Pediatric Neurogenetic Diagnosis Support Platform
Diagnostic Support Platform for the Identification of Pediatric Genetic Neurological Diseases Through a Machine Learning-Based Recommendation System
Universidad Nacional Andres Bello
9 participants
Dec 10, 2024
INTERVENTIONAL
Conditions
Summary
This study evaluates a diagnostic support platform, DIAGEN-IA, designed to identify pediatric neurological diseases with a genetic basis. Conducted at Carlos Van Buren Hospital in Chile, it aims to determine if the platform reduces inappropriate referrals to clinical geneticists, improves diagnostic evaluations, enhances referral quality, and increases user satisfaction. A prospective before-and-after design will compare outcomes across two phases: baseline data collection and an intervention phase using DIAGEN-IA. Healthcare professionals will use the platform to guide referrals and diagnostic studies. Outcomes include referral appropriateness, completeness of evaluations, quality of referrals, and user satisfaction.
Eligibility
Inclusion Criteria4
- Neuropediatricians working in the Carlos Van Buren Hospital.
- Participants providing care to pediatric patients (under 18 years of age).
- Native Spanish speakers or those with certified C1-level Spanish proficiency according to the Common European Framework of Reference for Languages.
- Professionals responsible for referring pediatric patients with suspected rare diseases to a clinical geneticist.
Exclusion Criteria1
- Refusal to participate.
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Interventions
The intervention involves the DIAGEN-IA platform, a diagnostic support tool designed to identify pediatric neurological diseases with a genetic basis. Using a Bayesian network model and integrating ontologies such as ORDO, HPO, and HOOM, DIAGEN-IA links phenotypic data entered by physicians to suggested diagnoses and tests. Pediatric neurologists will be trained to use the platform during a 12-month intervention. DIAGEN-IA allows clinicians to input clinical and diagnostic data, generating differential diagnoses and recommended tests, with results exportable in PDF for integration into medical records. Platform usage will be tracked, including login frequency, time spent, and evaluations performed.
Locations(1)
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NCT06725901