Skip to main content

Genomic Medicine XI: Research Directions in Genomic Medicine Implementation

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

Genomic Medicine XI

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.

The GM XI meeting was planned in conjunction with the AGBT-Precision Health 2018 meeting which followed immediately on the adjournment of our meeting at the same location. 


Meeting Summary PDF file
Executive Summary PDF file

Wednesday, September 5

Time Topic Speaker
8:30 a.m. Welcome and Introductions


Rex Chisholm
Teri Manolio

8:45 a.m. Overview of NHGRI's 'Genomics 2020' strategic planning process

Slides - Video
Eric Green

Session 1: Basics of implementation science and its relation to genomic medicine
Moderator: Geoff Ginsburg


9:00 a.m. An introduction to implementation science

Slides - Video
David Chambers
9:20 a.m.

Frameworks, models and genomic medicine    

Slides - Video

Lori Orlando
9:40 a.m. Using RE-AIM framework to evaluate genomic medicine implementation

Slides -  Video

Alanna Rahm

10:00 a.m. Discussion

10:30 a.m. Break
Session 2: Resources for genomic medicine implementation
Moderator: Mary Relling
11:00 a.m. ClinGen and ClinVar: Complementary resources

Slides - Video
Erin Riggs
11:20 a.m. IGNITE SPARK Toolbox

Slides - Video
Kristin Weitzel
11:40 a.m. An introduction to CDC information and resources for translation and implementation in public health genomics

Slides - Video

Muin Khoury

12:00 p.m. Discussion

12:30 p.m. Lunch
Session 3: Novel models of genomic medicine implementation
Moderator: Bruce Korf
1:30 p.m. Implementation of a genetic and wellness assessment initiative across a community health system

Slides - Video     
Peter Hulick
1:50 p.m.

Phenotype mining in electronic health records

Slides - Video      

Lisa Bastarache
2:10 p.m.

Implementing a precision health program using the principles of a learning healthcare system

Slides - Video

Marc Williams
2:30 p.m. A model for the clinical implementation of genomic cancer medicine

Slides - Video 
Lincoln Nadauld
2:50 p.m. The Tempus approach to genomic medicine implementation Kevin White
3:10 p.m. Discussion

4:00 p.m. Break
4:30 p.m.

Debate - Role of primary care Providers in genomic medicine
Moderator: Marc Williams


Pro  (Slides)   Carol Horowitz
Con (Slides)   Gail Jarvik
5:30 p.m. Discussion

6:00 p.m. Meeting Adjourn

Thursday, September 6

Time Topic Speaker
Session 4: Role of electronic health records in implementation
Moderator: Howard McLeod
8:30 a.m. Knowledge management for genomic clinical decision support

Slides - Video      
Casey Overby Taylor
8:50 a.m.

Bidirectional data flow from clinic to lab and back

Slides - Video      

Larry Babb
9:10 a.m.

Harmonization of data syntax and semantics for large-scale translational research

Slides - Video 

Chris Chute
9:30 a.m.

Patient portals and EHR portability: moving data with the patient

Slides - Video

Gil Alterovitz
9:50 a.m. Discussion

10:30 a.m. Break

Panel - What evidence is needed for implementation and when is there enough?
Moderator: Pat Deverka


11:00 a.m. 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
12:30 p.m. Lunch
1:30 p.m.

NHGRI's 'Genomics 2020' strategic planning process - focus on genomic medicine (Moderator: Dan Roden)

Slides - Video (Roden) - Video (Wise) - Video (Panel)

Eric Green
Teri Manolio
Anastasia Wise
2:30 p.m. Summary and next steps

Slides - Video      
Rex Chisholm
Teri Manolio
3:30 p.m. Adjourn

Last Updated: January 4, 2019