[Rare disease in the age of artificial intelligence]

Recenti Prog Med. 2024 Feb;115(2):67-75. doi: 10.1701/4197.41839.
[Article in Italian]


Introduction: The text examines the impact of artificial intelligence (AI) in the context of rare diseases, exploring how patients turn to AI resources for health information, especially in situations where doctor-patient communication is limited. The article features the case of a doctor specializing in clinical psychology and psychotherapy, diagnosed with thymoma and Good's syndrome, who uses AI resources during his illness.

Methods: The capabilities of five chatbots based on Large Language Models (LLMs), such as GPT-3.5, GPT-4, Bing Chat, Google Bard, and Anthropic Claude are explored. The AIs were queried on various aspects of the disease, from pre-diagnosis and diagnosis to therapeutic, psychological, and caregiver management issues. The responses were evaluated by five experts based on criteria such as: accuracy, relevance, coherence, clarity, practical utility, ethical considerations, empathy, and capacity to respond to questions and concerns.

Results: The results indicate consistency in the evaluators' assessments, with generally high scores across all dimensions. Particularly, systems like Bard and GPT-4 received high ratings in terms of information accuracy and the ability to respond to questions and concerns. Bing and Claude were appreciated for their empathy and tone. Overall, the AI systems' responses were considered appropriate, respectful of ethics and privacy, and useful in the clinical context.

Discussion: The article emphasizes the importance of understanding the reliability and precision of responses provided by AI systems in the clinical field. Although these systems offer high-quality responses, there is significant variability in their performance. Healthcare professionals must be aware of these differences and use such tools cautiously. AI can provide support in some aspects of care but cannot replace genuine human empathy and understanding. Integrating AI into clinical practice presents potential but also challenges, particularly the possibility of providing incorrect information.

Conclusions: The AI systems demonstrate the ability to provide useful advice on clinical and psychological issues, but their use requires caution. It is crucial to distinguish the benefits of AI for patients from the challenges it presents for healthcare professionals. As AI technology continues to evolve, it is essential that its integration into the clinical field is accompanied by continuous research and evaluations, to ensure safe and effective use in the healthcare sector.

Publication types

  • English Abstract

MeSH terms

  • Artificial Intelligence*
  • Communication
  • Empathy
  • Humans
  • Rare Diseases* / therapy
  • Reproducibility of Results