Published 6 Apr 2021

OXFORD, Oxon, UK April 2021

6 April 2021, OXFORD, UK – Genomics plc, a pioneering healthcare company that uses large-scale genetic information to develop innovative precision healthcare tools, is pleased to announce the publication of a study in The American Journal of Cardiology that demonstrates that its new integrated risk tool can more accurately predict the risk of CVD across multiple ancestries and ethnicities.

Clinicians around the world already routinely predict CVD risk using factors such as age, sex, cholesterol levels, and blood pressure. In the paper, entitled “Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries”, scientists from Genomics plc and Stanford University validated the clinical use of the Genomics plc integrated risk tool, which also includes genetic information, showing that it outperforms the existing standard-of-care risk calculators in both the USA and the UK.

According to the American Heart Association, an estimated 80% of cardiovascular disease, including heart disease and stroke, are preventable. However, with more than 500 million cases and over 18 million annual deaths, cardiovascular disease remains the No. 1 killer globally and the most expensive disease, costing nearly $1 billion a day in the USA alone. More than 10% of the UK population are estimated to live with CVD. Genomics plc’s new integrated risk tool has the potential to play a major role in saving lives and reducing cost pressure on healthcare systems.

Historically, one major concern for genetics-based risk prediction was that the approach has typically only been validated for people of European ancestries. This is the first time, for any disease, that an integrated risk tool combining a current clinical risk tool and a PRS has been successfully validated across multiple ethnicities and ancestries. The study demonstrated improved CVD predictive performance not only in individuals of self-reported White ethnicities but also Black / African American / Black Caribbean / Black African and South Asian ethnicities.

Prevention is a key part of the future of healthcare provision, and this study demonstrates the viability of using precision healthcare based on genetics to identify risks in a clinical setting. With the ability to identify high-risk individuals across multiple ethnicities much earlier, this study marks a major step towards broad-based implementation in healthcare of this ‘Genomic Prevention’ approach.

Dr. Euan Ashley, Professor of Cardiology and Genetics at Stanford University, said: “This study represents a substantial advance and a key milestone on the path towards the implementation of genetically-informed prevention in routine patient care. There is no greater priority for the field right now than to ensure the benefits of genomics in medicine are available to patients from all backgrounds. We have enjoyed working with the world class team at Genomics plc and look forward to their scientific leadership as we partner in the application of polygenic risk scores to clinical practice.”

Professor Sir Peter Donnelly, CEO of Genomics plc, said: “Differential performance of clinical tools across diverse groups remains a major issue. No ancestry or ethnic group should be disadvantaged by the use of any clinical tool, nor indeed be disadvantaged by the lack of its use. The results of this clinical validation study indicate that our new integrated tool outperforms current methods across ethnicities and genetic ancestries and could help identify more people at risk of cardiovascular disease to get the treatment they need. To our knowledge, this is the first time, for any disease, that an integrated risk tool combining a current clinical tool and polygenic risk scores has been successfully validated across multiple ethnicities and ancestries.”



Tulchan Communications
James Macey White / William Booth / Laura Darnley
+44 (0) 207 353 4200