Ethical, Legal, and Social Assessment of AI-Based Technologies for Prevention and Diagnosis of Rare Diseases in Health Technology Assessment Processes.

ABSTRACT:

Background

While the HTA community appears well-equipped to assess preventive and diagnostic technologies, certain limitations persist in evaluating technologies designed for rare diseases, including those based on Artificial Intelligence (AI). In Europe, the EUnetHTA Core Model^® serves as a reference for assessing preventive and diagnostic technologies. This study aims to identify key ethical, legal, and social issues related to AI-based technologies for the prevention and diagnosis of rare diseases, proposing enhancements to the Core Model.

Methods

An exploratory sequential mixed methods approach was used, integrating a PICO-guided literature review and a focus group. The review analyzed six peer-reviewed articles and compared the findings with a prior study on

SUBMITTER: Refolo P 

PROVIDER: S-EPMC11988925 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature