New framework takes genetic testing guidelines for prostate cancer ‘a step further’
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All men with metastatic prostate cancer should undergo genetic testing to better inform decisions on precision medicine or clinical trial eligibility, according to recommendations developed at a multidisciplinary consensus conference.
Men with a family history of prostate, colon, breast, ovarian or pancreatic cancer also should be tested for hereditary cancer genes to guide surveillance and screening strategies for prostate cancer, according to the recommendations, published in Journal of Clinical Oncology.
“Previous guidelines did not have their own panel for prostate cancer, so finding recommendations could sometimes be confusing,” Vera N. Giri, MD, associate professor at Thomas Jefferson University, director of the Jefferson Clinical Cancer Genetics Service at Jefferson Health and co-chair of the conference, told Healio. “What’s specifically new with metastatic testing is the identification of the priority genes. So, we better organized the guidelines and took them a step further.”
Germline testing is a key component of prostate cancer treatment and management, as well as hereditary cancer assessment. However, critical needs exist regarding genetic testing, including optimized multigene strategies incorporating evolving genetic data, consistency in germline testing indications and management, and alternate genetic evaluation models to meet the rising demand for genetic services.
Giri and colleagues sought to address these challenges as part of the 2019 Philadelphia Prostate Cancer Consensus Conference, which included international experts, stakeholders and national organization leaders tasked with developing a genetic implementation framework.
The framework included criteria with strong (75%) or moderate (50%-74%) agreement.
Recommendations included large germline panels and somatic testing for metastatic prostate cancer.
Reflex testing, which involves initial testing of priority genes followed by expanded testing, may be considered for multiple scenarios, according to the guidance. Conference participants recommended germline testing for men with metastatic disease or family history suggestive of hereditary prostate cancer and, by moderate consensus, for those with additional family history and pathologic criteria.
Priority genes to test for metastatic disease treatment include BRCA1, BRCA2 and mismatch repair genes, according to the guidance. For clinical trial eligibility, broader testing for genes such as ATM should be performed.
Participants recommended BRCA2 testing to inform active surveillance discussions. Men harboring this mutation should start screening at age 40 years or 10 years before the youngest prostate cancer diagnosis in their family. This also should also be considered for HOXB13, BRCA1, ATM and mismatch repair carriers, the guidance states.
To address the genetic counseling shortage, participants endorsed collaborative point-of-care evaluation models between health care and genetic providers. They also recommended optimal pretest informed consent, post-test discussions, cascade testing and technology-based approaches, which Giri said include expanded use of telehealth services.
“Our guidelines have a huge clinical role to play, specifically because of recent approvals of PARP inhibitors to treat prostate cancer,” Giri told Healio. “The other big piece to these recommendations was how to make them work in practice. We hope medical professionals will implement these in their practices and that they will help them have discussions with their patients.”
For more information:
Vera N. Giri, MD, can be reached at Jefferson Health, 111 S. 11th St., The Bodine Center, Philadelphia, PA 19107.
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