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NHS pilot to test polygenic scores as a screening tool

24 January 2022
Appeared in BioNews 1129

The NHS has launched a world-first pilot study of predictive genomic testing for the prevention of cardiovascular disease. 

The 'Healthcare Evaluation of Absolute Risk Testing' (HEART) study will recruit 1000 healthy volunteers to determine their chance of later developing heart disease and stroke by integrating genetic testing with existing risk evaluation tools. By identifying those at greater risk, preventative measures such as lifestyle advice or statin therapy to reduce cholesterol could be offered to inhibit or delay disease onset.

Study leader Professor Ahmet Fuat, a GP and honorary professor of primary care cardiology at Durham University said 'Prevention is at the heart of general practice and risk assessment underpins that. Genomic testing can improve our identification of patients who need extra management, screening or treatment and better personalise those interventions to them'.

During GP appointments at 10 GP practices in the north of England, participants aged 45-65 years old will provide blood samples, from which DNA will be extracted and analysed. This information will be used to calculate a polygenic risk score to estimate each individual's predisposition to developing cardiovascular disease. The polygenic score will be combined with current risk assessment methods which estimate future risk of cardiovascular disease by looking at non-genetic factors such as blood pressure, weight, cholesterol levels, smoking status, age and gender.

Statistical models predict that if the HEART risk assessment was extended to all individuals in England aged 45-65 years, an additional 700,000 people could be identified as benefiting from statin therapy. This in turn could reduce the number of cardiovascular events by 11,000 over ten years. This would not only improve health and quality of life for many people but would also reduce the financial burden on the NHS and wider economy. 

'Common diseases like cardiovascular disease place a great deal of demand on our resources and anything that helps us use those more efficiently and effectively is incredibly valuable,' said Professor Fuat.

While cardiovascular disease is the focus of the HEART trial, our genomes have a significant bearing on our risk of developing many other common diseases such as diabetes, osteoporosis and certain cancers. If the HEART trial is successful it could pave the way for polygenic scores being used in the risk assessment and treatment of many other conditions.

Polygenic scores are only ever as good as the data used to create them. If the datasets used by Genomics Plc to create the HEART test were mostly of genomes from people with European ancestry the results may be less accurate for people of other ethnicities. Professor David Curtis, a geneticist from University College London, told the Guardian: 'I maintain that this is a test that will work less well in people with minority ancestries and so would be expected to increase inequalities in healthcare'.

Results of the HEART study are due to be published later this year.

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