Genomic Risk Assessment for Genetic Disorders

(eMERGE Trial)

Not currently 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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial uses new genomic tools to identify individuals at very high risk for specific diseases, aiming to recommend personalized prevention and care strategies. Participants will receive a Genome Informed Risk Assessment (GIRA) report, which combines genetic information, family history, and clinical risk data. This trial suits individuals who have a healthcare provider to receive their results and can understand English or Spanish. As an unphased trial, it offers a unique opportunity to contribute to groundbreaking research in personalized medicine.

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 the Genome Informed Risk Assessment (GIRA) is safe?

Research has shown that the Genome Informed Risk Assessment (GIRA) tool estimates the risk for certain diseases by using genetic and family history information. The GIRA is neither a medication nor a medical procedure, so it does not directly affect the body. As a result, it does not cause side effects like those from drugs or treatments.

The GIRA report provides details about risk levels, aiding doctors in making better health decisions. Since the GIRA offers information rather than physical treatment, no known safety concerns exist with its use.

In summary, the GIRA helps individuals understand health risks and is considered safe because it is not a physical intervention. ^{1 2 3 4 5}

Why are researchers excited about this trial?

The Genome Informed Risk Assessment (GIRA) is unique because it offers a personalized approach to understanding genetic disorders. Unlike current options, which often rely on general screening methods or family history, GIRA dives deep into an individual's genetic makeup to predict potential health risks. Researchers are excited about GIRA because it has the potential to transform how we approach disease prevention, enabling more proactive and personalized healthcare decisions. This method not only enhances early detection of genetic disorders but also empowers individuals with tailored insights into their health.

What evidence suggests that the Genome Informed Risk Assessment (GIRA) is effective for genetic disorders?

Research has shown that the Genome Informed Risk Assessment (GIRA) report, provided to participants in this trial, can identify individuals at high risk for diseases like heart disease by using genetic and family history information. The GIRA combines this data with other health details to present a clear picture of a person's risk for various conditions. Studies have found that this assessment helps healthcare providers offer more personalized prevention and care strategies. This approach aims to catch potential health issues early by understanding a person's unique genetic makeup and risk factors. While still under study, the GIRA holds promise for helping people manage their health proactively. ^{2 3 6 7 8}

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. sciencedirect.com sciencedirect.com/science/article/pii/S1098360023000023

Returning integrated genomic risk and clinical ... The network created the genome-informed risk assessment (GIRA) report to concisely summarize the risk (polygenic, monogenic, family history, and clinical ...

2. mayo.edu mayo.edu/research/emerge-genome-informed-risk-assessment/overview

eMERGE Genome Informed Risk Assessment - Overview The eMERGE phase 4 study investigates how people's genetic makeup and family history affect their risk of getting common conditions such as heart disease, ...

3. genome.gov genome.gov/Funded-Programs-Projects/Electronic-Medical-Records-and-Genomics-Network-eMERGE

Electronic Medical Records and Genomics (eMERGE) ... The Network will research ways to calculate PRS, incorporate the result into a genome informed risk assessment for many common diseases, and return the results ...

4. emerge.study emerge.study/understand-the-risk-report/

Understand the Risk Report The Genome Informed Risk Assessment (GIRA) is the overall report from this research study. This report says if you/your child are at high risk for any of the ...

5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11188112/

The Role of Genomic-Informed Risk Assessments in ... By integrating genetic and clinical risk factors into genomic-informed dementia risk reports, healthcare providers can offer patients detailed ...

6. mayo.edu mayo.edu/research/emerge-genome-informed-risk-assessment/faq

eMERGE Genome Informed Risk Assessment - FAQ The eMERGE study uses genetic results, family history and clinical risk factors to estimate a participant's risk of getting the common conditions mentioned ...

7. mayo.edu mayo.edu/research/emerge-genome-informed-risk-assessment/risk-assessment/polygenic-risk-scores

Polygenic Risk Scores - eMERGE Genome Informed Risk ... The eMERGE Genome Informed Risk Assessment study at Mayo Clinic uses polygenic risk scores to estimate participants' overall risk getting certain diseases.

8. genome.gov genome.gov/sites/default/files/media/files/2024-09/ConceptClearance_eMERGE_Renewal_Sept2024.pdf

Outcomes of eMERGE Genomic Risk Assessment and ... NHGRI proposes two RFAs to extend follow-up and collection of outcome data for the 25,000 participants receiving genomically informed risk ...