INNOVATIONS IN POLYGENIC RISK SCORES: FROM RESEARCH BREAKTHROUGHS TO CLINICAL PRACTICE (h 15.30-18.00)

15.30
Introduction
• Course and speaker introduction.
• Course objectives.

15.45
Talk 1: From Risk Prediction to Clinical Application: the Future of Polygenic Scores
Speaker: Samuel A Lambert (University of Cambridge).
Content:
• Introduction to PRS: what they are and how they work.
• Clinical Applications of Polygenic Scores.
• Challenges in Clinical Implementation.
• The Polygenic Score Catalog.
Q&A Session: 5 minutes

16.30
Talk 2: PRS Applications in Cardiology
Speaker: Aniruddh P. Patel (Massachusetts General Hospital, Boston).
Content:
• PRS and cardiovascular risk: calculation and interpretation.
• Clinical applications: identifying high-risk patients for myocardial infarction, stroke, and other cardiovascular diseases.
• Integration with clinical and environmental risk factors.
• Case studies: successful implementation of PRS in cardiology.
Q&A Session: 5 minutes

17.15
Talk 3: Stratification of Breast Cancer Patients by PRS
Speaker: Elisabeth Widen (University of Helsinki)
Content:
• The role of PRS in risk stratification for breast cancer.
• PRS for prevention and early diagnosis.
• Evaluating treatment effectiveness based on genetic risk.
• Case studies: successful implementation of PRS in oncology.
Q&A Session: 5 minutes

18.00 Closing and Final Discussion

• Summary of key points from the talks.
• Future perspectives for PRS in research and clinical practice.
• Open discussion and additional questions.
________________________________________
Course Rationale
Polygenic Risk Scores (PRS) represent one of the most promising innovations in predictive genetics, enabling the estimation of individual risk for a wide range of complex diseases based on thousands of genetic variants. In recent years, technological and methodological advancements have enhanced the accuracy and applicability of PRS, unlocking new opportunities for research and personalized medicine.
This 3-hour course, titled “Innovations in Polygenic Risk Scores: From Research Breakthroughs to Clinical Practice,” aims to provide a comprehensive and up-to-date overview of recent developments in PRS, with a particular focus on clinical applications in two key areas: cardiology and oncology. Through three focused talks, participants will explore:
1. Recent advancements in PRS, including cutting-edge methods for calculation and challenges related to application in diverse populations.
2. Practical applications in cardiology, with examples of PRS use in improving prevention and management of cardiovascular diseases.
3. Patient stratification for breast cancer based on PRS, with implications for prevention, early diagnosis, and personalized treatment.
The course is designed for healthcare professionals, researchers, and students interested in understanding how genetic innovations can be translated into practical tools for clinical practice, contributing to personalized care and improved health outcomes.