Artificial intelligence in clinical genetics

Abstract Artificial intelligence (AI) has been growing more powerful and accessible, and will increasingly impact many areas, including virtually all aspects of medicine and biomedical research. This review focuses on previous, current, and especially emerging applications of AI in clinical genetics. Topics covered include a brief explanation of different general categories of AI, including machine learning, deep learning, and generative AI. After introductory explanations and examples, the review discusses AI in clinical genetics in three main categories: clinical diagnostics; management and therapeutics; clinical support. The review concludes with short, medium, and long-term predictions about the ways that AI may affect the field of clinical genetics. Overall, while the precise speed at which AI will continue to change clinical genetics is unclear, as are the overall ramifications for patients, families, clinicians, researchers, and others, it is likely that AI will result in dramatic evolution in clinical genetics. It will be important for all those involved in clinical genetics to prepare accordingly in order to minimize the risks and maximize benefits related to the use of AI in the field.