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Chunk #47 — Conclusions and future directions

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Polygenic risk scores: from research tools to clinical instruments.
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We focus on two limitations to the implementation of polygenic risk scores in clinical practice: firstly, the weaker evidence base in application to non-European ancestry; this needs substantial research investment in study collection worldwide and in methodological research to improve genetic prediction in admixed individuals. Secondly, major challenges exist with the interpretation of polygenic risk scores. At its simplest, an individual can be placed on the distribution, ‘your PRS lies at the 22.8th percentile’, which gives limited information on their lifetime risk. But a more nuanced interpretation is needed, for example, a lifetime risk of disease that combines genetic information with their current age, sex, and environmental and clinical risk factors.