UKs’ NHS to use genomic testing to predict heart disease risk


A university spin-off company is to lead a pilot study within the UK’s national health service (NHS) to use genetic information to predict and diagnose heart disease.

In a pilot programme, Genomics plc, a spin off from Oxford University, will take blood samples from 1000 individuals as they attend routine medical appointments. Using a tool developed by Genomics plc, the data will be analysed to estimate the risk that each patient faces, of developing cardiovascular disease within the next ten years.

Genomics’ ‘integrated risk tool’ (IRT) calculates a polygenic risk score (PRS). The score is derived from aligning information from a massive database of individual genetic variants to calculate an individual’s risk if disease. The team’s prediction tool then applies other known factors for cardiovascular disease, such as age, blood pressure, and body mass index.

The company believes that, if applied to everybody in the UK aged between 40 and 60 it could catch those missed by regular screening methods – potentially more than 650,000 people at high risk.  Catching many diseases early in their development increases the chances of successful interventions, from lifestyle changes to medical treatment. Using this genomic approach could make a significant impact to those most at risk. The team point to a recent study in the journal Circulation: Genomic and Precision Medicine, which found the risk of coronary artery disease could be more accurately predicted when existing risk tools were adjusted to include PRS.

Looking further into the future, similar approaches could also be applied for other diseases to enhance the prediction capabilities for breast, prostate and skin cancers, type 2 diabetes and bipolar disorder amongst others.

With the UK considered one of the early pioneers in genomic technologies, Professor Sir Peter Donnelly, Genomics plc founder and chief executive, said: “This represents a real first in personalised medicine. By using genetics we can improve risk prediction for cardiovascular disease so that therapies like statins, as well as lifestyle changes, can be better targeted to the right individuals. This pilot study with the NHS will keep the UK at the forefront, globally, in using the power of genomics to drive improvements in healthcare.”