Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study.
Georgi IskrovRalitsa RaychevaKostadin KostadinovSandra GillnerCarl Rudolf BlankartEdith Sky GrossGulcin GumusElena MitovaStefan StefanovGeorgi StefanovRumen StefanovPublished in: Orphanet journal of rare diseases (2024)
We found enthusiasm to implement and apply ML technologies, especially diagnostic tools in the field of RDs, despite the perceived lack of experience. Early dialogue and collaboration between health care professionals, developers, industry, policymakers, and patient associations seem to be crucial to building trust, improving performance, and ultimately increasing the willingness to accept diagnostics based on ML technologies.