Clinical Decision Support for Genetic Disorders

(SIGHT Trial)

Overseen By Lucas D Richter, MGC, CGC

Age: < 65

Sex: Any

Trial Phase: Academic

Sponsor: Vanderbilt University Medical Center

Disqualifiers: Age, Prior chromosomal microarray

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

1000 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

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.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

How is this treatment for genetic disorders different from other treatments?

This treatment is unique because it involves clinical decision support, which means it uses advanced tools to help doctors make better decisions based on genetic information. Unlike traditional treatments that may not consider genetic factors, this approach aims to personalize care by understanding the specific genetic makeup of a patient's condition. ^{1 2 3 4 5}

Who Is on the Research Team?

Douglas Ruderfer, PhD

Principal Investigator

Vanderbilt University Medical Center

Are You a Good Fit for This Trial?

This trial is for pediatric patients aged between 1 and 20 years with a scheduled visit to VUMC's primary care. It aims to help those who might have undiagnosed genetic diseases by identifying if they need genetic testing.

Inclusion Criteria

I am between 1 and 20 years old and have a visit scheduled at VUMC pediatric care.

Exclusion Criteria

Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC

I am either older than 20 years or younger than 1 year.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Intervention

SIGHT predictions are generated prior to a scheduled encounter, and patients with a high predicted risk are randomized to the SIGHT-guided intervention arm or standard care.

2 years

Follow-up

Participants are monitored for the number of diagnoses, time to genetic testing, and rate of genetic testing over the study period.

2 years

What Are the Treatments Tested in This Trial?

Interventions

• SIGHT

Trial Overview The study tests the SIGHT system, which prompts healthcare providers to discuss the potential need for a chromosomal microarray test with patients. The goal is to see if this support system can shorten the time to testing and improve diagnosis rates.

How Is the Trial Designed?

Group I: Intervention Experimental Treatment 1 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 II: Comparator Active Control 1 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.

Who Is Running the Clinical Trial?

Vanderbilt University Medical Center

Lead Sponsor

Trials

922

Recruited

939,000+

Citations

1. Denmark pubmed.ncbi.nlm.nih.gov

Retinal dystrophies and genetic counselling. [2019]

2. United States pubmed.ncbi.nlm.nih.gov

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. [2022]

3. United States pubmed.ncbi.nlm.nih.gov

Genetics and ocular disorders: a focused review. [2014]

4. Switzerland pubmed.ncbi.nlm.nih.gov

How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization. [2023]

5. Germany pubmed.ncbi.nlm.nih.gov

[Genetic diseases of the eye]. [2015]