Published 30 Jun 2022

The HEART (Healthcare Evaluation of Absolute Risk Testing) study is the world’s first primary care investigation into the use of polygenic risk score (PRS) genetic testing.

Enrolment in the study has closed, to date 832 consented participants have received their results. Participants aged 45-64, were offered the additional genetic risk testing alongside their CVD NHS Health Check (QRISK).

HEART is conducted across 12 NHS GP practices in the North of England, and has been led by Professor Ahmet Fuat, a Darlington GP specialising in cardiology and the North of England Commissioning Support Unit (NECS), in partnership with Genomics plc.

The study is testing an integrated risk tool (IRT), which combines genetic risk, in the form of a PRS, with best practice CVD risk assessment via QRISK. QRISK is a risk assessment algorithm which takes into account factors such as blood pressure, cholesterol, BMI, smoking status, age, and sex, to estimate risk.

The primary goal of the study is to demonstrate that the integrated risk tool (CVD-IRT), combining both genetic and non-genetic risk factors, can be incorporated into routine primary care. Secondary outcomes of the study include, the impact of the CVD IRT on clinical decision-making, and reviews by the clinicians and participants about the usefulness of the information returned for health and wellness, clinical relevance and operational efficiency.

Initial results are encouraging and suggestive of the test being easy to incorporate into current practice and useful to doctors and patients alike.

Full results of the study are expected in November 2022.