New genetic tests ‘can identify those at risk of heart disease’

New predictive genetic tests have allowed GPs in north England to identify people most at risk of heart disease in the world’s first pilot of the technology.

The NHS study, called Heart, offered genetic tests to nearly 1,000 people aged between 45 and 64, in the hope of better predicting their risk of developing cardiovascular disease over the next 10 years.

Practitioners at 12 GP surgeries in the north-east and north Cumbria found that the calculated risk of heart disease based on routine measures such as family history, blood pressure, body mass index and smoking status changed for about a quarter of participants when their DNA was taken into account.

In 13 per cent of cases, GPs said the shift in heart disease risk was substantial enough for them to change their management of the patient, for example by recommending cholesterol-lowering statins.

Professor Sir Peter Donnelly, the founder and chief executive of Genomics, the company that developed the genetic tests, said a further 700,000 people in England aged 45 to 64 had a high enough risk of heart disease to be recommended statins, but were “invisible to the NHS” because existing assessments failed to identify them.

“Heart studied the impact in cardiovascular disease, but in future a single blood sample could be used to calculate an individual’s risk of many different common diseases simultaneously, and earlier than current methods allow, allowing prevention and treatment more time to work,” he said.

Analysis and modelling by the company suggests that giving the drugs to this group could prevent 11,000 cardiovascular events in 10 years.

Doctors on the Heart study offered genetic tests to 836 people who visited their GPs for NHS health checks. The checks, provided every five years from the age of 40, use an algorithm called Qrisk to estimate a person’s chance of cardiovascular disease in the next decade.

People with a low risk have less than a 10 per cent chance of a heart problem over the coming 10 years, while those at very high risk have more than a 20 per cent chance.

More than 90 per cent of GPs who responded to a questionnaire at the end of the study said the genetic risk tool could be built into their routine care, suggesting there were no practical barriers to adopting the technology.

“The Heart study has shown us that this kind of genomic testing has the potential to transform the way we manage cardiovascular disease in primary care,” said Professor Ahmet Fuat, chief investigator on the study. “Genomic testing improves how we identify those patients who most need preventive measures, closer management, and treatment, and helps us target the right interventions to them.”

Professor Sir Nilesh Samani, medical director at the British Heart Foundation, said the findings demonstrate the “substantial potential” of adding genetic information to clinical assessments to help identify people more likely to develop heart attacks and strokes, thereby allowing earlier intervention to reduce the risk.

“Advances in risk prediction have contributed to the significant fall we’ve seen in cases of heart and circulatory diseases in recent decades,” he said. “Personalised medicine, including incorporation of genetic tests, will be one of the defining advances of the coming decades.”

The honorary professor of primary care cardiology at Durham University said the study was “groundbreaking”. He added that the integration of genetic information into best practice could be a “gamechanger” for patients and GPs, saving lives.