DNA Risk Scores and Drug Matching: What a New Medical Review Says

The New England Journal of Medicine has published a review article looking at two related areas of genetics research: polygenic risk scores and pharmacogenomics. Together, they represent a growing body of work on how a person’s DNA might one day guide their medical care more precisely than current standard approaches allow.

A polygenic risk score is a calculation that draws on hundreds or thousands of tiny variations across a person’s genome to estimate how likely they are to develop a particular condition — heart disease, type 2 diabetes, and certain cancers among them. Pharmacogenomics, the related field mentioned in the review, looks at how a person’s genetic make-up affects the way they respond to medicines. The idea is that the same drug, at the same dose, can work very differently depending on your genes.

The NEJM authors reviewed how both tools might be used in everyday clinical settings — not just in research laboratories. That’s the shift the article is pushing at: moving these techniques from academic interest into GP surgeries and hospital clinics.

But the review is exactly that — a review. It does not announce a new treatment, a policy change, or a clinical trial result. It maps out where the evidence currently sits and where the gaps remain.

Anyone with questions about genetic testing or their personal disease risk should speak to their GP in the first instance. NHS 111 can also advise on whether a referral to a specialist genetics service is appropriate.

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*The full article is available through the New England Journal of Medicine. Speak to your GP or call NHS 111 if you have concerns about your health or family history of disease.*