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Bringing polygenic risk scores to the clinic

Nat. Genet. (2018).

Genetic testing that allows calculation of the risk of developing common diseases based on multiple genetic variants may now be ready to be used in the clinic in a meaningful way.

Scientists have long known that for many common diseases, the chance of development is influenced by multiple genes; however, it has previously not been possible to refine these predictions in enough people such that they are relevant to clinical decision making.

Sekar Kathiresan and his colleagues in the Boston area developed risk scores based on multiple genes for coronary artery disease, atrial fibrillation, type 2 diabetes, inflammatory bowel disease and breast cancer identified through recent genome-wide association studies. They tested and validated the genes in data from the UK Biobank. They found that the predictions were reliable enough to consider using these scores in the clinic.

It will be important to further test these predictions in other populations.

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Correspondence to Hannah Stower.

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Stower, H. Bringing polygenic risk scores to the clinic. Nat Med 24, 1303 (2018).

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