Will artificial intelligence live up to its promises for rare diseases?
Will artificial intelligence live up to its promises for rare diseases?
Publish Date: 2026-05-08 04:48:00
Source Domain: www.openaccessgovernment.org
Image: ©andresr | iStock
François Houÿez, Director of Treatment Information and Access at EURORDIS – Rare Diseases Europe, explores opportunities and limitations of AI in the context of rare diseases
The generalised use of AI in healthcare is already a reality. Clinicians use AI to support diagnosis, select personalised treatments in shared decision-making, follow up patients, keep track of medical progress, and process the vast scientific literature required for continuous education.
AI is also embedded throughout the research and development of health technologies, medicines, medical devices and digital tools – from identifying health needs to analysing data, reviewing scientific literature, evaluating products, and repurposing treatments. It is used to monitor drug utilisation, predict supply shortages, and analyse real-world data to compare technologies’ relative effectiveness.
Algorithms capable of diagnosing disease without a healthcare professional’s opinion are already available. Some are developed by commercial companies that operate networks of healthcare centres. The safeguards proposed by ethicists and policymakers – that AI should always be backed up by prohibitively close levels of human oversight – may prove difficult to maintain in practice.
Healthcare systems are also under strain. In the UK, where estimates point to a substantial shortfall of healthcare professionals, the government has suggested that AI could help reduce this gap. (1) In such contexts, AI tools that facilitate and accelerate diagnosis and support treatment selection may be increasingly relied upon. In certain areas, AI systems have even demonstrated performance that rivals or exceeds that of healthcare professionals, including in diagnosing rare diseases.
For AI to fulfil its promise in healthcare for people living with rare diseases, patient involvement is essential
Patients can now access AI-based tools themselves to obtain medical…
