Fast Facts: The Importance of Genetic Testing in Prostate Cancer - Brittany Szymaniak

June 23, 2022

Brittany Szymaniak sheds light on the critical role of germline genetic testing in prostate cancer. Dr. Szymaniak emphasizes that genetic testing is not just for metastatic cases but also for high-risk, very high-risk, and even localized disease. Patients with Ashkenazi Jewish ancestry and those with a family history of various cancers, including male breast cancer, should also be considered for testing. The conversation explores the therapeutic implications, highlighting the increasing relevance of PARP inhibitors like olaparib and rucaparib, especially in combination therapies. Beyond treatment, Dr. Szymaniak underscores the broader familial impact of genetic testing. Positive test results can trigger cascade testing for other family members, potentially leading to early diagnosis and treatment of other conditions, such as breast cancer. The discussion concludes by emphasizing that genetic testing benefits not just the individual patient but the entire family.


Brittany Szymaniak, PhD, CGC, Urology Department, Feinberg School of Medicine, Northwestern Medicine, Chicago, IL

Alicia Morgans, MD, MPH, Genitourinary Medical Oncologist, Medical Director of Survivorship Program at Dana-Farber Cancer Institute, Boston, Massachusetts

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Alicia Morgans: Hi, I'm so excited to be here with Dr. Brittany Szymaniak who's going to give us some fast facts and some clinical pearls on genetic testing in prostate cancer. So thank you for being here, Dr. Szymaniak.

Brittany Szymaniak: Yeah. Thank you for having me.

Alicia Morgans: So let's start with just reviewing which patient populations from the prostate cancer group do we need to think about for germline genetic testing?

Brittany Szymaniak: So, the main groups that we're going to be thinking about here are individuals that have metastatic prostate cancer, high-risk, or very high-risk disease, even localized disease. All of these patients are going to have consideration for genetic testing, as well as individuals who are diagnosed with prostate cancer that have Ashkenazi Jewish ancestry. So those are going to be broad topics or broad concepts for testing, but then we get into family history. So individuals that have histories of breast, ovarian, pancreatic, even things like male breast cancer, as well as individuals that have multiple generations of prostate cancer in the family.

Alicia Morgans: So it's really important to identify those patients and get them fast-tracked into germline genetic testing. And what are the reasons for this? Are there therapies that we're thinking about using for these patients if they have more advanced disease, particularly metastatic CRPC?

Brittany Szymaniak: So certainly with some of these genes we're considering the use of things like PARP inhibitors, that's a really, I would say, a hot topic in the prostate cancer space. I know that there are trials looking at combination therapies going on right now. So, I think this is going to become increasingly relevant, especially as we start thinking about those combinations and potentially moving some of those treatments into first or second-line considerations versus where we're at now with them.

Alicia Morgans: Great. So, olaparib and rucaparib are currently approved already in metastatic CRPC, in different spaces, but already approved and we are definitely moving these things forward. We're testing them in combination with radiation, in early-stage disease, neoadjuvant treatment, even. So it's really, really exciting. And the final thing I want to make sure that we mention is that the importance of germline genetic testing doesn't stop for the patient himself. It really extends beyond the patient. Can you explain that a little bit?

Brittany Szymaniak: Yeah. So this is one of the topics that's really important, especially in prostate cancer, in that while we may have limited information for patients for some of these genes, we do have information about potentially other family members, especially women in the family. So if there is a positive result that comes back for the patient, we think about doing cascade testing or initiation of testing for other family members to figure out, do they actually have this mutation or do they not? And do we need to do increased screening for them? So while we have a patient who has prostate cancer, we may be doing increased breast screening, dermatology screening, maybe thinking about things like pancreatic screening, maybe we need to start thinking about breast cancer risk for their daughters or their sisters. What other things do we need to be doing for the family member, which is really critical. Genetics is not just about our patient, it's about the family.

Alicia Morgans: I think that's one of the things I most wanted to emphasize. I can't tell you how grateful I've seen some patients whose daughters have actually been diagnosed with very early-stage breast cancer, have undergone treatment and been cured. These BRCA1 and BRCA2 families can be really saved, as a family, not just as an individual patient.

Alicia Morgans: So thank you so much for your time and your expertise, such an important message for our patients and their clinicians.

Brittany Szymaniak: Yeah, thanks Alicia.