Active — Not RecruitingNot Applicable

Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

United States1,000 participantsStarted 2025-03-12

Plain-language summary

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.

Who can participate

Age range1 Year – 20 Years

SexALL

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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.

What they're measuring

Number of Diagnoses in the intervention arm compared to the control arm

Timeframe: 2 years

Trial details

NCT IDNCT06744543

SponsorVanderbilt University Medical Center

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2027-01-01

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