AI for Genomics and Personalised Medicine

Several national and regional initiatives already support the pooling of genomic and other health data to advance research and personalised medicine. The next step is to make use of the existing infrastructures and initiatives for the successful exploitation of genomic data to facilitate personalised medicine.

The challenge is to demonstrate the potential and benefits of AI technologies for identifying new knowledge, support clinical research and decision making by linking Europe's relevant genomic repositories, while ensuring full compliance with data protection legislation and ethical principles.

Scope

Proposals should demonstrate the potential and benefits of AI technologies for advancing research and personalised medicine through the linking of relevant genomics data and repositories, according to adequate organisational, regulatory, security, ethical and technical requirements.

Proposals should develop and test AI solutions for linking genomics repositories across the EU, including banks of "-omics" and health related data, biobanks and other registries (including e.g. rare disease registries), with the view of supporting clinical research and decision making. By combining sequenced genomic data and other medical data, physicians and researchers can understand better diseases at a personal level and can determine the most appropriate treatment for a particular person. The focus should be to reduce the burden of diseases for which a treatment exists and to apply such treatments in a more targeted way, to identify new evidences on the predictive value of the AI solutions and to enhance the diagnostic capacity e.g. for rare or low prevalence and complex diseases.

Proposals should demonstrate a potential to build a large-scale distributed repository of relevant genomic data and other -omics and medical data that will enable to advance validation of the new clinically impactful insights supported trough AI solutions. Proposals should ensure compliance with the relevant privacy, cybersecurity, ethical and legal rules. Sex and gender aspects should be considered appropriately. The European Open Science Cloud Initiative (EOSC) may facilitate the access of researchers to the newest data managing technologies, High Performance Computing facilities to process and analyse data and to a European Open Science Cloud list of ICT services while ensuring the appropriate data safety and protection. Proposals should address technical specifications and standards for the secure access and exchange of cross-border genomic and other health data, and collaborate with actions selected under the topic SC1-HCC-06-2020 as relevant for achieving progress towards the expected impacts.

The Commission considers that proposals requesting from the EU up to EUR 10 Million would allow this specific challenge to be addressed appropriately. Nonetheless, this does not preclude submission and selection of proposals requesting other amounts.

The proposal should provide appropriate indicators to measure its progress and specific impact in the following areas:

• Supporting the development and testing of AI technologies on genomics and other linked –omics and health data repositories for identifying new knowledge, support clinical research and decision making, leading to more reliable and meaningful outcomes for advancing research and personalised medicine.
• Promoting the sharing of data and infrastructure for prevention and personalised medicine research, concretely a European network on genomics, seeking to link it with ongoing '-omics' and human cell mapping initiatives.
• Effectiveness of AI technologies for genomics and personalised medicine.
• Measuring patient-based value healthcare outcomes for impact assessment on how genomics, personalised medicine and patient outcomes can help to implement value-based healthcare in Europe.
• Contributing to developing technical specifications for secure access and cross-border exchange of genomic and other –omics and health datasets in Europe for research purposes.
• Facilitating interoperability of relevant registries (including e.g. rare disease registries) and databases in support of genomics and personalised medicine research.
• Supporting the pooling of health data and resources across the EU, and demonstrate the benefits for advancing research, disease prevention and personalised medicine.
• Contributing to standards for genomic data generation, analysis, privacy and sharing of genomic and associated clinical and other phenotype data, including self-reported data, data from wearables, omics, and imaging.
• Contributing to the European Cloud Initiative, notably by providing open, reusable data for prevention, genomics and personalised medicine research.
• Increasing the trust of users (healthcare professionals and patients) and other stakeholders on AI solutions to process and link genomics data with other –omics and health related data for better decision-making and value-based patient health outcomes.

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