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Genetic & genomic testing

What is PRS (Polygenic Risk Score)?

Also written asPolygenic Risk Score / polygenic risk score / multi-gene risk score

PRS (Polygenic Risk Score) is a measure that combines information from a large number of genetic variants — each with a small individual effect — to produce a numerical estimate of a person's susceptibility to a particular disease. It is highlighted in the Japanese Circulation Society's 2025 Heart Failure Clinical Guidelines as a promising tool for estimating disease onset risk and for enabling effective prevention and treatment strategies targeting high-risk individuals. Research and real-world applications of PRS for personalized prevention and preemptive medicine are advancing, though the degree of clinical implementation varies by disease area.

How to interpret an out-of-range result

Your score is a general indication of "predisposition" — think of it as useful guidance for making lifestyle improvements and planning your health screening schedule. It is a good idea to discuss how to make the most of your results with a doctor or qualified specialist.

Frequently asked questions

What can a PRS (Polygenic Risk Score) tell me?
It provides a comprehensive assessment — drawn from a large number of genetic data points — of your predisposition to conditions such as lifestyle-related diseases, cancer, and cardiovascular disease. PRS is an emerging measure whose research and practical applications continue to advance, offering valuable support for early prevention and health screening planning.

Related terms

Quotations from clinical guidelines

疾患発症のリスクを推測するポリジェニック・リスクスコアが構築されてきた。ポリジェニック・リスクスコアが高い患者を対象に選択的に治療を施すことによって、費用対効果の高い治療が可能となることも示されている。

先天性QT延長症候群などでは、単一の遺伝子バリアントのみで規定されるものではなく、ポリジェニック・リスクスコアに代表される複数の遺伝子バリアントによる多因子的機序が提唱されている。

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Other terms in Genetic & genomic testing