Christopher J. Kane, MD, FACS, presented “Germline Screening and Polygenic Risk Scores” during the 30th Annual Perspectives in Urology: Point-Counterpoint, on March 10, 2023, at Humphreys Half Moon Inn, San Diego, California.

How to cite: Kane, Christopher J. “Germline Screening and Polygenic Risk Scores.” March 10, 2023. Accessed Jun 2024. https://grandroundsinurology.com/germline-screening-and-polygenic-risk-scores/

Germline Screening and Polygenic Risk Scores – Summary

Christopher J. Kane, MD, FACS, provides a comprehensive overview of genetic testing in prostate cancer. He emphasizes the importance of distinguishing somatic mutations from germline mutations, and explains the concept of high-penetrance genomic syndromes.

Dr. Kane highlights that genetic testing can be done on various tissues, with cheek swabs and blood tests being the most common methods. He identifies common genetic changes, such as BRCA2, and mentions testing companies like Invitae, Color, and Foundation.

The discussion also covers the significance of single nucleotide polymorphisms (SNP) in non-coding regions of DNA and their role in inherited mutations. Dr. Kane discusses the criteria for testing, including personal or family history suggestive of an inherited syndrome, test validity, and its impact on patient care.

He underscores the relevance of genomic testing for advanced prostate cancer patients, as actionable therapeutics are available for those with DNA repair gene abnormalities. Dr. Kane refers to the Pritchard article, which revealed a higher frequency of genomic syndromes in men with metastatic prostate cancer than previously estimated. Dr. Kane concludes by acknowledging the limitations of family history and the superiority of SNP testing as a predictor of prostate cancer risk.

 

About the 30th Annual Perspectives in Urology: Point Counterpoint conference: Presented by Program Chair and Grand Rounds in Urology Editor-in-Chief E. David Crawford, MD, this conference brought together leading experts in urology, medical oncology, and radiation oncology to discuss and debate the latest topics in genitourinary cancers, primarily prostate cancer and bladder cancer. This interactive conference offered topical lectures, pro/con debates, interesting-case presentations, interactive panel discussions, and interactive audience and faculty networking.