Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

1000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-03-12

Study Completion Date

2027-02-01

Brief Summary

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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.

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Detailed Description

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Conditions

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Genetic Disease Pediatrics Predictive Model Clinical Decision Support

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

1:1 allocation by predicted probability to either the intervention group, receiving a SIGHT-prompted provider message, or the control group, receiving standard care without the SIGHT-prompted message. The randomization process will be integrated into the routine clinical workflow, with SIGHT scores generated before regularly scheduled patient visits in pediatric primary care at VUMC.

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

There will be no blinding of participants or physicians as patients and providers will follow standard of care. Providers may dismiss the SIGHT - prompted provider message and not act on its recommendations at any time. No other intervention is planned. Patients would be unaware of the providers' decisions in that case unless the provider chooses independently to discuss the SIGHT score with them. A sample size re-estimation will be conducted after 250 patients have been randomized to account for uncertainty in the initial test-referral rate used in the sample size calculation. An independent analyst, who will be blinded to the randomization assignment, will calculate the observed test-referral rate across all patients.

Study Groups

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Intervention

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.

Group Type EXPERIMENTAL

SIGHT Prompted Provider Message

Intervention Type DEVICE

Among patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated.

Comparator

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

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

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SIGHT Prompted Provider Message

Among patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated.

Intervention Type DEVICE

Eligibility Criteria

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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.

Minimum Eligible Age

1 Year

Maximum Eligible Age

20 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No