Evaluating the Use of Generative Artificial Intelligence to Support Genetic Counseling for Rare Diseases.

ABSTRACT: Background/Objectives: Rare diseases often present challenges in obtaining reliable and accurate information than common diseases owing to their low prevalence. Patients and families often rely on self-directed learning, but understanding complex medical information can be difficult, increasing the risk of misinformation. This study aimed to evaluate whether generative artificial intelligence (AI) provides accurate and non-harmful answers to rare disease-related questions and assesses its utility in supporting patients and families requiring genetic counseling. Methods: We evaluated four generative AI models available between 22 September and 4 October 2024: ChatGPT o1-Preview, Gemini advanced, Claude 3.5 sonnet, and Perplexity sonar huge. A total of 102 questions targeting f

SUBMITTER: Jeon S 

PROVIDER: S-EPMC11941130 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature