Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"

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.

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.