The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment (eMERGE)

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.

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.

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.

All participants and their health care providers will receive a 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.

Number of new health care actions will be measured by electronic health record data and participant-reported outcomes through a REDCap survey. Pre-specified actions will include a condition-specific composite of new encounters, clinical orders, or specialty referrals for clinical evaluation associated with the condition(s), placed by a provider within 6 months of result disclosure.

Number of newly diagnosed conditions included in the eMERGE study will be measured by data from participant electronic health records

Number of risk-reducing interventions will be measured by REDCap survey along with data from participant electronic health records

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

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