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Review
. 2025 Mar;33(3):281-288.
doi: 10.1038/s41431-024-01782-w. Epub 2025 Jan 13.

Artificial intelligence in clinical genetics

Dat Duong  1 , Benjamin D Solomon  2
Affiliations
Review

Artificial intelligence in clinical genetics

Dat Duong et al. Eur J Hum Genet. 2025 Mar.

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.

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Conflict of interest statement

Competing interests: BDS is the co-Editor-in-Chief of the American Journal of Medical Genetics, parts A and C, and also receives royalties for textbook authorship from Wiley, Inc. Both of these activities are conducted as approved outside activities separate from his government role. From 2016-2019, was Managing Director for GeneDx, Inc. From 2017-2019, BDS served on the Scientific Advisory Board for Face for FDNA.

Figures

Fig. 1
Fig. 1
Relationships, general definitions, and examples of artificial intelligence, machine learning, and deep learning.
See this image and copyright information in PMC

References

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