Screen4Care

Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

What is the project about?

The “Screen4Care” project is an international transdisciplinary research consortium bringing together partners from academia, industry, and patient organisations to accelerate rare disease diagnosis by developing novel solutions for genetic newborn screening, federated data systems, and AI-based clinical decision-support technologies. The project addresses the long and often burdensome diagnostic journey experienced by patients and families. Patient and stakeholder involvement is a key principle throughout the project, ensuring that the developed solutions are relevant, usable, and acceptable to end users such as patients, their caregivers, and clinicians.

What is the goal of the project?

Within this broader framework, the LBG OIS-C was specifically involved in identifying and involving co-researchers with complementary expertise across technical, legal, ethical, and clinical domains, including patient-centred perspectives. The co-creation activities bring together these diverse perspectives to explore barriers, risks, and opportunities related to federated data systems and AI-based clinical decision-support tools for rare diseases. This process contributes to identifying key requirements and characteristics for integrating these technologies into healthcare systems and to developing initial solution approaches, resulting in a structured, practice-oriented framework for their responsible implementation.
For co-researchers, the project offers the opportunity to contribute their expertise and experiences to the early development of new technologies in the field of rare diseases and to actively help shape innovation in healthcare.
For all participants, Screen4Care researchers and co-researchers, the co-creation workshops also provide valuable opportunities for international networking and transdisciplinary exchange.

Who participates in the project?

• Patients with rare diseases and patient advocates
• Clinicians with a focus on rare diseases
• Computer specialists (e.g., federated data systems, AI, machine learning, data management, medical informatics)
• Legal and ethics experts
• Innovation managers

How are participants involved in the project?

• Co-creation workshops (online and in-person; onboarding, exploration of challenges, and the development and refinement of solutions for federated database systems, federated machine learning, and AI-based clinical decision support)
• Collaborative online follow-up reflection and review processes (including the review of co-creation workshop outcomes, the development of adoptability instruments, and the preparation of a final report)

How are participants recruited for the project?

Based on a systematic ecosystem mapping and an extensive pyramid search, co-researchers with complementary expertise were identified, contacted, and invited to participate in the co-creation workshops following short interviews.

Project lead

Screen4Care coordination: University of Ferrara, EURICE GmbH; Sub-project related to Co-Creation: Gabriela Gan, LBG OIS Center; Marion Poetz, Copenhagen Business School, Denmark

tnoevryn.tna@yot.np.ng

Project website

https://screen4care.eu/

Cooperation partners

Richard Röttger, Sydansk University, Denmark; Jana Zschüntzsch, Universitätsmedizin Göttingen, Germany