In the EU alone, according to the Orphanet DB (https://pubmed.ncbi.nlm.nih.gov/31527858/), 30 million persons, 3,5-6% of the general population, are affected by one of the 6,172 different rare diseases (RDs) of which 72% are genetic and 70% affect children. The path to diagnosis for people suffering from a RD is burdensome, often severely delayed by a diagnostic odyssey. Lack of timely diagnosis affects disease management, family planning, identification of potential beneficial treatments and / or clinical trials. This unacceptable situation does not meet the concept of equity for EU citizens, and requires rapid, structured, and cost-effective corrective actions. The Screen4Care (S4C) consortium will leverage the genomic and digital advent to develop and pilot genetic NBS and AI-guided symptom recognition algorithms, while accounting for all relevant legal, regulatory and ethical considerations. S4C aims to harmonize the results of existing efforts in a horizon scan, by looking at the totality of the available data resources, diagnostic algorithms, and other initiatives with similar ultimate goals. The genetic NBS will interrogate 1) currently treatable RDs (TREAT-map gene panel), 2) actionable RDs (ACT-map gene panel) in 18.000 new-borns in 3 EU countries (D, It, and Cz). Further, S4C will offer whole genome sequencing (WGS) to early symptomatic babies, tested negatively during panel-based NBS to identify known NBS-escaped RDs and novel genes/phenotypes. S4C will also provide two digital diagnosis support systems for RD on the basis of features and symptom complexes: 1) federated ML- and literature-evidence-based algorithm for continuous and automated screening of EHR and 2) meta symptom checker with virtual clinics for patients and HCP offering the possibility of increased accuracy of diagnosis and ongoing supports. Our ambitious goal is to evaluate the validity of our multi-pronged approach to shorten the time to diagnosis for all patients affect by RDs, improve value-based healthcare resource utilization, and hopefully reduce the suffering of millions of European citizens.

The European Rare Diseases Research Alliance (ERDERA) aims to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in Rare Disease (RD) research and innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment. This Partnership will deliver a RD ecosystem that builds on the successes of previous programmes by supporting robust patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in RD research across countries and regions. Structuring goal-oriented public-private collaborations targeted at interventions all along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising EU innovation potential in RD. To support its ambition and missions ERDERA has been designed as a comprehensive and integrated ecosystem of which structure can be compared to an institute encompassing three main parts: (i) funding, (ii) internal (in house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs and accelerating diagnosis and translation of research discovery into improved patient care, and (iii) related supporting services (Data, Expertise, Education and Training) as well as an acceleration hub that serve external and internal RD community, all supported by all-embracing coordination and strategy and foundational (inter)national alignment.

Enhancing stakeholder engagement in cancer research is essential for advancing the relevance, impact, ethicality, and equity of research outcomes. Engaging patients, caregivers, clinicians, researchers, and community representatives in the research process enables synergistic optimisation of potential impact. The PERIFORMANCE project focuses on promoting local action for Mission: Cancer and aims to leverage the federated biobanking domain as focal points for transdisciplinary research and innovation activities with European outreach. Biobanks, particularly those using population cohorts dedicated to cancer research, set the sampling frame to explore best practices and identify needs in the context of stakeholder engagement. PERIFORMANCE goes beyond the standard patient/public involvement (PPI) practices and adopts a quadruple helix perspective on stakeholders, which includes patients and donors, research and healthcare professionals, industry partners, and policymakers. By addressing the use of AI and EHDS in biobanking within cancer research, the project aligns with the call’s objectives to foster systemic solutions at a time of major sociotechnical transformations. Its emphasis on ethical, legal, and societal dimensions resonates with the call’s focus on ensuring that technological advancements contribute positively to public trust and societal well-being. PERIFORMANCE prioritises broad dissemination and training, ensuring its outcomes are widely accessible and scalable. Its approach supports the call’s goal of achieving broad, lasting impact across Europe, reinforced by an open call for bottom-up engagement exercises in diverse contexts, considering local or regional needs. PERIFORMANCE will contribute to the EU’s Mission: Cancer by fostering informed participation among stakeholders, enhancing the ethical use of new technologies and boosting the relevance and equity in public policy and research outcomes.

The Genetics Clinic of the Future (GCOF) project aims to ensure that the clinical implementation of genome technologies is relevant and responsive to the needs of all. It offers a stepping stone approach towards the genetics clinic of the future, engaging all stakeholders involved in a process of mutual learning and information exchange. The GCOF project implements key Science with and for Society issues, ensuring that ethical reflection and stakeholder involvement do not occur in parallel, but are effectively integrated in the core of the project. It establishes a robust communication and implementation strategy that integrates the project’s outcomes and recommendations in research and clinical practices and policy processes, outlining opportunities for a more responsive health research and innovation system by: 1. Envisioning the Genetics Clinic of the Future (WP1) 2. Mapping out the concept of data control (WP2) 3. Considering ethical and legal dimensions in the consent framework (WP3) 4. Exploring novel models for use of clinical data in research and vice versa (WP4) 5. Initiating public engagement, mutual learning and dissemination (WP5) 6. Engaging policy makers (WP6) The consortium brings together 12 key partners from 10 countries across Europe who represent the breadth of stakeholders involved in the genetics clinic of the future: genomics research, clinical genetics, bioinformatics, public health, policy making, patient representation, education, commercial genetics and bioinformatics services, social research, communication, responsible innovation and ethics and law. The GCOF project connects to the major EU-initiatives in the field of personalised health and care. The consortium also represents a variety of organisation types, including research organisations, businesses, policy makers, civil society organisations, education establishments and science & society centres.