AUA 2019: Germline DNA Testing in Urology: Best Practices and Ethical Considerations
The NCCN guidelines have developed recommendations regarding genetic/familial high-risk assessment of breast and ovarian cancer. According to these guidelines, BRCA testing should be performed when there is personal history of Gleason 7 prostate cancer with one close blood relative with ovarian cancer, pancreatic cancer, metastatic prostate cancer, or breast cancer, or there are 2 or more relatives with breast or prostate cancer (Gleason >=7), or there are known Ashkenazi Jewish ancestry, and in any case of metastatic prostate cancer. However, the current guidelines do not appear to capture all men with genetic mutations (4), and there is a potential need to refine the guidelines.
Nowadays, there are multi-gene testing panels available. They test for more genes, give more information, but also require genetic consultation. Before ordering genetic testing, it is important to standardize the information received on the patient’s family history of cancer. Before performing a genetic consultation to patients, several steps should be performed. It is important to correctly identify patients for potential testing, explain the purpose of testing and genes tested, review their accuracy, discuss various testing options, discuss genetic discrimination risks, and order the testing once the patients understand all this. As soon as the results get back, they should be conveyed to the patient, and additional recommendation should be made to the patient, including screening for other associated malignancies and discussing genetic testing for family members.
The Genetic Information Nondiscrimination Act (GINA) prohibits health insurance and employment discrimination based on genetic testing. However, GINA does not prevent discrimination in life, disability, or long-term care insurance, and this should be discussed with the patient as well.
In conclusion, Dr. Morgan summarized his talk stating that we are currently entering a new and exciting era. Inherited susceptibility to prostate cancer is complex and still poorly understood. As urologists, we should become experts and educate ourselves on the topic of genetic testing. It is therefore important to understand all the advantages and disadvantages of genetic testing, which is a unique topic, unlike any other test we may order/perform.
Presented by: Todd Morgan, MD, Associate Professor, Urology, Chief, Division of Urologic Oncology, University of Michigan
Written by: Hanan Goldberg, MD, Urologic Oncology Fellow (SUO), University of Toronto, Princess Margaret Cancer Centre, @GoldbergHanan
References:
1. Pritchard CC et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer," New England Journal of Medicine 375, (2016): 443-445 DOI: 10.1056/NEJMoa1603144
2. Castro E. et al. "Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer," Eur Urol, 68,2 (Aug 2015):186-93. doi: 10.1016/j.eururo.2014.10.022. Epub 2014 Nov 6.
3. Carter HB et al. "Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer," Eur Urol, 75,5 (May 2019):743-749. doi: 10.1016/j.eururo.2018.09.021. Epub 2018 Oct 8.
4. Nicholas/Sartor et al. JAMA ONCOL 2019