GPs in the north of England have used predictive genetic tests 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 45 to 64, in the hope of better predicting their risk of developing cardiovascular disease over the next 10 years.
Doctors 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% 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.
Prof 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. Modelling by the company suggests that giving the drugs to this group could prevent 11,000 cardiovascular events in 10 years.
The findings could lay the foundations for an NHS where predictive genetic testing helps GPs to identify people most at risk of a range of common conditions, ranging from heart disease and diabetes to cancer and osteoporosis.
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% chance of a heart problem over the coming 10 years, while those at very high risk have more than a 20% chance.
According to results presented at the American Heart Association annual world congress in Chicago on Monday, 43, or 5.2% of the study participants, moved from low risk to high risk after their DNA was added to their risk assessment. A further 23, or 2.8%, moved from being high risk, with a Qrisk score between 10% and 20%, to very high risk.
More than 90% 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 Prof 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.”
Some of Fuat’s patients who had been sitting on the fence about starting statins for high cholesterol had become keen to take them when their risk was updated with genetic information, he said. “We could not show it in a short study like this, but I believe this approach of integrating genetic information into routine best practice could save lives and be a gamechanger for patients and GPs,” he added.
Prof 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.”
