INTERVENE is a European project with 17 partners that aims to develop new tools to predict the individual risk of developing common complex diseases for clinical use (e.g. cardiovascular disease). The project aims to leverage the power of Polygenic Risk Scores (PGS) which statistically indicate the genetic risk of developing particular disease phenotypes and strengthen predictions with further clinical information that can be validated across population-level biobanks. This research will then explore the use of polygenic scores in clinical settings which may allow for better early intervention and the development of precision medicine to treat conditions such as cancer.

At the EBI, the Genetic Data Platform team aims to build sustainable software services and infrastructure for computing genetic scores. In collaboration with Sam Lambert and the Inouye lab at Cambridge University the team publishes the PGS Catalog Calculator, the first automated workflow to calculate PGS in the context of genetic ancestry, which represents an important step towards making PGS more equitable in diverse populations. The workflow has been deployed by INTERVENE analysts to biobanks and Trusted Research Environments across the USA, Europe, and Asia. The team is working to integrate the workflow with a secure and trusted online platform to enable genetic score analysis and interpretation.