Veda N. Giri, MD, Director, Cancer Risk Assessment and Clinical Cancer Genetics, Associate Professor, Medical Oncology and Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, talks about the data being collected on genetic testing and how it can help individualize cancer patients treatment options.
To benefit society, what you are doing is from collective experience?
Dr. Giri: Yes, the field of genetic testing for prostate cancer is really building upon years of experience of genetic testing for women concerned about breast and ovarian cancer risk, as well as genetic testing for other cancers such as colon cancer. Now in more recent years, genetic testing for prostate cancer has become available and is important to focus on the needs of men and their families. It is important to understand the genes that are responsible for inherited prostate cancer, and how genetic mutations can impact prostate cancer risk and treatment for men, their sons and brothers regarding genetic testing to inform screening and treatment. A vitally important point to understand is that genetic risk for cancer can also impact women in prostate cancer families, because the same gene may lead to breast cancer risk women and prostate cancer risk in men. For example, BRCA1 and BRCA2 are classic breast and ovarian cancer genes. If a man inherits a mutation in these genes there is increased risk of prostate cancer. Furthermore, other cancer risks can also be elevated such as risk for pancreatic cancer and melanoma. So it is really important to think broadly when thinking about genetic testing, because it really does have that global impact on the family. In addition, genetic testing is increasingly informing treatment management and screening, which can have a population-level impact.
Let’s say you come back with a genetic mutation. In terms of treatment, these tests would actually dictate the form of treatment that you would recommend for a patient as well as determine the risk for relatives?
Dr. Giri: In terms of prostate cancer, genetic information is giving us insight about how to potentially treat advanced or metastatic prostate cancer, so it is really in that setting that we are getting some of these insights about treatment. We expect it is actually going to inform even earlier stage disease for prostate cancer as well with more data. Furthermore, genetic information is really another tool to help an individual estimate their personal risk of prostate cancer or other cancers. For example, if a man has inherited his family’s BRCA2 mutation, he would be recommended to start prostate cancer screening at 45, which is younger than what we would recommend for the population.
It is surprising to me because you have heard about BRCA genes so much for breast cancer, but not for prostate cancer. How has this impacted how you’re practicing medicine here?
Dr. Giri: This is something we had to put a lot of thought into, and starting in 2014 we decided to take a team approach with genetic evaluation for prostate cancer. At Sidney Kimmel Cancer Center at Jefferson, we developed the Men’s Genetic Risk Clinic which functions side by side and in collaboration with the GU Multidisciplinary Clinic. The multidisciplinary clinic evaluates men who have prostate cancer that is newly diagnosed or along in the continuum of care. They come in and see a team of experts; they see urology, medical oncology, radiation oncology, all in the same day and they get a team approach to how to manage their prostate cancer. We thought this was a unique opportunity to think about how genetics can be weaved into that process and give those men an opportunity to engage in genetic counseling and genetic testing for inherited prostate cancer. We discuss the role of several genes in inherited risk for prostate cancer. While we hear about BRCA1 and BRCA2 for breast cancer and prostate cancer, genetic testing can assess multiple genes responsible for prostate cancer.
In Doug’s case where he did have cancer in the family, how did his particular testing impact his treatment plan?
Dr. Giri: At this point we saw him, he had been undergoing active surveillance for his prostate cancer. If he had a genetic mutation that predicted that his prostate cancer could be more aggressive, then it might impact the decision-making going forward about whether to continue active surveillance or consider treatment with surgery or radiation. That was really the intent of proceeding with genetic testing for his treatment and management sake. He did not actually have a BRCA2 mutation identified, which is one of the key genes associated with aggressive prostate cancer; he also did not have any mutations identified in the other 51 genes that we tested for as part of a research study he is enrolled in. He did have two genetic variants of uncertain significance. There are no management changes based upon identifying variants of uncertain significance. These variants are tracked over time for more scientific data to determine if they are mutations or benign changes. If the variant interpretation is changed to a mutation, then the patient would need to understand the cancer risks by discussion with a genetics provider. This is a really important reason to have genetic counseling – to understand the types of results one might get from genetic testing.
This is actually the point behind research, because the more people that participate in the genetic study the better the information becomes?
Dr. Giri: It does, right. it helps us to know what types of results to expect (whether positive, negative, or uncertain) and genetic lead for inherited prostate cancer. The more participants that enroll in research studies, the more robust data we have to analyze in terms of genetic findings and particularly variants of uncertain significance. It allows us assess prostate cancer risk or how these genetically-based risks can translate in families as well.
How many people have participated in the genetic study, you say it started in 2014?
Dr. Giri: Yes the Genetic Evaluation of Men study started in 2014, and currently has over 200 men enrolled
Was this patient enrolled onto this study at this particular center?
Dr. Giri: The GEM study is open at Sidney Kimmel Cancer Center, Jefferson affiliate hospital (Abington Memorial Hospital), and at Fox Chase Cancer Center. Collaborating across centers is important to bring expertise together and offer the study to a broader population. Fox Chase Cancer Center and Dr. Obeid is a really important collaborator for us for the study. Our first phase of the study, we enrolled 200 men and published the genetic findings last year. Now we are in the second phase of the study where we have expanded the number of genes that we are testing (up to 51 genes). This patient was enrolled onto the GEM Study at Sidney Kimmel Cancer Center as part of the second cohort.
Is this done using saliva tests? Or how do you get the DNA?
Dr. Giri: There are a couple of ways to do genetic testing for inherited risk. One is a blood sample, but a second approach has been saliva collection for genetic testing. This really makes it so much more feasible to do the genetic testing in terms of collection of a saliva sample, but also it enables us to use modern technology, such as Telehealth. We have been offering telehealth genetic consultation here at Sidney Kimmel Cancer Center and it is an initiative at Jefferson where we really want to bring our services out to populations and to communities. We have been employing Telehealth significantly to be able to provide genetic counseling remotely and what we can do with the saliva samples is actually mail the genetic testing kit to the individual’s home. Once they have gone through genetic counseling via Telehealth and they agree to proceed with genetic testing, we just talk them through the sample saliva collection. They can then mail it right to the genetics laboratory. The results come to us and we can deliver those results to the patient with the option of in-person or Telehealth to receive their test results.
Percentage-wise how many patients are seen by Telehealth and how many in person?
Dr. Giri: Right now, Telehealth is still a small percentage of our patient encounters. Feedback from patients is really positive. They appreciate the ability to stay in their homes and ask questions from a comfortable setting. Some individuals have trouble coming into Center City so it really helps them to access our expertise about genetic counseling and consider genetic testing. It gives us that sort of virtual face- to- face relationship that I think is really helpful from a genetic counseling aspect.
You mentioned that when a patient comes in they do have a team review of their case with oncologists, urologists, and cancer genetics. That has got to be such a valuable thing for the patient to get it all done in one day?
Dr. Giri: Yes I think it has been a truly exceptional experience. While it can be a long day, it saves a lot of the back and forth for patients to come in and get all of the expert opinions at one time. It also allows the team of doctors to talk to each other and really bounce ideas from each other in the best interest of the patient. So our integration of genetics into the multidisplinary clinic here at Sidney Kimmel Cancer Center really was the first in the country to have that formally integrated genetics into a multidisciplinary prostate cancer management setting. It has been very gratifying from a provider prospective and I hear very good feedback from patients as well.
END OF INTERVIEW
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