Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease (SIGHT)

Vanderbilt University Medical Center

Status: Active, not recruiting

Conditions: Pediatrics; Genetic Disease; Clinical Decision Support; Predictive Model

Treatments: Device: SIGHT Prompted Provider Message

Study type: Interventional

Funder types: Other

Identifiers

NCT06744543

241678

Details and patient eligibility

About

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.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 1 to 20 years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Screening

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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1,000 participants in 2 patient groups

Intervention

Experimental group

Description:

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.

Treatment:

Device: SIGHT Prompted Provider Message

Comparator

No Intervention group

Description:

All remaining patients will be the comparator arm which will be standard of care as to avoid ethical situations of withholding potentially important care.