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Genomic Medicine XI: Research Directions in Genomic Medicine Implementation

Event Details

On September 5-6, 2018, the National Human Genome Research Institute (NHGRI) sponsored its 11th Genomic Medicine meeting - Genomic Medicine XI: Research Directions in Genomic Medicine Implementation - at the Hilton La Jolla Torrey Pines hotel in La Jolla, California. 

The objectives of the meeting were to:

  • Summarize the current status of genomic medicine implementation research.
  • Identify obstacles to genomic medicine implementation and how to overcome them.
  • Define where clinical implementation of genomic medicine could or should be 5-10 years from now and how to get there.
  • Inform NHGRI strategic planning process regarding genomic medicine.

Meeting Summary

Executive Summary


September 5-6, 2018
Hilton La Jolla Torrey Pines Hotel
La Jolla, California


  • Wednesday, September 5

  • 8:30 a.m. Welcome and Introductions
    Rex Chisholm
    Teri Manolio

  • 8:45 a.m. Overview of NHGRI's 'Genomics 2020' strategic planning process
    Eric Green
    Slides - Video
  • Session 1: Basics of implementation science and its relation to genomic medicine 
    Moderator: Geoff Ginsburg

  • 9:00 a.m. An introduction to implementation science
    David Chambers
    Slides - Video
  • 9:20 a.m. Frameworks, models and genomic medicine    
    Lori Orlando

    Slides - Video
  • 9:40 a.m. Using RE-AIM framework to evaluate genomic medicine implementation
    Alanna Rahm

    Slides -  Video
  • 10:00 a.m. Discussion
  • Session 2: Resources for genomic medicine implementation
    Moderator: Mary Relling
  • 11:00 a.m. ClinGen and ClinVar: Complementary resources
    Erin Riggs

    Slides Video
  • 11:20 a.m. IGNITE SPARK Toolbox
    Kristin Weitzel
    Slides - Video
  • 11:40 a.m. An introduction to CDC information and resources for translation and implementation in public health genomics
    Muin Khoury
    Slides - Video
  • 12:00 p.m. Discussion
  • Session 3: Novelmodels of genomic medicine implementation
    Moderator: Bruce Korf
  • 1:30 p.m. Implementation of a genetic and wellness assessment initiative across a community health system
    Peter Hulick
    Slides Video     
  • 1:50 p.m. Phenotype mining in electronic health records
    Lisa Bastarache 
    Slides Video      
  • 2:30 p.m. A model for the clinical implementation of genomic cancer medicine
    Lincoln Nadauld
    Slides Video 
  • 2:50 p.m. The Tempus approach to genomic medicine implementation
    Kevin White
  • 3:10 p.m. Discussion
  • 4:30 p.m. Debate - Role of primary care Providers in genomic medicine
    Moderator: Marc Williams
    Carol Horowitz, Pro  (Slides)  
    Gail Jarvik, Con (Slides)  
  • 5:30 p.m. Discussion


  • Thursday, September 6

  • 8:30 a.m. Knowledge management for genomic clinical decision support
    Casey Overby Taylor
    Slides - Video      
  • 8:50 a.m. Bidirectional data flow from clinic to lab and back
    Larry Babb
    Slides Video      
  • 9:10 a.m. Harmonization of data syntax and semantics for large-scale translational research
    Chris Chute
    Slides Video 
  • 9:30 a.m. Patient portals and EHR portability: moving data with the patient
    Gil Alterovitz
    Slides - Video
  • 9:50 a.m. Discussion
  • Panel - What evidence is needed for implementation and when is there enough? 
    Moderator: Pat Deverka
  • 11:00 a.m. Perspectives

    Health system CEO perspective
    Keith Stewart

    Children's hospital CEO perspective  
    Donald Kearns

    Payers' perspective  
    John Wilson

    Population-based precision care - employee healthcare programs can make it happen  
    Jay Wohlgemuth

    Genomic testing companies  
    Bob Nussbaum
  • 1:30 p.m. NHGRI's 'Genomics 2020' strategic planning process - focus on genomic medicine (Moderator: Dan Roden)
    Eric Green
    Teri Manolio
    Anastasia Wise

    Slides - Video (Roden) - Video(Wise) - Video(Panel)
  • 2:30 p.m. Summary and next steps
    Rex Chisholm
    Teri Manolio
    Slides - Video      

Last updated: May 1, 2022