Artificial intelligence in human genomics and biomedicine Dynamics, potentials and challenges

Abstract

The increasing availability of extensive and complex data has made human genomics and its applications in (bio)medicine an at-tractive domain for artificial intelligence (AI) in the form of advanced machine learning (ML) methods. These methods are linked not only to the hope of improving diagnosis and drug development. Rather, they may also advance key issues in biomedicine, e. g. understanding how individual differences in the human genome may cause specific traits or diseases. We analyze the increasing convergence of AI and genom-ics, the emergence of a corresponding innovation system, and how these associative AI methods relate to the need for causal knowledge in biomedical research and development (R&D) and in medical prac-tice. Finally, we look at the opportunities and challenges for clinical practice and the implications for governance issues arising from this convergence.