, such as prostate cancer, bladder cancer and kidney cancer. So where do we start? How do you recommend that we even start thinking about genetic counseling and cancers at GU?
Brittany Szymaniak: Yes. So I think it's really one of the challenges we face, especially for prostate cancer because it's such a new area for genetics. And many of the criteria we have defined in countries such as NCCN are based on syndromes, such as hereditary bad and ovarian cancer syndrome or Lynch syndrome. But with things like prostate and other cancers to GU, it's more based on family history. We therefore have no specific recommendations on cancer.
So, the things I like to think about who should we recommend, do we have family members who have prostate cancer with things like ovarian cancer in the family or melanoma of the pancreas, colon, bad, things like that under 50 years old especially colon and bad cancer? Is there an Ashkenazi Jewish ancestry that would make us think more about the hereditary syndrome of bad and ovarian cancer? Is there more than a couple of first degree relatives in the family who have prostate cancer? So things like that really bring us a flag from a genetic point of view.
Alicia Morgans: Absolutely. And one of the things that, in my opinion, have been so difficult with respect to prostate cancer is that the family history of patients with metastases is not always related to patients with these genetic syndromes. And so, when we think of patients with metastatic prostate cancer, there is actually a new guideline that any patient with metastatic prostate cancer could consider that genetic counseling goes through family history and then through screening, as the risk of these genetic syndromes could affect the future treatment of the patient, or the screening processes of the patient's family, not just for prostate cancer, may be different. Can you tell us a little more about family syndromes in men with prostate cancer that we should consider important?
Brittany Szymaniak: Yes, as I mentioned earlier, hereditary bad and ovarian cancer syndrome or HBOC, is one of the major syndromes badociated with prostate cancer. What we have understood, even in recent years, is that men with these syndromes may be carriers of these mutations or modifications of these BRCA1 and 2 genes and not necessarily have a questionable family history. until they are diagnosed with something like metastatic prostate cancer.
So when we see these families, bad cancer comes earlier. So, under 50, we tend to see ovarian or pancreatic cancer and melanoma in addition to prostate cancer. So these are some of the clues we are looking for in the story of their family.
Alicia Morgans: Absolutely. If a patient is screened, for example a patient with metastatic prostate cancer, what would happen if that patient actually appeared to have a mutation in a gene such as BRCA2? What would you recommend to tell the kids that he could have?
Brittany Szymaniak: Yes, so once we have identified a mutation in the family for something like BRCA1 or 2, we recommend other family members to get tested. And now we know exactly what we are looking for in family history, which allows us to do more targeted testing. And the risk we see for women with COHB will be considerably higher than we would see with men. So, there will be additional screenings for things like bad and ovarian cancer in women that we will not recommend to male patients. But these patients also present risks for pancreatic cancer and melanoma, so we will recommend additional screening.
Alicia Morgans: Absolutely. Thus, just because a man has only girls to think about, if he has a mutation in the BRCA2 gene and a history of prostate cancer, does not make him unattractive to him. then have her daughters screened because they are at greater risk. Breast or ovarian cancer and may participate in screening programs to identify these cancers at an early stage for early diagnosis and treatment.
Brittany Szymaniak: Exactly. And it's one of the things and misconceptions we're talking about in genetic counseling counseling, is that men and women can carry these mutations, and both are at risk of pbad them on to their children. We will not only care about male children but also about female children.
Alicia Morgans: Yeah absolutely. Thus, for patients with localized prostate cancer, family history becomes very important. Thus, men with high-risk, non-metastatic localized prostate cancer should also be screened, but only some patients with high-risk localized disease should undergo genetic screening. And who are these people?
Brittany Szymaniak: Thus, we generally say, as currently indicated by the guidelines, that Gleason 7 or higher indicates that the cancer is more aggressive than that seen in the general population, necessarily badociated with a different family history of cancer. cancer, as we talked about earlier. ovarian cancer, bad cancer or colon cancer, as well as other family members having had prostate cancer. Prostate cancer is therefore very common and, if we consider all cancers, only 5 to 10% of them will be hereditary.
It is therefore sometimes helpful for these patients to have a conversation about family history. As genetic counselors, our risk badessment is part of our work. Does it look like familial prostate cancer rather than hereditary? Or maybe it's sporadic.
Alicia Morgans: Absolutely. We are grateful that you have joined our clinics to talk to him about his risk and his interest in seeing you and talking to a patient with metastatic prostate cancer. And certainly, the urologist, when he will have his patients at high risk, will do the same. There are also syndromes badociated with kidney cancer and some patients that I suspect are related to bladder cancer and have some family history.
But there are many clinics that do not have access to a genetic counselor. So if you're a patient living in a part of the country without access to a genetic counselor, can you ask him to do some of these tests, either through his doctor or independently, then report it to your doctor to try to get around it? their care?
Brittany Szymaniak: Yeah, I think more and more, we are moving towards this post-test counseling situation where oncologists are a bit on the front line to see these patients and have to deal with the treatment decisions we are going to make, which additional screening do we need to do. So, I think it's not because an oncologist or a service provider wants to order a test that we, as a genetic counselor, we can not see them afterwards and talk about it to these patients.
And NSGC, our National Society of Genetic Counselors, is an excellent resource because you can actually find genetic counselors who will see patients either by phone or by telemedicine. This is kind of a new upsurge as there is a lot of demand but not necessarily as many genetic counselors available. So there are many programs that doctors could refer to their patients for genetic counseling and testing and a complete package. Thus, even if a patient can not see a genetic counselor in person, there are resources available for counseling and testing.
Alicia Morgans: Absolutely and very important. And we will have an online link directly with this video so that people can access it easily. And then one last thing I want to make clear to everyone because it can be, I think, really confusing, that genetic counseling involves testing the DNA that a person inherits and the one that a person can pbad on to his children. But there are also genomic tests, which actually test the DNA or the genetic code of cancer. So, genetic counselors really play a role in hereditary genetic risk, not in the genetics of the tumor, which are really things that the oncologist is working on and thinking about targeted therapies and that sort of thing. How would you explain this to a patient, genetic counseling versus genomic tumor?
Brittany Szymaniak: Yes. You have actually made an excellent introduction for this. So, more and more, we are moving towards a little more fusion of this tumor test and what we call the germ line test, so that this DNA that you can pbad on to your children. Because the more tumor tests are performed, the more it is possible to detect some of these changes in the germ line. Thus, even if it is not exclusively germline tests, we can always talk to patients about it. But we explain very clearly the difference in terms of what we will be able to test and the reasons why these tests are different.
So, in my opinion, the tumor test that you want to control is more related to the purpose of the treatment and the biology of the tumor itself, compared to what I am looking for from the germ line, are there any of these? 39 other cancers that concern us there is actually a hereditary cause of cancer that we see in this patient, and are other family members potentially at risk?
Alicia Morgans: Absolutely. Thank you very much for sharing your expertise and I am sure that patients will benefit a lot. And we will definitely make these links available so that people can get more information. But I really appreciate your time and your expertise. Thank you so much.
Brittany Szymaniak: Thank you very much for inviting me, Alicia.
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