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The approach to predictive medicine that is taking genomics research by storm

Polygenic risk scores represent a giant leap for gene-based diagnostic tests. Here’s why they’re still so controversial.
  1. Matthew Warren
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Nik Spencer/Nature

6.6 million — that’s how many spots on the human genome Sekar Kathiresan looks at to calculate a person’s risk of developing coronary artery disease. Kathiresan has found that combinations of single DNA-letter differences from person to person in these select locations could help to predict whether someone will succumb to one of the leading causes of death worldwide. It’s anyone’s guess what the majority of those As, Cs, Ts and Gs are doing. Nevertheless, Kathiresan says, “you can stratify people into clear trajectories for heart attack, based on something you have fixed from birth”.

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Nature 562, 181-183 (2018)

doi: https://doi.org/10.1038/d41586-018-06956-3

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