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AI-Driven Genotype Prediction Using EHR and Multimodal Data

AI-Driven Genotype Prediction Using EHR and Multimodal Data

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Overview

The goal of this clinical study is to explore the potential of using electronic health records (EHR) and multimodal data (such as imaging, lab results, and clinical history) to predict a patient's genotype. The study will evaluate whether predictive models based on this non-genetic data can accurately infer genetic information, which traditionally requires direct genetic testing.

Description

This multi-center, retrospective clinical study aims to evaluate the use of electronic health records (EHR) and multimodal data (such as clinical lab results, imaging data, and medical history) in predicting a patient's genotype. The primary objective of the study is to develop an AI-based prediction model that can infer genetic information by analyzing available health data, eliminating the need for direct genetic testing.The AI model will be trained to process and integrate large datasets, including EHR, lab results, and imaging data such as X-rays, MRIs, and ultrasounds, in order to predict genotypic information. The study will compare the AI-based predictions to actual genetic testing results to evaluate the accuracy of the model. If successful, this method could provide a non-invasive, cost-effective tool for genotype prediction, which could be used in personalized medicine, early disease diagnosis, and risk stratification.Participants will not undergo any genetic testing as part of the study. Instead, their historical medical data will be analyzed by the AI system to predict genetic information and associated disease risks. The study will assess the model's ability to predict genetic predispositions to various health conditions based on the available health data. By doing so, the study aims to advance the use of AI in clinical decision-making and genetic diagnostics.

Eligibility

Inclusion Criteria:

  1. Participants must have comprehensive electronic health records (EHR), including medical history, lab results, and relevant imaging data (e.g., X-rays, MRIs, CT scans).
  2. Participants must have existing genetic testing data available for comparison, if applicable.
  3. Participants must be willing to provide consent for the use of their health data in the study.
  4. Participants must have no active intervention related to genetic testing or prediction during the study period.
  5. Participants should have complete and verifiable health data to allow for accurate prediction by the AI model.

Exclusion Criteria:

  1. Participants without available EHR, lab results, or imaging data.
  2. Participants with ambiguous, inaccurate, or unverifiable genetic testing results that cannot be used for comparison.
  3. Patients with significant discrepancies or missing data that would prevent the AI model from making accurate predictions.

Study details
    Genotype

NCT06791421

The Eye Hospital of Wenzhou Medical University

25 April 2025

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FAQs

Learn more about clinical trials

What is a clinical trial?

A clinical trial is a study designed to test specific interventions or treatments' effectiveness and safety, paving the way for new, innovative healthcare solutions.

Why should I take part in a clinical trial?

Participating in a clinical trial provides early access to potentially effective treatments and directly contributes to the healthcare advancements that benefit us all.

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The duration of clinical trials varies. Some trials last weeks, some years, depending on the phase and intention of the trial.

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Compensation varies per trial. Some offer payment or reimbursement for time and travel, while others may not.

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Clinical trials follow strict ethical guidelines and protocols to safeguard participants' health. They are closely monitored and safety reviewed regularly.
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