Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"
| Registry | NCT06744543, acronym SIGHT |
|---|---|
| Status | Active not recruiting |
| Phase | Not applicable |
| Study type | Interventional; randomized, parallel, masking: none, screening |
| Enrollment | 1000 (Estimated) |
| Sponsor | Vanderbilt University Medical Center (Other) |
| Conditions | Genetic Disease, Pediatrics, Predictive Model, Clinical Decision Support |
| Interventions | SIGHT Prompted Provider Message (Device) |
| Dates | start 2025-03-12, primary completion 2027-01-01 (estimated), completion 2027-02-01 (estimated), first posted 2024-12-20, last updated 2026-09-30 |
| Locations | 1 site in United States |
Related Papers Related Patents Related Grants Related Experts
All trials for Genetic Disease All trials for Pediatrics All trials of SIGHT Prompted Provider Message
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.
| Arm | Type | Interventions | Description |
|---|---|---|---|
| Intervention | Experimental | Device: SIGHT Prompted Provider Message | SIGHT predictions will be generated prior to a scheduled encounter in one of the participating study clinics. Patients with a SIGHT probability above a predefined risk level (0.30 predicted risk based on validation and prior chart review by a genetic counselor, Morley et al, 2021 below) will prompt randomization to the standard care or SIGHT-guided intervention arm. For patients randomized to the SIGHT-guided intervention arm, the clinician responsible for care in that encounter (determined in the usual course of care) will receive a message for that patient and details as to the contributing clinical features that led to the high probability. The message will include a recommendation, but providers will have full discretion to offer genetic testing or refer to genetics providers. The management of screening will follow standard of care at VUMC. |
| Comparator | No intervention | All remaining patients will be the comparator arm which will be standard of care as to avoid ethical situations of withholding potentially important care. |
Sex: All, ages: 1 Year to 20 Years
Inclusion Criteria: * All patients > 1 year old, < 20 years of age with a scheduled visit to the VUMC pediatric primary care. Exclusion Criteria: * Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC and patients > 20 years of age or < 1 year of age.
| Facility | City | Country | Status |
|---|---|---|---|
| Vanderbilt University Medical | Nashville, Tennessee | United States |