Polygenic Risk Scores 101: A Key to Predicting and Preventing Complex Diseases

In this episode of Precision Medicine Made Simple, we welcome back Dr. Yelena Bykhovskaya, the Chief Scientific Officer at Biography Health, for a deep dive into polygenic risk scores (PRS) and their emerging role in precision medicine. Dr. Bykhovskaya breaks down the complexities of genetics and its application in clinical practice, focusing on how polygenic risk scores can be used to assess an individual's risk for common complex diseases.

We discuss the evolution of genetics in healthcare, how PRS differs from monogenic testing, and why the accuracy and predictive power of these scores are becoming increasingly important. We also address some of the challenges in applying PRS across different populations and the future potential of genetic risk scores in personalized healthcare.

Key Takeaways:

• Polygenic risk scores are a powerful tool for assessing genetic predisposition to complex diseases like heart disease, Alzheimer’s, and more.
• PRS are calculated using multiple genetic variants, not just one, making them useful in understanding complex traits.
• While still evolving, PRS are becoming more accurate, especially with the incorporation of data from diverse populations.
• Understanding PRS can help prevent diseases before they manifest, offering proactive healthcare solutions.
• The challenges and benefits of integrating PRS into clinical practice, and how the field is rapidly advancing.

In This Episode:

• [00:00] Introduction to polygenic risk scores and their relevance in precision medicine
• [05:00] How the Human Genome Project and next-generation sequencing revolutionized genetics
• [10:00] Explaining the difference between monogenic and polygenic diseases
• [15:00] The limitations of current PRS models and how they’re improving over time
• [20:00] Why PRS is especially useful for assessing cardiovascular risk and other common conditions
• [25:00] The impact of ancestral diversity on PRS and how researchers are making improvements
• [30:00] What it takes for PRS to move from research to clinical use
• [35:00] The potential for PRS to inform more personalized treatment plans
• [40:00] Dr. Bykhovskaya’s personal experience with blood pressure medication and how PRS could have helped
• [45:00] How precision medicine is changing the way we think about healthcare

Notable Quotes:

• “Polygenic risk scores are not just about predicting the future, they’re about empowering people to take control of their health today.” – Dr. Yelena Bykhovskaya
• “You can't just focus on a single gene; it's about the whole picture, understanding how multiple genetic factors contribute to disease risk.” – Dr. Yelena Bykhovskaya
• “Genetics is a moving field, and as we gather more data, the accuracy and usefulness of PRS will continue to improve.” – Dr. Yelena Bykhovskaya
• “Personalized medicine is about understanding you as an individual and tailoring healthcare to your specific needs, not just your symptoms.” – Dr. Yelena Bykhovskaya

Our Guest

Dr. Yelena Bykhovskaya is the Chief Scientific Officer at Biography Health, where she...