International consortium for integrative genomics prediction

The aim of INTERVENE is to build the largest pool of health data to date and integrate longitudinal and disease-relevant -omics data into genetic risk scores with unprecedented potential for prediction, prognosis, and personalised treatments of complex and rare diseases.

Some of the largest biobanks in Europe and two in the USA with a unique diversity of data will be securely linked and harmonized in a GDPR-compliant distributed repository with data from more than 1.4 million genomes. These data will provide a test bed to demonstrate the potential and benefits of powerful artificial intelligence (AI) technologies on the next generation of integrative genetic scores (IGS).

The partners will evaluate the clinical and economic benefits of IGS in three key disease areas with major public health burden: (i) coronary heart disease, (ii) type 2 diabetes, and (iii) breast cancer.

The newly developed IGS will be taken into clinical environment and their real-world benefits will be evaluated together with clinical experts, European patients advocate groups and medical societies. Moreover, the partners will develop and test novel machine learning models to predict the health trajectories of some rare diseases (i.e. Rett syndrome, Alport syndrome) including the presence/resilience of intellectual disabilities, as well as for SARS-CoV-2 infections. Importantly, to support the application of IGS via public-private partnerships including clinical practitioners, an AI-enabled federated data analysis platform, the ‘IGS4EU’ platform, will be developed for automated IGS generation and interpretation for end-users (i.e. researchers and clinicians).

Additionally, the IGS4EU platform will allow open access of the INTERVENE data and the methodology know-how to the AI community through a competition-based benchmarking environment. In the long term, the IGS4EU platform aims to grow the disease coverage and enable a wide adoption of IGS as a gold standard in clinical research and practice.

At CSC, INTERVENE project is part of the ELIXIR programme.