Polygenic score pilot for heart disease begins

NHS launches innovative genomic testing project that could help revolutionise heart disease identification and prevention

An NHS pilot scheme of predictive genomic testing that aims to identify cardiovascular disease is now underway. Its announcement was previously covered on this blog back in April 2021.

The study, called Heart (Healthcare Evaluation of Absolute Risk Testing), will aim to test 1,000 healthy volunteers aged between 45 and 64, recruited through GP practices in the north of England.

Using QRisk

As part of a routine health check, GPs will use an algorithm called QRisk to estimate the chance that participants are likely to be affected by cardiovascular disease in the next decade. QRisk works with many factors to provide its estimate, including a person’s age, ethnicity, blood pressure, BMI, cholesterol levels, smoking status, as well as family and medical history.

People whose chance of being affected by cardiovascular disease is 10% or greater should be offered preventative care, such as statins, and lifestyle advise, as recommended by NICE guidelines.

Polygenic scores

The Heart study will add a polygenic risk score to the QRisk analysis to account for the effects of gene variants that can contribute to cardiovascular disease.

Statistical models predict that genetic factors may be the single biggest contributor to heart disease in men aged between 45 and 55. Additionally, it is estimated that around 5% of people across the cohort may be identified as above the risk threshold based on the polygenic score and QRisk together, that would be missed by QRisk alone.

“This could be a game-changer for primary care and I’m excited to be leading such a ground-breaking study,” said the project’s chief investigator Professor Ahmet Fuat. “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.”

Integration into primary care

Many of the conditions GPs deal with regularly are ‘common’, for example, diabetes, depression or heart disease. Unlike conditions caused by a variant in a single gene, such as cystic fibrosis, these can be caused by many different genes as well as external factors, making them more difficult to identify and treat effectively.

The approach pioneered by the study could allow genomics to become more integrated into primary care settings and be applied to more common conditions.

“Prevention is at the heart of general practice and risk assessment underpins that,” said Professor Fuat. “Genomic testing can improve our identification of patients who need extra management, screening or treatment, and better personalise those interventions to them.”

Results from the study are expected to be published later this year. If the approach proves successful, then it could be rolled out more widely and applied to any other types of disease.

You can read more about the pilot scheme in this article

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice.