NHS pilots genetic tests to predict heart disease risk | heart disease

A first global pilot project of predictive genetic testing to identify people at high risk of cardiovascular disease is underway in doctors’ surgeries in the north of England.

The NHS pilot, called Heart, is offering genetic testing to 1,000 healthy volunteers aged 45 to 64 to give more accurate predictions about their risk of heart disease and stroke.

The pilot could be the first step towards a wider roll-out of predictive genetic testing on the NHS to improve screening for people at risk of a variety of common diseases, including breast and bowel cancer, diabetes and osteoporosis.

Professor Sir Peter Donnelly, founder and chief executive of Genomics, the company that developed the tests, said: “These are people going about their daily lives who are at high risk of cardiovascular disease and who are currently invisible to the NHS. . We can find those people who are actually at quite high levels of risk but are unaware of it. »

Genetics is an important risk factor for many common diseases, including heart disease. However, until recently it was impossible to quantify the genetic component of risk because it is usually scattered over thousands of DNA regions. The advent of large genetic databases has changed this, allowing scientists to develop algorithms that aggregate the contributions of large numbers of genes into a “polygenic risk score” (PRS) for a given condition.

Participants will be recruited from those undergoing a routine NHS health check which is offered to people over the age of 40. As part of the screening, GPs use an algorithm called QRisk which combines non-genetic factors such as age, blood pressure, smoking history and cholesterol to identify those at risk. People who are estimated to have a 10% chance of having a heart attack or stroke within the next 10 years are given advice on lifestyle changes and medications such as statins.

The pilot will combine the QRisk score with the genetic score to provide a more accurate risk estimate. Research suggests that in men aged 45 to 55, PRS is the most important risk factor, explaining about the same risk of heart disease as the combined effect of all non-genetic risk factors. Overall, about 5% of people aged 45 to 65 are expected to be above the statin risk threshold based on PRS and QRisk combined, but not on Qrisk alone. Applied to the number of 45-65 year olds in England, if these additional people were all treated with statins, around 9,500 cardiovascular events could be prevented over 10 years.

Michael Brennan, 61, who is retired and lives in Darlington, said he had no hesitation in signing up for the pilot. “I’m probably not the only one at this time of year thinking about health and lifestyle,” he said. He is awaiting his results, but said he would be happy to know anyway. “If I know, I have a chance to do something about it,” he said.

However, some fear that rolling out the tests could lead to “genetic fatalism”, because unlike most other risk factors, genetic factors are not modifiable. There are also concerns that the tests, which were largely developed using genetic data from white Europeans, may give less accurate results for people of other ethnic backgrounds. Donnelly said the company has “worked hard” to resolve this issue in which genetic ancestry is taken into account when calculating risk scores.

However, Professor David Curtis, a geneticist and psychiatrist at University College London, said the tests had not been shown to work equally well for people from all backgrounds. “I maintain that this is a test that will work less well in people of minority ancestry and therefore should increase health care inequities,” he said.

Professor Ahmet Fuat, lead researcher of the pilot project and a general practitioner specializing in cardiovascular health, said genetic testing could be a game-changer for primary care. “Genomic testing can improve our identification of patients who need additional care, screening or treatment, and better personalize these interventions for them,” he said. “Common illnesses like cardiovascular disease put a huge strain on our resources and anything that helps us use them more efficiently is incredibly valuable.”

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