Using AI to predict genetic information from health records
Official title: Predicting Patient Genotypes Using Electronic Health Records and Multimodal Data Through AI-Based Models
Run by The Eye Hospital of Wenzhou Medical University · NCT06791421 · Data updated 2026-11-12
This study is testing whether an AI can use your health records to predict your genetic information without needing any genetic tests.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 100000 (estimated) |
| Sponsor | The Eye Hospital of Wenzhou Medical University Academic / other |
| Locations | 4 sites (Guangzhou, Guangdong and 3 other locations) |
| Status | Recruiting |
| Started | July 1, 2023 |
| Main results expected | June 2025 |
| Study ends | June 2025 |
| Registry record updated | April 17, 2025 |
| Trial ID | NCT06791421 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals with comprehensive electronic health records, including medical history, lab results, and imaging data.
✕Probably not a fit
Patients without available health records or those with ambiguous genetic testing results may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to evaluate the effectiveness of an AI-based model that predicts a patient's genotype by analyzing electronic health records (EHR) and multimodal data, including lab results and imaging. The study will utilize historical medical data to train the AI system, which will then compare its predictions against actual genetic testing results. By eliminating the need for direct genetic testing, this approach seeks to provide a non-invasive and cost-effective method for genotype prediction, potentially enhancing personalized medicine and early disease diagnosis. Participants will not undergo genetic testing; instead, their existing health data will be leveraged for analysis.
Why it matters
Potential benefit: If successful, this study could provide a non-invasive and cost-effective tool for predicting genetic information, improving personalized medicine and early disease diagnosis.
How similar studies have gone: While the use of AI in healthcare is growing, this specific approach of predicting genotype from non-genetic data is relatively novel and has not been extensively tested.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
-
Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University
Guangzhou, Guangdong, China Recruiting -
Sun Yat-sen University Cancer Hospital
Guangzhou, Guangdong, China Recruiting -
Second Affiliated Hospital of Wenzhou Medical University
Wenzhou, Zhejiang, China Recruiting -
First Affiliated Hospital of Wenzhou Medical University
Wenzhou, Zhejiang, China Completed
Study contacts
- Study coordinator: Fei Liu, MD
- Email: liufei_2359@163.com
- Phone: +86 13810512704
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Linking genetic changes to symptoms in Egyptian children with congenital muscle disorders
This project will test whether specific genetic changes explain symptoms in Egyptian children under 18 who have congenital myopathies or congenital muscular dystrophies.
-
Natural history of inherited retinal diseases
This project will test whether color vision problems relate to retinal structure and visual function in people with inherited retinal dystrophies and in people without retinal disease.
-
Examining the genetic traits of hereditary xerocytosis
This study is trying to find out more about hereditary xerocytosis by looking at the genes involved and how they affect people with this blood condition.
-
Investigating genetic and environmental factors in cardiovascular and renal diseases
This study looks at how genes and the environment affect heart and kidney health over time in families to help us understand what can lead to diseases.
-
Investigating genetic factors in Plaquenil-induced retinal toxicity
This study is trying to see if certain genetic changes in people can help explain why some patients develop eye problems from the medication Plaquenil while others do not.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.