AI, Big Data and rare diseases

Key points

The EESC:

• welcomes AI’s potential to improve rare disease patient pathways, personalised medicines, and overall quality of life, while acknowledging concerns about data privacy, bias, affordability and accessibility;

• encourages all Member States to digitise health data promptly and adopt ORPHA codes to improve cross-border data sharing and support the European Health Data Space;

• recommends that AI healthcare models access only anonymised and encrypted patient data, and any misuse should be subject to strict sanctions. Clear patient consent frameworks and independent monitoring bodies are key to ensure transparency and accountability;

• calls for the European Medicines Agency to require explainability in AI-driven healthcare decisions and ensure physician oversight for all medical recommendations;

• stresses the need for developing professional training programs on AI diagnostic tools, to ensure human oversight. EU-wide campaigns should raise AI literacy among patients and healthcare professionals;

• recommends that AI models be trained on diverse, gender-balanced datasets to prevent discrimination, with the EU AI Office promoting bias audits and gender-focused pre-market testing. Targeted funding should support women in AI and medical data science;

• calls for the EIT to expand mentorship and leadership programs to boost female participation in AI healthcare, and for Horizon Europe to fund gender-focused AI research to develop better diagnostics for conditions disproportionately affecting women and underrepresented groups;

• highlights that data governance must give patients control over their information, including the right to withdraw consent and understand its use, and encourages patient-led registries and data cooperatives;

• recommends that Horizon Europe fund start-ups and SMEs developing AI for rare disease diagnostics to avoid dominance by large corporations. Public-private partnerships should ensure AI tools are affordable, accessible, and that data access remains fair;

• welcomes AI-driven personalised medicines and rare disease treatments, but points out the need for sustainable pricing mechanisms. Recommends a publicly funded EU AI diagnostic platform and cross-border AI data sharing to benefit smaller hospitals and research institutions;

• calls for EU-wide ethical guidelines for AI in healthcare to ensure equal access, patient safety, and responsible innovation.