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Polygenic Risk Score

Meaning

A Polygenic Risk Score (PRS) is a quantitative measure derived from an individual’s genome that estimates their cumulative genetic predisposition to a specific complex trait or common disease, such as cardiovascular disease or type 2 diabetes. This score is calculated by summing the weighted effects of thousands to millions of genetic variants, known as single nucleotide polymorphisms (SNPs), across the entire genome, where the weight reflects the variant’s statistical association with the trait. The PRS provides a powerful, personalized tool for proactive risk stratification, allowing clinicians to identify individuals who may benefit most from early screening and preventative lifestyle or pharmacological interventions. It offers a sophisticated, evidence-based view of an individual’s inherent biological vulnerabilities.