Faculty, Staff and Student Publications

Publication Date

1-18-2024

Journal

Journal of the American Medical Informatics Association

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.

Keywords

Humans, Artificial Intelligence, Computational Biology, Genomics, Medicine, clinical genomics, artificial intelligence, machine learning, bioinformatics, genomics, translational bioinformatics

DOI

10.1093/jamia/ocad211

PMID

38037121

PMCID

PMC10797281

PubMedCentral® Posted Date

11-30-2023

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

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