Genomic Risk Assessment for Genetic Disorders

(eMERGE Trial)

Recruiting at 11 trial locations

Overseen By Jodell Jackson

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Vanderbilt University Medical Center

Disqualifiers: Transplant, Transfusion, Research staff, others

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

Compensation: Varies

Number of Visits: 1

26877 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

The eMERGE Network embraces the opportunity to use new methods in genomic medicine, information science, and research participant engagement to identify people at very high risk for specific diseases and recommend individualized approaches to prevention and care. The investigators will conduct a prospective study, with diverse and underserved participants, across ten eMERGE study sites to evaluate clinical implementation of a Genome Informed Risk Assessment (GIRA) tool that combines genetic, family history, and clinical risk information from participants.

Will I have to stop taking my current medications?

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

Is genomic risk assessment generally safe for humans?

Research suggests that using human genetics can help identify potential safety risks in new treatments by predicting adverse effects based on genetic data. This approach is useful for assessing safety in treatments that don't have suitable animal models, contributing to a better understanding of potential risks in humans. ^{1 2 3 4 5}

How does the Genome Informed Risk Assessment (GIRA) treatment differ from other treatments for genetic disorders?

The Genome Informed Risk Assessment (GIRA) treatment is unique because it uses advanced genomic techniques, like next-generation sequencing, to assess an individual's genetic risk for disorders by analyzing their entire genome and family history. This personalized approach allows for early intervention and tailored diagnostic procedures, unlike traditional methods that may not consider the full genetic profile. ^{6 7 8 9 10}

What data supports the effectiveness of the Genome Informed Risk Assessment (GIRA) treatment?

Research from the BabySeq Project shows that genomic sequencing in newborns can identify actionable genetic risks, leading to important medical actions and potentially lifesaving interventions for both the infants and their family members. This suggests that using genomic information, like in the GIRA treatment, can be effective in managing genetic disorders. ^{2 7 11 12 13}

Who Is on the Research Team?

Josh Peterson, MD

Principal Investigator

Vanderbilt University Medical Center

Are You a Good Fit for This Trial?

This trial is for adults aged 18-75 and children aged 3-17 who can understand English or Spanish. Participants must be willing to receive a GIRA report and have a healthcare provider to share results with. It's not open to eMERGE staff, non-patients of the institution, those unable to consent, or recent transplant or transfusion recipients.

Inclusion Criteria

I am between 3 and 17 years old.

Able to read or understand English or Spanish

Able to provide a healthcare provider or clinician to receive results

Exclusion Criteria

I have not had a transplant or transfusion in the last 8 weeks.

Not a patient at parent institution

Research staff and investigators in eMERGE

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genomic Risk Assessment

Participants receive a Genome Informed Risk Assessment (GIRA) report

Baseline

1 visit (in-person or virtual)

Follow-up

Participants are monitored for new health care actions and newly diagnosed conditions

12 months

Multiple visits (in-person or virtual) as needed

What Are the Treatments Tested in This Trial?

Interventions

• Genome Informed Risk Assessment (GIRA) report

Trial Overview The study tests a Genome Informed Risk Assessment (GIRA) tool that uses genetic data, family history, and clinical information to assess disease risk and suggest personalized prevention strategies across ten diverse sites.

How Is the Trial Designed?

Group I: Participants receiving a Genome Informed Risk Assessment (GIRA) Experimental Treatment 1 Intervention

All participants and their health care providers will receive a Genome Informed Risk Assessment (GIRA) report.

Who Is Running the Clinical Trial?

Vanderbilt University Medical Center

Lead Sponsor

Trials

922

Recruited

939,000+

Citations

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

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. [2023]

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

Genetic diagnosis for adult patients at a genetic clinic. [2023]

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

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment. [2022]

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

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments. [2022]

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

Personalized genomic disease risk of volunteers. [2021]

6. England pubmed.ncbi.nlm.nih.gov

Using human genetics to improve safety assessment of therapeutics. [2023]

7. England pubmed.ncbi.nlm.nih.gov

Sequential genome-wide association studies for monitoring adverse events in the clinical evaluation of new drugs. [2013]

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

Effects of a HLA-B*15:02 screening policy on antiepileptic drug use and severe skin reactions. [2014]

9. England pubmed.ncbi.nlm.nih.gov

From target discovery to clinical drug development with human genetics. [2023]

10. England pubmed.ncbi.nlm.nih.gov

Genomic risk prediction of complex human disease and its clinical application. [2015]

11. England pubmed.ncbi.nlm.nih.gov

Clinical assessment incorporating a personal genome. [2022]

12. Germany pubmed.ncbi.nlm.nih.gov

BayesMendel: an R environment for Mendelian risk prediction. [2021]

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

Risk categorization for complex disorders according to genotype relative risk and precision in parameter estimates. [2015]