Mentatcurated
▸ Concept

Polygenic Risk Scoring

A single number — derived from hundreds of thousands of genetic variants — that estimates an individual's inherited predisposition to a disease.

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In a nutshell

Most heritable conditions (heart disease, type 2 diabetes, certain cancers) are not caused by one faulty gene but by the combined weight of many small-effect variants spread across the genome. A polygenic risk score (PRS) aggregates those signals — typically from genome-wide association studies — into one number. The score predicts population-level risk, not individual destiny: a high score means elevated odds, not a diagnosis. The hard part is that the variant weights are estimated from study populations that are heavily European in ancestry, so scores transfer poorly across ethnic groups — a gap with direct clinical consequences.

Where it came from

Year2007
SourceWellcome Trust Case Control Consortium GWAS, Nature 2007 — large-scale genome-wide association studies made multi-variant risk aggregation practical
Why it matteredThe term 'polygenic risk score' crystallised in clinical literature around 2013–2018 as GWAS sample sizes became large enough to produce useful scores.

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