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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests how well a tool called SIGHT assists doctors and patients in deciding if genetic testing is necessary. SIGHT uses information collected during regular doctor visits to predict who might benefit from a chromosomal microarray test, which can help diagnose certain genetic conditions. The trial will determine if using SIGHT reduces the time to get tested and improves the chances of finding a diagnosis. Children and teens who have a regular check-up at Vanderbilt University Medical Center (VUMC) and have not yet undergone this genetic test might be suitable for the study. As an unphased trial, this study offers a unique opportunity to contribute to research that could streamline genetic testing decisions for future patients.

Will I have to stop taking my current medications?

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

What prior data suggests that SIGHT is safe for use in clinical decision support?

Research has shown that clinical decision support systems (CDSS), such as SIGHT, are generally safe. Studies have found that CDSS tools enhance doctors' medical decisions by providing specific clinical information. They assist doctors in making better choices without introducing new risks to patients.

SIGHT guides conversations and decisions about genetic testing. It uses information already collected during regular doctor visits, avoiding any new procedures or medications. This makes SIGHT easy to use and free from side effects, unlike some treatments.

In summary, SIGHT offers a safe option for patients, improving communication and decision-making in healthcare without adding risks. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the SIGHT protocol because it offers a personalized approach to managing genetic disorders. Unlike traditional methods that may wait for symptoms to worsen before intervention, SIGHT uses predictive analytics to assess risk and guide timely care decisions. By providing clinicians with detailed risk assessments and recommendations, SIGHT empowers healthcare providers to make informed decisions about genetic testing and referrals. This proactive approach has the potential to improve outcomes by catching issues earlier and tailoring care to each patient's unique genetic profile.

What evidence suggests that SIGHT is effective for genetic testing?

Research has shown that tools like SIGHT, studied in this trial, can enhance healthcare. Participants may be randomized to receive either standard care or a SIGHT-guided intervention. These systems assist doctors by offering specific advice based on patient information, potentially speeding up testing and improving diagnostic accuracy. For instance, SIGHT can identify patients who might need genetic testing, streamlining the process and increasing accuracy. Early results suggest that these tools can improve the management of genetic disorders, offering valuable insights during doctor visits. ^{2 6 7 8 9}

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. sciencedirect.com sciencedirect.com/science/article/pii/S1098360021024588

Effect of genetics clinical decision support tools on health ... This data is necessary to evaluate whether CDS tools are effective at influencing management decisions at the point of care and at ultimately improving health ...

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC3638177/

Clinical decision support for genetically guided ... Abstract. Objective. To review the literature on clinical decision support (CDS) for genetically guided personalized medicine (GPM).

3. nature.com nature.com/articles/s41746-020-0221-y

An overview of clinical decision support systems: benefits ... A clinical decision support system (CDSS) is intended to improve healthcare delivery by enhancing medical decisions with targeted clinical knowledge.

4. medrxiv.org medrxiv.org/content/10.1101/2023.08.23.23294506v1.full-text

Genetically Guided Precision Medicine Clinical Decision ... Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or recommendations at ...

5. ascopubs.org ascopubs.org/doi/10.1200/CCI.19.00120

Standards-Based Clinical Decision Support Platform to ... We have implemented a CDS platform that enables PHM of individuals who meet guideline-based criteria for genetic evaluation of risk for familial ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC10685930/

Harnessing the power of clinical decision support systems This review aims to provide an overview of the current state of CDSS, discussing their development, implementation, benefits, limitations and future directions.

7. ascpt.onlinelibrary.wiley.com ascpt.onlinelibrary.wiley.com/doi/10.1002/cpt.2387

Pharmacogenomic Clinical Decision Support: A Review, How ... The purpose of this review is to summarize the types, functions, and limitations of PGx CDS currently in practice.

8. frontiersin.org frontiersin.org/journals/immunology/articles/10.3389/fimmu.2020.02116/full

The Potential of Clinical Decision Support Systems for ... We offer here an overview on existing tools, new developments and novel concepts and discuss the potential of digital CDSS in improving prevention, diagnosis ...

9. academic.oup.com academic.oup.com/jamia/article/31/5/1183/7638521

Genetically guided precision medicine clinical decision ... This systematic review evaluated the literature on CDS systems which have been implemented to support genetically guided precision medicine (GPM).