From data to diagnosis: how INTERVENE is shaping the future of predictive genomics

Major achievements of INTERVENE

Thanks to its scale, scope, and interdisciplinary approach, INTERVENE has delivered significant scientific, technical, and translational breakthroughs:

• A federated AI-enabled data analysis platform that enables secure, distributed computation across partner biobanks, integrating genomic, omics, and longitudinal health data to generate advanced integrative genetic scores.
• A strong commitment to open science, making summary statistics, tools, and risk-score calculators openly available to the wider research community, fostering reuse, benchmarking, and continuous improvement.
• Improved predictive power and generalisability, with integrative scores that aim to support preventive medicine, early diagnosis, and personalised planning across diverse ancestries, disease types, and populations.
• A comprehensive ethical, legal, and social (ELSI) framework, addressing issues such as data privacy, regulatory compliance, patient consent, public acceptance, and equitable access to genetic risk tools.

Clinical pilots and real-world validation

In its final phase, INTERVENE launched clinical pilot studies targeting major diseases with high public health impact, including cardiovascular disease, breast cancer, type 2 diabetes, and even rare diseases. These pilots aimed to evaluate both the scientific validity and the real-world usefulness of integrative genetic risk scores: whether they improve prediction beyond classical risk factors, how they perform in diverse populations, and how they can inform screening, prevention, or treatment decisions.

By running these pilots in multiple European countries and biobanks, involving clinical experts, patient-advocacy groups and medical societies, INTERVENE seeks to build a robust framework for translating genetics-based prediction into everyday healthcare.

Project description

Funded under Horizon 2020 (2021-2025), INTERVENE set out with an ambitious goal: to transform how we predict, prevent, and treat disease by combining AI, genomics, and large-scale health data. Specifically, the project sought to:

• harmonise and link genomic and clinical data from more than 1.7 million individuals – by integrating genotyped or sequenced genomes with longitudinal clinical and health-registry data;
• leverage AI-based methods to create integrative genetic risk scores (IGS) that go beyond traditional polygenic risk scores (PRS), by also incorporating disease-relevant “omics” and longitudinal data;
• test utility in real-world clinical and research settings, including common complex diseases (e.g., cardiovascular disease, breast cancer, type 2 diabetes), and rare diseases;
• develop a federated, GDPR-compliant data infrastructure and an open, accessible platform that allows researchers and clinicians to generate, interpret, and build upon these risk scores.

INTERVENE thus represented the largest pool of health data to date for integrative genomics-based risk prediction.

PNO LSH’s role: from proposal to long-term impact

Since the launch of INTERVENE in January 2021, PNO Life Sciences & Health has actively contributed to the consortium’s efforts to push the boundaries of genomics-based disease prediction. Even before the project began, PNO LSH supported the proposal development together with the Institute for Molecular Medicine Finland (UH-FIMM), demonstrating our full lifecycle approach from ideation and proposal writing through project execution, and long-term exploitation.

Eva van de Kraats, Manou Kooy, and Martha Gilbert have been actively involved throughout the project. We supported the project managers at UH-FIMM with coordinating administrative and technical tasks, ensuring the timely delivery of reports, deliverables and milestones and facilitating engagement across all consortium partners. In doing so, we drew on learnings and best practices from a wide portfolio of EU-funded projects.

PNO LSH also led the sustainability and exploitation tasks, defining strategies to ensure that the INTERVENE platform, tools and findings continue to deliver value beyond 2025. This included exploring follow-up funding opportunities, viable business models, and broader adoption pathways.

Through these efforts, PNO LSH helped maintain cohesion across work packages and positioned the project’s outputs for real-world impact.

What’s next for INTERVENE?

As INTERVENE has approached its conclusion, the groundwork has been laid for long-term impact:

• The federated platform and open-access tools will continue to support genetic risk research, even beyond the lifespan of the project.
• Clinical pilot studies and real-world validation efforts will provide data and case studies that may influence future screening, prevention, and treatment guidelines, especially in cardiovascular disease, cancer, and other high-burden conditions.
• The ethical, legal, and social framework developed within INTERVENE can help guide future genomics projects, ensuring responsible, inclusive, and transparent use of genetic data.
• Finally, by combining technical excellence, data diversity, and cross-institutional collaboration, INTERVENE paves the way for integrative genomics to become a key pillar of personalised and preventive medicine across Europe (and beyond).

Overall, we look forward to following the project’s successes and future developments in the genomics field! At PNO LSH, we will continue to support initiatives that advance personalised and preventive healthcare. Would you like to reflect on this article? Contact as by calling +31(0)88 838 13 81 or sent us a message.

This project received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 101016775.

Our expert

Martha Gilbert is consultant at PNO Life Sciences & Health, Netherlands