Sigrid V. Carlsson, MD, PhD, MPH, presented “Should Screening be Altered Based on Germline and Family History?” during the 27th Annual Southwest Prostate Cancer Symposium conference on October 17, 2024, in Scottsdale, Arizona.
How to cite: Carlsson, Sigrid V. “Should Screening be Altered Based on Germline and Family History?” October 17, 2024. Accessed Apr 2025. https://grandroundsinurology.com/should-screening-be-altered-based-on-germline-and-family-history/
Should Screening be Altered Based on Germline and Family History? – Summary
Sigrid V. Carlsson, MD, PhD, MPH, explores the role of genetics in risk-stratified prostate cancer screening and whether genetic insights enhance current protocols. In this 10-minute presentation, Dr. Carlsson shares ongoing trials showing PSA remains the strongest predictor of lethal disease.
Polygenic risk scores (PRS) quantify hereditary predisposition but lack the predictive strength of PSA for lethal disease, limiting their role in broad screening programs. Dr. Carlsson shares studies that reveal that adding PRS to PSA only marginally improves risk prediction, raising questions about their practical utility.
AI and advanced modeling could eventually refine screening approaches by combining genetic, clinical, and imaging data. Genetic testing is valuable for individuals with strong hereditary predispositions or known germline mutations, but not necessary for all men with a family history.
About the 27th Annual Southwest Prostate Cancer Symposium:
Presented by Program Chairs Nelson N. Stone, MD, Richard G. Stock, MD, and William K. Oh, MD, this conference educated attendees about advances in the management of localized and advanced prostate cancer, with a focus on imaging, technology, and training in the related devices. It included a scientific session, as well as live demonstrations of surgical techniques. You can learn more about the conference here.
ABOUT THE AUTHOR
Sigrid V. Carlsson, MD, PhD, MPH, is Director of Clinical Research at Memorial Sloan Kettering Cancer Center’s (MSKCC) Josie Robertson Surgery Center and Assistant Attending Epidemiologist, with dual appointments in MSKCC’s Departments of Surgery (Urology Service) and Epidemiology and Biostatistics. Her line of research focuses on screening and early detection of prostate cancer, including multiplex testing and risk-stratified strategies that incorporate clinical information, biomarkers and magnetic resonance imaging, as recently funded by an NIH/NCI U01 award (PI: Carlsson).
Dr. Carlsson also serves as Associate Professor of Experimental Urology affiliated with the Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg University, in Sweden, where she is an investigator of two large randomized controlled trials of prostate cancer screening (GOTEBORG-1&2), as recently published in the New England Journal of Medicine (Hugosson J, et al. N Engl J Med 2022). In addition, Dr. Carlsson is Adjunct Senior Lecturer in the Department of Translational Medicine in the Division of Urological Cancers in the Medical Faculty at Lund University, Lund, Sweden.
Dr. Carlsson recently completed a K22 career development award from the NIH/NCI to improve shared decision-making for breast and prostate cancer screening. She serves on the National Comprehensive Cancer Network (NCCN) and is a panel member for the American Urological Association (AUA) guidelines for early detection of prostate cancer. Before pursuing postdoctoral studies in urologic oncology at MSKCC, Dr. Carlsson was a physician in Sweden. She earned her MD and PhD from Gothenburg University in Sweden and earned an MPH from Harvard TH Chan School of Public Health in Boston, Massachusetts.
