North East and North Cumbria HEART study yields significant results to support the prevention of cardiovascular disease

The world’s first pilot investigating the use of genomic ‘polygenic risk score (PRS) testing’ to support the prevention of cardiovascular disease (CVD) in NHS clinical practice has reported significant, positive results at the American Heart Association Annual World Congress in Chicago earlier this week.

The HEART study (Healthcare Evaluation of Absolute Risk Testing) used genetic information in addition to the current best practice risk assessment and clinical decision tool used by NHS GPs to help prevent and manage CVD (QRISK©2). QRISK incorporates factors such as blood pressure, cholesterol, BMI, smoking status, age, sex, and family history to estimate risk. It is an essential tool for GPs to identify patients at high risk of CVD, and to guide management and treatment decisions, for example lifestyle changes or starting a patient on statins.

The aim of the HEART study was to see whether incorporating genetic testing into current best practice was straightforward, without increasing the burden on practice staff at a time of stretched resources and high workloads. It also assessed the effect of adding genetic information to QRISK, looking at the changes in risk that resulted, and the impact of these on the clinical management decisions made by GPs. In the trial, no individuals were denied treatment they would have received under standard of care.

HEART ran across twelve local GP practices in the North East and North Cumbria, led by Professor Ahmet Fuat, a Darlington GP specialising in cardiology, and NECS (North of England Care System Support), in partnership with the NIHR Clinical Research Network, and Genomics plc, the company which developed the integrated risk tool (IRT) and leads the world in the development of PRS-powered tools.

The pilot met its primary outcome: whether it was practical for GPs to use the new tool, and how useful they and their patients found it. After every patient interaction, GPs were asked whether the IRT could be incorporated into routine primary care in a straightforward manner. At the end of the study, more than 90% of the GP responses agreed that it could be.

Similarly, 87% of participants responding to a study survey said they would recommend the use of this test to friends or family, with almost all saying they found the test to be personally useful and that the results were easy to understand.

24% of participants saw changes to their risk score that were clinically significant when the IRT was used (having their risk level reclassified or having a change in risk of 50% or more). When asked, GPs said they would change the management of 108 people (13.1% of the overall study population).

Professor Ahmet Fuat, Chief Investigator of the HEART study, and Honorary Professor of Primary Care Cardiology at Durham University, said: “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. Prevention is at the heart of what we do as GPs and risk assessment underpins that. We have shown in HEART that genomic testing improves how we identify those patients who most need preventative measures, closer management, and treatment, and helps us target the right interventions to them.

“I changed my management of a number of my patients directly due to the new information coming through from the integrated tool. Some patients who had been reluctant to start statin therapy, for example, became keen to take them when the new risk scores came through. 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 game-changer for patients and GPs. I am proud to have led such a ground-breaking study.”

Professor Sir Peter Donnelly FRS, FMedSci, Founder and Chief Executive Officer of Genomics plc, said: “Genetics is a critical risk factor for many of the most common diseases. That means we can use it to improve health outcomes for patients and ease the pressure placed on doctors and the resources of health systems like the NHS. At Genomics, we are focused on developing techniques and tools to do just that and the results from HEART clearly demonstrate the effectiveness of this approach in practice.

“Our PRS-powered tool clearly helped participants and their GPs to make better decisions about how to manage and prevent cardiovascular disease. We hope that this is an important first step towards a more widespread uptake and adoption of genomic approaches like this. HEART studied 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 prevention and treatment more time to work.”

Stephen Childs, Managing Director of the NHS North of England Care System Support (NECS), said: "Understanding how we can better assess a patient's risk of disease has been a longstanding commitment of NECS. For over 10 years, we have been working with GPs to develop algorithms that we apply to primary data through our digital application, RAIDR. Around 900 practices across the North East and North Cumbria, Yorkshire and Humber and Derbyshire are using RAIDR on a daily basis to enhance the care of their patients by supporting data driven decision making.

“We continuously seek to augment the benefits to patients through the effective use of data. Our long-term goal is to support clinicians to cost-effectively harness the identification of phenotype and genotype factors to facilitate more targeted care and interventions. We have been honoured to make a contribution to this study and delighted that it is generating such useful insight."