Episode notes
In "real life," Polygenic Risk Scores (PRS) occupy a transitional space: they are scientifically legitimate and potent research tools, but their clinical reality is currently limited by insurance barriers, ancestry biases, and cautious medical guidelines.
1. Scientific Legitimacy: Valid for Risk Stratification Biologically, PRS is "legit." Unlike monogenic testing (which looks for single, high-impact mutations like BRCA1), PRS aggregates thousands of common, low-impact genetic variants to calculate an individual's overall susceptibility to complex diseases.
• Cardiovascular Disease: PRS is highly effective at identifying individuals with elevated risk for coronary artery disease (CAD) who are invisible to standard screening tools. For example, Mass General Br ...