Adding genetic information to health checks improves identification of people at risk for heart attacks and strokes

Researchers have discovered a better way to identify people at high risk of heart attack, stroke and other major cardiovascular diseases (CVD).

Currently, health assessments, such as the NHS Health Check, attempt to identify people at increased risk of cardiovascular disease over the next 10 years by assessing clinical risk factors, such as blood pressure, rate of cholesterol, diabetes and body mass index, to create a clinical risk score, such as the QRISK2 score. However, these scores do not identify everyone at increased risk.

New research led by the University of Leicester, published in the European Journal of the Heart, shows that adding a polygenic risk score – a measure of risk based on an individual's genetic makeup – significantly improves the identification of high-risk individuals when combined with their clinical risk score in a Integrated Risk Tool (IRT), developed and implemented by Génomique plc.

The study recruited more than 44,000 participants aged 40 to 74 attending an NHS health check at one of 147 GP practices in Leicestershire and Northamptonshire, between 2012 and 2020, and monitored their condition subsequent health.

The QRISK2 score was found to identify 61.5% of people who had a heart attack, stroke or other major cardiovascular disease event as being at high risk at the time of their health check.

However, QRISK2 + IRT identified 68.7% as being at high risk at the time of the health check, a relative increase of 11.7% (the proportion of individuals identified).

Among younger individuals aged 40 to 54, where clinical scores are less sensitive, the QRISK2 score identified only 26% of individuals who experienced a major cardiovascular event as being at high risk at the time of their health check. . The addition of IRT brought this figure to 38.4%, a relative increase of 47.7%.

About half of the study participants were women and around 14% were from ethnic minority communities, mainly South Asian. The study found that adding genetic information worked equally well in men and women and across all ethnicities studied.

Professor Sir Nilesh Samani, professor of cardiology at the University of Leicester and honorary consultant cardiologist at Glenfield Hospital Heart Centre, who led the study, said: “Heart attacks and strokes can be prevented by identifying people at increased risk and providing them with appropriate assistance. including lifestyle advice regarding food, drink, exercise, as well as medications. The key is to identify those at high risk.

“Our study shows that adding genetic information, which is now inexpensive to obtain and can be easily integrated into current assessment by GPs and other healthcare professionals, can significantly improve the identification of people at high risk, particularly among young people where the consequences of a heart attack or stroke can be even more devastating for the individual and their family.

“The study provides crucial evidence in a real-world setting of the benefits of integrating genetic information into clinical practice in the NHS and other health systems to reduce the burden of heart attacks and strokes.”

Professor Sir Peter Donnelly, of Genomics plc, who developed the integrated risk tool, said: “A really important aspect of this research carried out with Professor Samani and colleagues is the diversity of the study population. genetics with current clinical risk tools works well and provides benefits to all ethnicities participating in the study.