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All Publications

  • Clinical use of polygenic risk scores for detection of peripheral artery disease and cardiovascular events. PloS one Omiye, J. A., Ghanzouri, I., Lopez, I., Wang, F., Cabot, J., Amal, S., Ye, J., Lopez, N. G., Adebayo-Tijani, F., Ross, E. G. 2024; 19 (5): e0303610


    We have previously shown that polygenic risk scores (PRS) can improve risk stratification of peripheral artery disease (PAD) in a large, retrospective cohort. Here, we evaluate the potential of PRS in improving the detection of PAD and prediction of major adverse cardiovascular and cerebrovascular events (MACCE) and adverse events (AE) in an institutional patient cohort. We created a cohort of 278 patients (52 cases and 226 controls) and fit a PAD-specific PRS based on the weighted sum of risk alleles. We built traditional clinical risk models and machine learning (ML) models using clinical and genetic variables to detect PAD, MACCE, and AE. The models' performances were measured using the area under the curve (AUC), net reclassification index (NRI), integrated discrimination improvement (IDI), and Brier score. We also evaluated the clinical utility of our PAD model using decision curve analysis (DCA). We found a modest, but not statistically significant improvement in the PAD detection model's performance with the inclusion of PRS from 0.902 (95% CI: 0.846-0.957) (clinical variables only) to 0.909 (95% CI: 0.856-0.961) (clinical variables with PRS). The PRS inclusion significantly improved risk re-classification of PAD with an NRI of 0.07 (95% CI: 0.002-0.137), p = 0.04. For our ML model predicting MACCE, the addition of PRS did not significantly improve the AUC, however, NRI analysis demonstrated significant improvement in risk re-classification (p = 2e-05). Decision curve analysis showed higher net benefit of our combined PRS-clinical model across all thresholds of PAD detection. Including PRS to a clinical PAD-risk model was associated with improvement in risk stratification and clinical utility, although we did not see a significant change in AUC. This result underscores the potential clinical utility of incorporating PRS data into clinical risk models for prevalent PAD and the need for use of evaluation metrics that can discern the clinical impact of using new biomarkers in smaller populations.

    View details for DOI 10.1371/journal.pone.0303610

    View details for PubMedID 38758931

  • The Promises and Perils of Foundation Models in Dermatology. The Journal of investigative dermatology Gui, H., Omiye, J. A., Chang, C. T., Daneshjou, R. 2024


    Foundation models (FM), which are large-scale artificial intelligence (AI) models that can complete a range of tasks, represent a paradigm shift in AI. These versatile models encompass large language models, vision-language models, and multimodal models. Although these models are often trained for broad tasks, they have been applied either out of the box or after additional fine tuning to tasks in medicine, including dermatology. From addressing administrative tasks to answering dermatology questions, these models are poised to have an impact on dermatology care delivery. As FMs become more ubiquitous in health care, it is important for clinicians and dermatologists to have a basic understanding of how these models are developed, what they are capable of, and what pitfalls exist. In this paper, we present a comprehensive yet accessible overview of the current state of FMs and summarize their current applications in dermatology, highlight their limitations, and discuss future developments in the field.

    View details for DOI 10.1016/j.jid.2023.12.019

    View details for PubMedID 38441507