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eMERGE & CSER: The Convergence of Genomics and Medicine

Event Details

The National Human Genome Research Institute (NHGRI) sponsored the meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the Bethesda Hyatt in Bethesda, Maryland, on February 2, 2017. The meeting focused on research that seeks to rapidly advance the knowledge necessary to develop best practices for the implementation of genomic sequence data into clinical care, as well as research that combines biorepositories with electronic medical record systems for genomic discovery and genomic medicine implementation research.

Hyatt Bethesda
One Bethesda Metro Center
Bethesda, Maryland 20814

Agenda

  • Thursday, February 2, 2017
  • 8:25 - 8:30 a.m. Opening Remarks
    Lucia HindorffNational Human Genome Research Institute
    Video
    Rongling Li, National Human Genome Research Institute
    Video
  • 8:30 - 8:50 a.m. Top 5 Consortium-Wide Achievements from CSER & eMERGE
    Format: Two 7-minute presentations and 3-minute Q&A each
    Gail Jarvik, University of Washington | CSER
    Video | Slides
    Rex Chisholm, Northwestern University | eMERGE
    Video | Slides  
  • 8:50 - 9:35 a.m. Session 1: Revision of ACMG Gene List
    Format: Three 7-minute presentations and a 20-minute discussion
    Moderator Gail Jarvik, University of Washington
    Video 
    Wendy Chung, University of Columbia | ACMG Incidental Findings list 2.0
    Video | Slides
    Sharon Plon, Baylor College of Medicine | VUS or GUS? Variants or genes with weak or uncertain evidence
    Video | Slides
    Ian Krantz, Children's Hospital of Philadelphia | ACMG Gene Lists, Secondary Findings and Children
    Video | Slides
    Panel Discussion
    Video
  • 9:35 - 9:45 a.m. Break
  • 9:45 - 10:30 a.m. Session 2: Family Cascade Testing
    Format: Three 7-minute presentations and a 20-minute discussion
    Moderator Richard Sharp, Mayo Clinic
    Video
    Kathy Leppig, Group Health | Building a Family Network
    Video | Slides
    Janet Williams, Geisinger | eMERGE Familial Implications Workgroup
    Video | Slides
    Leila Jamal, Baylor College of Medicine | Challenges Related to Family Involvement in Clinical Whole-Genome Sequencing: Views of Non-Genetics Providers
    Video | Slides
    Panel Discussion
    Video
  • 10:30 - 11:15 a.m. Session 3: Opportunities for Healthcare Quality Measurement in Genomics
    Format: One 5-minute introduction, one 20-minute presentation, and a  20-minute discussion
    Marc Williams, Geisinger | Introduction and Moderator
    Video
    John Bernot, National Quality Forum | Opportunities for Healthcare Quality Measurement in Genomics
    Video | Slides 

Last updated: February 13, 2017