A patient having a health check-up.

Genetics tool for check-ups described as a ‘game changer’

Including polygenic risk scores for heart disease has been found to be a useful addition to NHS health checks that doesn’t affect GP workload

The Heart disease advisory tool QRISK can include gene-based risk scores (polygenic risk scores) with little to no disruption to GP workloads, researchers said in a recent press release from Genomics plc.

In the world-first HEART pilot study – HEART standing for ‘healthcare evaluation of absolute risk testing’ – researchers wanted to see how GPs’ workloads would change during routine NHS health checks when polygenic risk scores were included with the standard QRISK tool.

How is QRISK used by GPs?

The NHS health check is a service provided by GPs in England for adults aged 40 years and over. Its main purpose is to spot the early signs of conditions such as stroke, diabetes and cardiovascular (heart) disease.

The QRISK score is an advisory tool used by GPs during these health checks. It helps them work out which of their patients are at an increased risk of heart disease (which can lead to heart attack and stroke) and provide more targeted advice and treatment.

The QRISK score is calculated using patient information such as age, sex, blood pressure, cholesterol, body mass index, smoking status and family history. The score does not yet include information on genetic variants.

The many gene variants of heart disease

Gene variants can have small but measurable effects on a person’s risk of heart disease. One variant by itself might not increase a person’s risk by much, but a number of genetic variants all acting together could increase someone’s chance of developing heart disease. This has prompted researchers to look into which variants increase risk and by how much.

A polygenic risk score is an attempt to put a number to an individual’s predisposition for developing certain conditions, like heart disease, by taking into account all genetic variants. Incorporating this score into NHS health checks as part of the QRISK score creates an integrated risk tool that can better guide GPs and clinicians on how they should proceed with the patient.

Findings from the HEART study

The HEART study, which we first reported on in 2021, is a world-first demonstration that polygenic risk scores for heart disease can be used in primary care. The study recruited over 800 patients aged 45 to 64 in the North-East of England. Participants were given the chance to have their heart disease risk determined through the study’s integrated risk tool, as well as the QRISK score, as part of their routine NHS health check.

Including polygenic risk scoring in health checks involved taking the patient’s blood sample, sending it to be analysed, receiving the results within an agreed timeframe and feeding them back to patients, all without increasing a GP’s workload. In conducting the study, researchers were primarily interested in finding out how easy it would be to roll out the test in practice, and they asked participating GPs if they felt the workflow could be brought into routine primary care in a straightforward manner. Over 90% of GPs agreed it could.

What else did the study find?

The study also showed that the integrated risk tool was viewed as helpful by doctors and patients alike. “I changed my management of a number of my patients directly due to the new information coming through from the integrated tool,” said HEART chief investigator Professor Ahmet Fuat. This is consistent with feedback from many participating GPs, who reported that, because of the tool, they would change the management of 108 of their enrolled patients.

The inclusion of more personalised genetic results also seemed to encourage some patients to take preventative advice more seriously. “Some patients who had been reluctant to start statin therapy, for example, became keen to take them when the new risk scores came through,” said Professor Fuat.

Over 98% of patents who responded to the post-study survey reported finding the results useful, and 87% said they would recommend the test to family and friends. Although further time is needed to understand whether the integrated risk tool reduces the actual number of cardiovascular disease cases in the UK, Professor Fuat believes that “this approach of integrating genetic information into routine best practice could save lives and be a game changer for patients and GPs.”

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