Abstract Objective Given the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association—Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors that can further enable the clinical application of AI in this space. Process A list of relevant factors was developed through GenTBI workgroup discussions in multiple in-person and online meetings, along with review of pertinent publications. This list was then summarized and reviewed to achieve consensus among the group members. Conclusions Substantial informatics research and development are needed to fully realize the clinical potential of such technologies. The development of larger datasets is crucial to emulating the success AI is achieving in other domains. It is important that AI methods do not exacerbate existing socio-economic, racial, and ethnic disparities. Genomic data standards are critical to effectively scale such technologies across institutions. With so much uncertainty, complexity and novelty in genomics and medicine, and with an evolving regulatory environment, the current focus should be on using these technologies in an interface with clinicians that emphasizes the value each brings to clinical decision-making.

Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup

Division of Medical Genetics, University of Utah School of Medicine , Salt Lake City, UT 84112 , United States

Enterprise Information Services, Cedars-Sinai Medical Center, Los Angeles, CA 90025 , United States

Information Services Department, Children’s Hospital of Orange County, Orange, CA 92868, United States

Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic , Rochester, MN 55905, United States

Flatiron Health , New York, NY 10013, United States

Department of Internal Medicine, Sanford School of Medicine, University of South Dakota , Sioux Falls, SD 57107, United States

Department of Artificial Intelligence and Informatics, Center for Individualized Medicine, Mayo Clinic , Rochester, MN 55905, United States

EverMed Genetics and Genomics Consulting LLC , Greenville, SC 29607, United States

Walton Legal PLLC , Murray, UT 84123, United States

CITRIS Health, CITRIS and Banatao Institute, University of California Berkeley , Berkeley, CA 94720, United States

Department of Health Outcomes and Biomedical Informatics, University of Florida , Gainesville, FL 32610, United States

Department of Epidemiology, University of Florida , Gainesville, FL 32610, United States

Department of Public Health Sciences, Biomedical Informatics Center, Medical University of South Carolina , Charleston, SC 29403, United States

Department of Pathology and Laboratory Medicine, Rhode Island Hospital and Lifespan Medical Center , Providence, RI 02915, United States

Department of Pathology and Laboratory Medicine, Warren Alpert Medical School of Brown University , Providence, RI 02915, United States

Departments of Medicine and Biomedical Engineering, Johns Hopkins School of Medicine , Baltimore, MD 21205, United States

Legorreta Cancer Center, Brown University , Providence, RI 02915, United States

Department of Bioinformatics and Genomics, Huck Institutes of the Life Sciences, Penn State University , Bloomsburg, PA 16802, United States

Department of Software and Information Systems Engineering, Ben-Gurion University of the Negev , Beer Sheva 8410501, Israel

Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston , Houston, TX 77030, United States

Department of Genomic Health, Geisinger , Danville, PA 17822, United States