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Educated Patient® Prostate Cancer Summit Genetic Testing Presentation: May 21, 2022


Watch Dr. Veda N. Giri, from Sidney Kimmel Cancer Center at Thomas Jefferson University, discuss genetic testing and who should get it, during the CURE Educated Patient Prostate Cancer Summit.

Some patients with prostate cancer may want to consider genetic testing as it could provide a guideline for treatment and information for secondary cancer risk, while also allowing families to better understand their own risk, according to an expert.

“(Genetic testing) can really open avenues for treatments of men with metastatic prostate cancer. Treatments that may not have been available a few years ago but are available now based on genetic testing results,” said Dr. Veda N. Giri, a professor of medical oncology, cancer biology and urology at the Sidney Kimmel Cancer Center at Thomas Jefferson University in Philadelphia, in an interview with CURE®.

It may also help identify the risk for a second cancer in some patients, which can then guide further screening and treatment decisions, she added.

Giri, who is also the director of cancer risk assessment and clinical care genetics, further discussed the importance of genetic testing for patients with prostate cancer and who should consider it at the CURE® Educated Patient® Prostate Cancer Summit.

Benefits of Genetic Testing

Giri explained that genetic testing, which is done typically through a blood sample or cheek swab, is an approach that tries to identify changes in genes, otherwise known as genetic mutations, that can lead to diseases such as cancer. The sample is sent to the genetic testing laboratory and what they are looking for in changes in the DNA, the coding of genes and any duplications.

It can be beneficial for patients who have already received a diagnosis of prostate cancer, specifically metastatic prostate cancer, she explained, as it can help guide treatment decisions.

“This testing strategy of genetic testing is really in the forefront now as far as being able to help determine targeted therapy options for patients that have metastatic prostate cancer, particularly mutations in genes called DNA repair genes,” Giri added.

If a patient has this mutation in a gene, which includes the BRCA1 or BRCA2 gene, they could be eligible for treatment with PARP inhibitors after progression on standard therapy if they have metastatic prostate cancer — and this would be found out through genetic testing.

Genetic testing is also informative in a hereditary sense, so it can provide information on the risk of prostate cancer for both patients and their families, she explained. The gene mutation information from genetic testing can provide patients and families with a better understanding of what mutations they have and what other cancer types they are at risk for, which can lead to a possible benefit from earlier screening, Giri explained.

“It can really be important to identify those hereditary cancer risks because we can do better screening for those cancers as well,” she said.

Who should undergo genetic testing?

The current guidelines for genetic testing focus primarily on patients who have a higher likelihood of having genetic mutations, which can impact the treatment of their cancer, the management of their cancer or, earlier on, the screening.

Giri said that men with metastatic prostate cancer are recommended to consider genetic testing for a few different reasons.

“(It) could open doors for new treatments for them, potentially clinical trials and then certainly hereditary cancer syndromes in their families,” she explained.

She added that patients with high-risk prostate cancer, even if it is localized, should consider genetic testing, because there is a higher chance of finding a genetic mutation, which can be beneficial for hereditary implications. Knowing the family history is so important because those with a history of cancer in their family could qualify for genetic testing.

“It’s informing many strategies, but I really do think it’s also a doorway into a family to identity hereditary cancer syndrome so that all blood relatives … can think about their own genetic testing if a mutation is found and then go ahead and start appropriate strategies for cancer screening to really reduce the burden of cancer for patients and their families,” she said.

Men with prostate cancer who are of Ashkenazi Jewish heritage should also consider genetic testing because they have a higher rate of certain genetic mutations, such as the BRCA mutation, Giri said.

“There’s a lot of criteria that help to identify which patients should really consider genetic counseling and genetic testing,” she concluded. “Even if a patient is highly motivated and doesn’t strictly meet criteria they can still meet with a genetic counselor and if they are interested in proceeding with genetic testing after making an informed decision they could pay out of pocket. And typically that out of pocket cost is about $250 or less. So, that can be affordable for some patients and might lead more motivated patients to think about testing even if they don’t meet national guidelines.”

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