NHS trials genomic testing to predict risk of heart disease

The pilot study in north-east England will pioneer a personalised medicine approach.
By Tammy Lovell
12:59 pm
genomics, personalised medicine

(Photo by MR.Cole_Photographer/Getty Images)

UK biotech firm Genomics plc is working with the NHS on a pilot study using genetic information to predict patients’ risk of heart disease. 

Around 1,000 people in north-east England who attend routine GP health checks, will take part in the trial.

An integrated risk tool (IRT), created by Oxford University spin-off Genomics plc, will be used to estimate each patient's risk of developing cardiovascular disease (CVD) within the next 10 years. 

Patient blood samples will be analysed to calculate a polygenic risk score (PRS), combing information from thousands of individual genetic variants to indicate an individual’s predisposition to disease. 

This score is then added to the prediction tool QRISK, which uses traditional risk factors for CVD such as age, blood pressure and body mass index (BMI). 

Genomics plc predicts that if the IRT were applied to everybody in the UK aged between 40 and 60 it could identify more than 650,000 people at high risk of CVD who are missed by current screening. 

The trial is due to run from late Spring until late Autumn this year.


The genomic prevention approach to healthcare can identify people at risk of developing disease early, allowing high-risk individuals to make lifestyle changes or receive medical interventions.

A recent study published in the journal Circulation: Genomic and Precision Medicine, found the risk of coronary artery disease (CAD) could be more accurately predicted when existing risk tools were adjusted to include PRS.

The approach could also be used to predict risk of other diseases such as breast, prostate and skin cancers, type 2 diabetes and bipolar disorder. 


The UK is regarded as a pioneer in Genomics with the founding of Genomics England and the 100,000 Genomes Project, which aimed to fully sequence 100,000 genomes to better understand diseases such as cancer.

In September last year, health secretary Matt Hancock launched the Genome UK national strategy, which plans to harness genomics to offer patients personalised treatments, predict the risk of chronic diseases for vulnerable groups and enable earlier interventions.

The UK is also offering its genomics expertise to other countries in order to help them identify new variants of COVID-19 through the launch of the New Variant Assessment Platform

Meanwhile, earlier this month, Genomics plc announced a $30 million oversubscribed funding round.  The investment will be used to expand the firm’s work on building a patient-centric, population health platform. 


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.”


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