EP104: Assessing the clinical utility of Polygenic Risk Scores in cancer screening with Professor Clare Turnbull

The Genetics Podcast

Join Patrick Short and Professor Clare Turnbull, Professor in Translational Cancer Genetics at the Institute of Cancer Research, as they discuss polygenic risk scores and their application in healthcare. Delve into the complexities of predicting disease, the challenges of screening programs, and the potential impact of integrating genomics into healthcare systems. Discover the limitations and potential of polygenic risk scores and gain valuable insights into the future of personalized medicine. 0:00 Intro 1:00 Clare’s path to becoming a clinical geneticist and her research in uncovering genetic links to cancer 3:20 How do Polygenic Risk Scores help to predict disease, particularly breast cancer? 10:00 The influence of environmental and genetic effects on breast cancer presentation 11:30 Next clinical steps after determining genetic risk for breast cancer 17:30 How effective and accurate are polygenic risk scores in predicting various types of cancer, given the potential for false positives or negatives? 25:00 The potential for integrating genetic screenings and polygenic risk scores into early cancer diagnosis 27:20 How do monogenic risk scores like BRCA 1 and 2 fit into the paradigm of cancer research? 31:30 Using both monogenic and polygenic to explain population prevalence of disease 35:00 Integration of genomics and genetic screenings into the UK healthcare system 40:30 What comes after the genetic test? What is the use in identifying risk for a disease if nothing is subsequently done to prevent it? 44:50 Clare’s upcoming work in remodeling NHS systems for evidence protocols and clinical use of genetic tests 46:50 Closing remarks