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Genetic risk scores fall short in predicting common diseases

Limited accuracy, casting doubt on their suitability for public health screening

17-Oct-2023

Key points from article :

Genetic risk scores, known as polygenic risk scores, are less effective in predicting common diseases like breast cancer and heart disease, according to a study by University College London (UCL).

UCL researchers assessed 926 polygenic risk scores for 310 diseases and found that only 11% of those who develop disease are correctly identified by these scores.

The study, published in BMJ Medicine, highlighted the limitations of polygenic risk scores when compared to traditional screening methods.

The lead author of the study explained that these scores performed poorly when held to the same standards as other medical tests.

For instance, they only identified 10% of eventual breast cancer cases and 12% of coronary artery disease cases.

The research emphasises that polygenic risk scores may not have a role in public health screening programs, contrary to previous expectations.

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BMJ Medicine

Open access, general medical journal by The BMJ

University College London (UCL)

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Genetic risk scores fall short in predicting common diseases