AI algorithms for diagnosing rare diseases do not include current human diversity, finds study

Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies, and they can even help establish an early diagnosis. Historically, the visual evaluation and use of some classic anthropometric measurements—diameter of the head, etc.—have enabled early diagnosis in rare diseases. With the most sophisticated and automated techniques, based on artificial intelligence (AI), it is now possible to apply more objective methods. However, most of the AI-generated algorithms have databases with populations of European origins and they ignore the genetic and morphological diversity of human populations of around the world.