Purpose

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.

Condition

Eligibility

Eligible Ages
Between 3 Years and 75 Years
Eligible Genders
All
Accepts Healthy Volunteers
Yes

Inclusion Criteria

  • Adults 18-75 - Children 3 to < 18 - Able to read or understand English or Spanish - Able to provide a healthcare provider or clinician to receive results - Willing to accept GIRA report

Exclusion Criteria

  • Inability to provide consent - Transplant (solid organ or bone marrow) or transfusion within 8 weeks - Research staff and investigators in eMERGE - Not a patient at parent institution

Study Design

Phase
N/A
Study Type
Interventional
Allocation
N/A
Intervention Model
Single Group Assignment
Intervention Model Description
All participants will receive a genome informed risk assessment (GIRA) report. Participants designated as high risk based on their genomic risks will be compared to those without such risks for each condition.
Primary Purpose
Other
Masking
None (Open Label)

Arm Groups

ArmDescriptionAssigned Intervention
Experimental
Participants receiving a Genome Informed Risk Assessment (GIRA)
All participants and their health care providers will receive a Genome Informed Risk Assessment (GIRA) report.
  • Other: Genome Informed Risk Assessment (GIRA) report
    A Genome Informed Risk Assessment (GIRA) report that combines genetic (monogenic risks and polygenic risk scores), family history, and clinical risk information from participants.

Recruiting Locations

Massachusetts General Hospital
Boston, Massachusetts 02114
Contact:
Emma Perez
516-592-0294
efperez@bwh.harvard.edu

More Details

Status
Recruiting
Sponsor
Vanderbilt University Medical Center

Study Contact

Jodell Jackson
615-875-6090
jodell.jackson@vumc.org

Detailed Description

The purpose of the study is to determine if providing a Genome Informed Risk Assessment (GIRA) will impact clinical actions taken by providers and patients to manage disease risk and the propensity of participants to develop a disease reported in the GIRA. New tools in Genomic Medicine - polygenic risk scores, monogenic genetic screening tests, platforms to capture family history, and advanced electronic phenotyping - offer the prospect of early identification of people at especially high risk of common diseases. The investigators developed methods to generate integrated genomic risk assessments for ten conditions; a plan to engage, recruit, and retain ~25,000 subjects to receive these assessments; and methods to study outcomes in those designated high risk and those designated non-high risk. By enhancing understanding of new methods to create and deliver integrated genomic risk assessments, this project will enable prevention and early treatment of people at high risk for common diseases.

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.