Screening platform and biomarkers for prediction and prevention of diseases of unmet public health need

As the population of the European Union ages, the rising burden of disease is a major challenge to the sustainability and resilience of healthcare systems. The identification of individuals at risk of developing an illness so that they can receive an appropriate treatment before the disease develops is an important factor to address this problem. However, for many health conditions, we lack full understanding of the underlying mechanisms, including the predisposition to disease and how environmental and genetic factors affect the occurrence of the disease.

Projects funded under this topic should address this challenge by developing an open platform for screening individuals with the aim of identifying people at risk of disease. Applicants should clearly identify a disease(s) of unmet public health need, and specify the initial biomarkers to identify people at risk that will be used within the project (e.g. genetic, metabolic, digital and imaging biomarkers, lifestyle/environmental, family inherited disease, and/or combinations of these) and explain their choices with relevant evidence where possible. By the end of the project, the screening platform should be able to be used for population screening and decision-making including selection of the most appropriate intervention(s) and new technology development.

In particular, for the selected disease(s), the project(s) funded under this topic are expected to:

• Set up a comprehensive interdisciplinary collaboration of the clinical research, industrial, public health, and health technologies communities to develop the screening platform and generate the evidence base for general population screening. This platform should be built to operate in an open-source environment allowing interoperability with applications from different providers, and build on clearly identified existing initiatives where relevant, while aiming at facilitating reusability (for example, a modular structure to enable flexibility and customisation to support new developments). The ethics considerations of operating such a platform must be considered and relevant guidelines for digital biomarker design and development should be followed as appropriate.
• Clinically validate and assess the utility of the screening platform and biomarkers¹ to identify people at risk by designing and implementing a large-scale general population cohort screening study in several representative European countries.
• Design and clinically validate innovative assay technologies for disease risk identification, including digital technologies with data capture/analysis.
• Deliver digital tools for more effective and efficient management and execution of screening programmes and improved disease prevention. Artificial intelligence (AI) tools should be robust and explainable where relevant.
• Publish the relevant methods, standard operating procedures (SOPs), algorithms, standards and guidelines to allow the platform to be used more broadly and for diagnostics and therapies to be developed.
• Develop a plan/roadmap based on solid evidence to facilitate the regulatory qualification of the biomarkers identified and used within the project, and seek engagement with regulators where relevant (e.g. through the EMA Innovation Task Force, scientific advice).
• Develop and optimise relevant clinical practice guidelines through systematic evidence and outcome review, while addressing factors influencing uptake of these biomarkers in clinical practice.
• Raise awareness of disease prevention and provide training and education to relevant healthcare professionals, patients and family members. These training materials should be made available for use after the project ends.

A key objective is to facilitate changing healthcare practice, so applicants will need to demonstrate that their outputs can be taken up by healthcare systems and take steps to facilitate this.

Applicants are expected to consider allocating appropriate resources to explore synergies with other relevant initiatives and projects.

¹ _{Biomarkers are biological characteristics, which can be molecular, anatomical, physiological, or biochemical. These characteristics can be measured and evaluated objectively. They act as indicators of a normal or a pathogenic biological process. They allow the assessment of the pharmacological response to a therapeutic intervention. A biomarker shows a specific physical trait or a measurable biologically-produced change in the body that is linked to a disease or a particular health condition. A biomarker may be used to assess or detect a specific disease as early as possible (diagnostic biomarker), the risk of developing a disease (susceptibility/risk biomarker), the evolution of a disease (prognostic biomarker) – but it can also predict response to a given treatment including potential toxicity (predictive biomarker).}

The following impacts are expected:

• Patients benefit from preventive treatment or early disease intervention before onset of symptoms.
• Prevention and early diagnosis of disease, combined with better understanding of the mechanisms involved, leading to the development of more cost-effective interventions and strategies.
• Increased availability of validated biomarkers for disease interception and diagnosis, tested in real-world settings.
• Advanced analytics/artificial intelligence supporting health research and innovation (R&I), resulting in wider availability of personalised health interventions to end-users.