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12:14 PM 19th January 2022
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World-First As NHS Begins Pilot Of Gene Testing To Prevent Common Diseases Like Heart Disease

Photo by National Cancer Institute on Unsplash
Photo by National Cancer Institute on Unsplash
A first-of-its-kind study investigating the use of genetic testing for the prevention of common diseases has now begun in the NHS. The HEART study (Healthcare Evaluation of Absolute Risk Testing) is focused on using genetic information to augment cardiovascular disease (CVD) risk assessment by NHS GPs.

The NHS study, led by Professor Ahmet Fuat, a Darlington GP specialising in cardiology, and NECS (The North of England Commissioning Support Unit), will run across 10 local GP practices in the North of England. Participation will be via GP invitation, and the study will recruit 1,000 healthy volunteers aged between 45 and 64 years old.

HEART is testing an integrated risk tool (IRT), which combines genetic risk with current risk assessment techniques, to provide powerful, predictive risk assessment. Genomics plc has developed world-leading algorithms to calculate polygenic risk scores (PRS) for patients. These are added to current assessment methods, such as QRISK for CVD, which uses factors such as blood pressure, cholesterol, BMI, smoking status, age, and sex, to estimate risk.

Genomic testing can improve our identification of patients who need extra management, screening or treatment

Genetics is an important risk factor for many common diseases like CVD, and others, including diabetes, osteoporosis, and common cancers like breast and bowel cancer. Small differences in our DNA in up to millions of positions, although insignificant on their own, can add up to affect our risk of developing a disease. This can be captured in a polygenic risk score, which can be used to improve risk assessment and prediction, particularly when combined with existing methods.

Risk assessment is essential to identify the patients who would benefit from preventative measures, such as lifestyle changes, extra screening, or treatments, for example, statins to lower cholesterol. Identifying patients and getting them onto the right measures will help the NHS to improve outcomes and use resources more efficiently.

HEART is studying the impact in CVD, 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 preventative approaches more time to work.

Full results are expected to be published later this year, but current modelling suggests that if the test was used across the England among individuals aged 45 to 64 it would identify 700,000 extra people whose risk of CVD would be high enough to be recommended statin treatment and could cut the number of cardiovascular events in this group by 11,000 over 10 years. The estimated cost of CVD to the NHS is £9billion annually, with the wider cost to the UK economy estimated to be £19billion (British Heart Foundation).

Professor Ahmet Fuat, Chief Investigator HEART, GPwSI in Cardiology and Honorary Professor of Primary Care Cardiology at Durham University:
“Prevention is at the heart of general practice and risk assessment underpins that. Genomic testing can improve our identification of patients who need extra management, screening or treatment, and better personalise those interventions to them. Common diseases like cardiovascular disease place a great deal of demand on our resources and anything that helps us use those more efficiently and effectively is incredibly valuable. This could be a game-changer for primary care and I’m excited to be leading such a ground-breaking study.”

Professor Sir Peter Donnelly FRS, FMedSci, Founder and Chief Executive Officer, Genomics plc:
“At Genomics plc we are focused on improving health outcomes for patients, reducing health inequalities, and easing the pressure on NHS resources applied by common diseases. Genomics will help more people onto the right care pathways for them to best manage diseases including cardiovascular disease, diabetes, osteoporosis, and the common cancers. This can help to prevent disease altogether or to catch it early when outcomes are better. The NHS has always been at the forefront of thinking on integrating genomics into healthcare, and the HEART study is further evidence of this. we’re delighted to be working on a world’s first with Professor Fuat and colleagues from primary care, and NECS, to deliver it.”

Professor Dame Sally Davies, GCB DBE FRS FMedSci, Former Chief Medical Officer for England, and board member of Genomics plc:
“I have championed the use of genomics in health, and its potential for personalised prevention, for many years. I did and still do believe genomic services needs to be used more broadly, and in more patients, to drive improvements in care and cost-effectiveness. More than five years ago I wrote that we needed to welcome the genomic era and deliver the genomic dream. The HEART study, the first of its kind anywhere in the world, is evidence that in the UK, the NHS and partners are leading that delivery, and am excited to see this start.”