Alan H. Bryce MD, presented “Genetic Testing and Next Generation DNA Sequencing” during the 27th Annual Perspectives in Urology: Point Counterpoint on November 9, 2018 in Scottsdale, Arizona.
How to cite: Bryce, Alan H. “Genetic Testing and Next Generation DNA Sequencing” November 9, 2018. Accessed Jul 2020. https://grandroundsinurology.com/genetic-testing-and-next-generation-dna-sequencing/
Genetic Testing and Next Generation DNA Sequencing – Summary:
Alan H. Bryce, MD, explains the concept of synthetic lethality in the context of BRCA-deficient tumors, as well as resistance to poly (ADP-ribose) polymerase (PARP) inhibition. He also discusses the under-utilization of inherited cancer risk syndromes in prostate cancer practice, research, and guidelines, as well as new pathways for therapeutic targeting
Large-scale genome sequencing of prostate cancer has led to a rapid expansion in urology regarding the genetic drivers of disease. Evidence proves DNA damage response (DDR) genes to be frequently altered, both in germline and somatic testing. The rate of alterations increase as disease progresses from locoregional to metastatic non-castrate, and then from metastatic non-castrate to metastatic castration -resistant. New systemic therapies, such as PARP inhibitors, may better target DDR alterations in up to 25% of metastatic patients.
DDR mutations can also drive familial prostate cancer risk. However, screening continues to under-utilize DDR mutations. Current screening guidelines fail to capture a substantial portion of patients with high-risk genetics. Therefore, more widespread testing for germline mutations is necessary. A variety of other recently-identified, frequently altered genes have implications for immunotherapy, targeted therapy, and treatment sequencing. Because of this, future treatment paradigms will likely incorporate germline and somatic mutation data.
About Perspectives in Urology: Point Counterpoint
Perspectives in Urology: Point Counterpoint (PCP) is an annual CME-accredited conference devoted to discussing and debating the latest topics in men’s health, general urology, and genitourinary cancers. The conference’s format includes more than didactic lectures. It also includes debates, point-counterpoint discussion panels, and unique case-based presentations. Dr. Bryce presented this lecture during the 27th PCP in 2018. Please visit this page in order to register for future PCP meetings.