WORKGROUPS

The Network is focused on genomic medicine discovery and implementation research utilizing large biorepositories that are linked to electronic health record (EHR) systems.  The eMERGE workgroups are organized around the Network’s core focus areas: Genomic Risk Innovation & Discovery, Risk Assessment and Return; Recruitment, Retention IRB, & ELSI; EHR Workflow & Infrastructure; Phenotyping; and Provider Uptake and Outcomes.

Each workgroup holds monthly conference calls. Published manuscripts and other notable products from our workgroups can be found on the Publications page.

Genomic Risk Innovation & Discovery

Chairpersons: Adam Gordon (NU) and Matt Lebo (MGB)

The eMERGE Genomic Risk Innovation & Discovery workgroup will focus on the following areas of research in eMERGE:

  • Development of secure cloud environment for data analysis.
  • Coordinate initial projects (use cases) that maximize the use of network wide genomic & phenotypic data.
  • Instruction and workflow on how to use cloud computing (AnVIL).
  • Encouragement of cross-consortium collaboration.
  • Publications on cross phenotype analyses to inform broader PRS implementation.

Comprehensive Risk Assessment & Return

Chairpersons:  Gail Jarvik (UW), Iftikhar Kullo (Mayo), and Cindy Prows (CCHMC)

The eMERGE Comprehensive Risk Assessment & Return workgroup will focus on the following areas of research in eMERGE:

  • Family History data collection
  • GIRA clinical data element integration
  • GIRA development/harmonization
  • Confirmatory monogenic risk integration
  • Adopting validated PRS into GIRA
  • Return & management of risk recommendations.
  • Return of risk profiles (PRS, mendelian, FH, clinical) & timing
  • AnVIL cloud based tools (SMART on FHIR)/AnVIL FHIR to LIMS systems/analysis for GIRA
  • Return of risk profiles (PRS, mendelian, FH, clinical) & timing

Recruitment, Retention, IRB, & ELSI

Chairpersons:  Digna Velez-Edwards (VUMC), Ingrid Holm (BCH), and Wendy Chung (Columbia)

The eMERGE Recruitment, Retention, IRB, & ELSI workgroup will focus on the following areas of research in eMERGE:

  • Develop and maintain network wide protocol
  • Recruitment & barriers
  • Retention strategies
  • Participant/provider surveys and engagement
  • sIRB protocol development and tracking/iREX
  • Education & Ethics/benefits and risk of participation
  • Ethics of returning PRS to diverse patients
  • ELSI for EHR Integration, IRB, privacy, etc.
  • Site ELSI project coordination
  • sIRB protocol development and tracking/iREX

EHR Workflow & Infrastructure

Chairpersons: Robert Freimuth (Mayo), Eta Berner (UAB), and Emma Perez (MGB)

The eMERGE EHR Workflow & Infrastructure workgroup will focus on the following areas of research in eMERGE:

  • Assemble method to capture outcome data (EHR data and patient questionnaire)
  • Clinical data collection/harmonization/R4
  • EHR data integration/FHIR
  • PRS data integration
  • Focus on prospective data workflow
  • Security analysis/risk

Phenotyping

Chairpersons: Shawn Murphy (MGB) and Wei-Qi Wei (VUMC)

The eMERGE Phenotyping workgroup will focus on the following areas of research in eMERGE:

  • Capture data across the Network
  • Collaborative analysis within and outside the Network
  • Phenotypic data refreshes
  • Retrospective/AnVIL cloud intergration
  • Phenotyping conditions of outcome interest

Provider Uptake & Outcomes

Chairpersons: Dave Veenstra (UW) and Nita Limdi (UAB)

The eMERGE Provider Uptake & Outcomes workgroup will focus on the following areas of research in eMERGE:

  • Establish baseline outcomes for participants
  • GIRA management recommendations/uptake
  • Outcomes & clinical utility capture
  • Outcomes & risk reduction analysis
  • Control group analysis
  • Provider education
  • Participant impact/utility – ELSI component