AI and Precision Medicine: Innovations and Applications

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 4048

Special Issue Editors


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Guest Editor
Department of Biomedical Informatics and Center for Genomic Medicine, University of Utah Eccles School of Medicine, Salt Lake City, UT 84108, USA
Interests: micro-cohorts in clinical trials; single-subject studies; N-of-1 trials; personal genomics; translational bioinformatics; phenomics; clinical informatics; ontologies; therapeutic biomarkers and signatures

E-Mail Website
Guest Editor
Department of Biomedical Informatics and Center for Genomic Medicine, University of Utah Eccles School of Medicine, Salt Lake City, UT 84108, USA
Interests: computational genomics; evolutionary genetics; single-subject studies; N-of-1 trials; personal genomics; translational bioinformatics; phenomics; therapeutic biomarkers and signatures

Special Issue Information

Dear Colleagues,

We invite researchers, scientists, and practitioners to contribute to our upcoming Special Issue on “AI and Precision Medicine: Innovations and Applications”. This Special Issue aims to explore the leading-edge advancements and interdisciplinary applications of artificial intelligence (AI) in the fields of precision medicine and personalized medicine, highlighting the potential of AI to transform personalized healthcare.

Scope and Themes

Precision and personalized medicine represent a transformative approach to healthcare. It tailors medical treatment to the individual characteristics of each patient. This approach relies heavily on data from various modalities, including, but not limited to, genetic, genomic, metabolomic, transcriptomic, proteomics, electronic health records (EHRs), clinical data warehouses, exposomes, environmental exposure, lifestyle, medication histories, and clinical imaging.

Artificial intelligence, encompassing machine learning, neural networks, deep learning (e.g., convolutional neural networks (CNNs), etc.), fusion models, and generative AI (e.g., large language models, diffusion models, late fusion models, etc.), offers unparalleled tools for analyzing the complex, multimodal datasets intrinsic to precision medicine.

Topics of Interest

We are particularly interested in submissions that cover, but are not limited to, the following forms of AI applied to precision or personalized medicine (PM):

Focused research will emphasize specific areas, including the following:

  1. Integrative analysis of multi-omics data using AI for PM;
  2. AI in genomic variant interpretation;
  3. AI models for predictive biomarker identification;
  4. AI approaches to personalized drug repositioning or rescue;
  5. AI-driven personalized therapies from multiple modalities of data;
  6. Deeply personalized clinical decision support systems powered by AI;
  7. AI for the modeling of complex diseases or rare non-mendelian disorders;
  8. AI applications in medical imaging for personalized medicine;
  9. AI-driven wearable and digital health device data analysis;
  10. Personalized AI applied to telehealth and remote patient monitoring;
  11. Pattern recognition models in PM;
  12. Data fusion and interoperability augmenting AI applications to personalized medicine (e.g., multimodal data integration for comprehensive health profiles and digital twins);
  13. Ethical, legal, and social implications of AI in personalized medicine;
  14. AI in predicting drug responses, adverse reactions, and super-responders;
  15. Transformative AI technologies in mental health care;
  16. AI and nonlinear variable interactions in disease prediction and management;
  17. AI-enhanced analysis of patient–clinician encounter videos;
  18. Predictive analytics using EHR, imaging, and omics data;
  19. Wearable device data and AI in chronic disease management;
  20. AI in ICUs;
  21. AI-driven fusion of pathology imaging and genetic data for cancer diagnoses;
  22. Personalized medication management through AI analyses of EHR and pharmacy data;
  23. Digital biomarkers from wearables and mobile devices for disease prediction;
  24. Machine learning (ML): Techniques for predictive modeling and analysis in genomics, proteomics, and beyond;
  25. Generative artificial intelligence (AI): The generation of synthetic biological data for research purposes, drug discovery, and development;
  26. Reinforcement learning: applications in optimizing treatment strategies and clinical trial designs;
  27. Federated learning: For privacy-preserving multi-institutional studies using EHRs and other health data.

Submission Guidelines

Submissions should detail innovative research, methodologies, or applications of AI in the field of precision medicine. We welcome papers addressing single data modalities as well as those exploring the integration of multimodal data.

We look forward to receiving your contributions to this exciting Special Issue, where AI and precision medicine converge to define the future of personalized healthcare.

Prof. Dr. Yves A. Lussier
Dr. Nima Pouladi
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • artificial intelligence
  • precision medicine
  • personalized medicine
  • genomic medicine
  • personal genomics
  • deep learning
  • machine learning
  • generative AI
  • medical AI
  • health AI

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Published Papers (2 papers)

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Research

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9 pages, 1490 KB  
Article
Evaluating Generative AI’s Ability to Identify Cancer Subtypes in Publicly Available Structured Genetic Datasets
by Ethan Hillis, Kriti Bhattarai and Zachary Abrams
J. Pers. Med. 2024, 14(10), 1022; https://doi.org/10.3390/jpm14101022 - 25 Sep 2024
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Abstract
Background: Genetic data play a crucial role in diagnosing and treating various diseases, reflecting a growing imperative to integrate these data into clinical care. However, significant barriers such as the structure of electronic health records (EHRs), insurance costs for genetic testing, and the [...] Read more.
Background: Genetic data play a crucial role in diagnosing and treating various diseases, reflecting a growing imperative to integrate these data into clinical care. However, significant barriers such as the structure of electronic health records (EHRs), insurance costs for genetic testing, and the interpretability of genetic results impede this integration. Methods: This paper explores solutions to these challenges by combining recent technological advances with informatics and data science, focusing on the diagnostic potential of artificial intelligence (AI) in cancer research. AI has historically been applied in medical research with limited success, but recent developments have led to the emergence of large language models (LLMs). These transformer-based generative AI models, trained on vast datasets, offer significant potential for genetic and genomic analyses. However, their effectiveness is constrained by their training on predominantly human-written text rather than comprehensive, structured genetic datasets. Results: This study reevaluates the capabilities of LLMs, specifically GPT models, in performing supervised prediction tasks using structured gene expression data. By comparing GPT models with traditional machine learning approaches, we assess their effectiveness in predicting cancer subtypes, demonstrating the potential of AI models to analyze real-world genetic data for generating real-world evidence. Full article
(This article belongs to the Special Issue AI and Precision Medicine: Innovations and Applications)
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Review

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12 pages, 860 KB  
Review
From Data to Decisions: Harnessing Multi-Agent Systems for Safer, Smarter, and More Personalized Perioperative Care
by Jamie Kim, Briana Lui, Peter A. Goldstein, John E. Rubin, Robert S. White and Rohan Jotwani
J. Pers. Med. 2025, 15(11), 540; https://doi.org/10.3390/jpm15110540 - 6 Nov 2025
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Abstract
Background/Objectives: Artificial intelligence (AI) is increasingly applied across the perioperative continuum, with potential benefits in efficiency, personalization, and patient safety. Unfortunately, most such tools are developed in isolation, limiting their clinical utility. Multi-Agent Systems for Healthcare (MASH), in which autonomous AI agents [...] Read more.
Background/Objectives: Artificial intelligence (AI) is increasingly applied across the perioperative continuum, with potential benefits in efficiency, personalization, and patient safety. Unfortunately, most such tools are developed in isolation, limiting their clinical utility. Multi-Agent Systems for Healthcare (MASH), in which autonomous AI agents coordinate tasks across multiple domains, may provide the necessary framework for integrated perioperative care. This critical review synthesizes current AI applications in anesthesiology and considers their integration within a MASH architecture. This is the first review to advance MASH as a conceptual and practical framework for anesthesiology, uniquely contributing to the AI discourse by proposing its potential to unify isolated innovations into adaptive and collaborative systems. Methods: A critical review was conducted using PubMed and Google Search to identify peer-reviewed studies published between 2015 and 2025. The search strategy combined controlled vocabulary and free-text terms for AI, anesthesiology, perioperative care, critical care, and pain management. Results were filtered for randomized controlled trials and clinical trials. Data were extracted and organized by perioperative phase. Results: The 16 studies (6 from database search, 10 from prior work) included in this review demonstrated AI applications across the perioperative timeline. Preoperatively, predictive models such as POTTER improved surgical risk stratification. Intraoperative trials evaluated systems like SmartPilot and Navigator, enhancing anesthetic dosing and physiologic stability. In critical care, algorithms including NAVOY Sepsis and VentAI supported early detection of sepsis and optimized ventilatory management. In pain medicine, AI assisted with opioid risk assessment and individualized pain-control regimens. While these trials demonstrated clinical utility, most applications remain domain-specific and unconnected from one another. Conclusions: AI has broad potential to improve perioperative care, but its impact depends on coordinated deployment. MASH offers a unifying framework to integrate diverse agents into adaptive networks, enabling more personalized anesthetic care that is safer and more efficient. Full article
(This article belongs to the Special Issue AI and Precision Medicine: Innovations and Applications)
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