First-of-its-kind NHS gene pilot takes off

The NHS has begun a world-first study investigating the use of genetic testing for the prevention of common diseases.

The HEART study (Healthcare Evaluation of Absolute Risk Testing) will focus primarily on using genetic information to augment cardiovascular disease (CVD) risk assessment by NHS GPs.

Professor Ahmet Fuat – a Darlington GP specialising in cardiology – is leading the study, which will run across ten local GP practices in the North of England. In addition, HEART is testing an integrated risk tool (IRT), which combines genetic risk with current assessment techniques.

Genetics is a significant risk factor for many common cancers like breast and bowel cancer, as well as other diseases. This elevates the importance of risk assessment in identifying patients who will benefit from preventative measures, such as lifestyle changes and extra screening, improving patient outcomes and overall quality of life in the process.

Professor Ahmet Fuat, Chief Investigator HEART, GPwSI in Cardiology and Honorary Professor of Primary Care Cardiology at Durham University, commented: “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.”

While HEART is currently studying the impact of CVD, in future a single blood sample could be used to calculate an individual’s risk of numerous different common diseases simultaneously. Such testing could also accelerate treatment pathways and optimise supply chains within pharma.

Full results of the HEART study are expected to be published later this year.