Polygenic risk scores (PRS) estimate an individual's genetic risk for a disease or trait compared to a matched population. For many rheumatic diseases PRS have been developed that have discriminatory capacity better than some widely used biomarkers, and in some cases are the most discriminatory tests available. These PRS assessments do not rely on the disease being present or its activity level, making them highly valuable for predicting disease development or enabling early diagnosis. However, most PRS to date have been developed in research settings, and in populations of European-ancestry. Further studies are required to assess their utility in clinical settings, in relation to existing tests, and in non-European populations. Such studies are underway, and it is likely in the near future these tests will become widely available, with significant benefits for the practice of medicine.
Keywords: Early diagnosis; Genetic; Heritable; Polygenic risk score; Prediction.
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