AI-Driven Genotype Prediction Using EHR and Multimodal Data

NCT ID: NCT06791421

Last Updated: 2025-04-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-07-01

Study Completion Date

2025-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Genotype

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Study Groups

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AI-Based Genotype Prediction Using EHR and Multimodal Data

This cohort consists of patients whose historical health data, including electronic health records (EHR), clinical lab results, and multimodal imaging data (such as X-rays, MRIs, and CT scans), will be analyzed by an AI-based prediction model to predict their genotype. There are no active interventions in this cohort, as the study aims to use non-genetic health data to infer genetic information. Participants will not undergo genetic testing but will provide their health data for analysis by the AI system. The goal of this group is to assess the accuracy of the AI model in predicting genotypes and identifying genetic predispositions to various diseases based on available health data.

AI-Predictng Model

Intervention Type OTHER

The intervention in this study involves an AI-based predictive model designed to analyze and integrate patient electronic health records (EHR), clinical lab results, and multimodal imaging data (e.g., X-rays, MRIs, CT scans). The AI model is trained to predict a patient's genotype based on these non-genetic data sources. This model uses machine learning algorithms to detect patterns and infer genetic information that would traditionally require direct genetic testing. There are no active treatments or genetic tests involved in this intervention; rather, the AI system serves as a tool to predict genetic information from available clinical data, offering a non-invasive and potentially more accessible alternative to genetic testing.

Interventions

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AI-Predictng Model

The intervention in this study involves an AI-based predictive model designed to analyze and integrate patient electronic health records (EHR), clinical lab results, and multimodal imaging data (e.g., X-rays, MRIs, CT scans). The AI model is trained to predict a patient's genotype based on these non-genetic data sources. This model uses machine learning algorithms to detect patterns and infer genetic information that would traditionally require direct genetic testing. There are no active treatments or genetic tests involved in this intervention; rather, the AI system serves as a tool to predict genetic information from available clinical data, offering a non-invasive and potentially more accessible alternative to genetic testing.

Intervention Type OTHER

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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The Eye Hospital of Wenzhou Medical University

OTHER

Sponsor Role lead

Responsible Party

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Kang Zhang

Chief Scientist

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University

Guangzhou, Guangdong, China

Site Status RECRUITING

Sun Yat-sen University Cancer Hospital

Guangzhou, Guangdong, China

Site Status RECRUITING

First Affiliated Hospital of Wenzhou Medical University

Wenzhou, Zhejiang, China

Site Status COMPLETED

Second Affiliated Hospital of Wenzhou Medical University

Wenzhou, Zhejiang, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Fei Liu, MD

Role: CONTACT

+86 13810512704

Facility Contacts

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Yunfang Yu

Role: primary

+86 020-81332199

Yuxing Lu

Role: primary

+86 13161233730

Sian Liu

Role: primary

+86-0577-88002888

Other Identifiers

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Genotype

Identifier Type: -

Identifier Source: org_study_id

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