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Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda

Event Details

On February 9-10, 2021, the National Human Genome Research Institute (NHGRI) sponsored its 13th Genomic Medicine meeting, Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.  

The goal of this meeting was to develop a research strategy on the use of genomic-based clinical informatics resources to improve the detection, treatment and reporting of genetic disorders in clinical settings.

The objectives of this meeting were to:

  • Define the current status of genomic-based clinical informatics resources and related knowledge gaps;
  • Determine facilitators and barriers that affect the development and deployment of genomic-based clinical informatics resources and research needed to address them;
  • Identify research needed to improve how genomic-based clinical informatics resources impact the patient and clinician decision-making processes.

Manuscript

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.
J Am Med Inform Assoc. 
April 29, 2002

Summaries

Executive Summary

Meeting Summary

to

Online

Presentations

PDF file
Marc Williams

GMXIII: Developing a Clinical Genomic Informatics Research Agenda Survey Results
PDF file
Casey Overby Taylor

Technical Desiderata for gCDS: A Reflection on Implementation in eMERGE III
PDF file
Janina Jeff

Inherent Racism Induces Bias in Algorithm Development: Can Implementation of Genetic Information in Clinical Informatics Decision Be Different?
PDF file
Gil Alterovitz

Intelligence Augmentation at its finest: How to use genomic-basedclinical informatics to change the clinical culture that supports genomics
PDF file
Lisa Bastarache

In search of lost variants: How EHR integration can improve genetic medicine
PDF file
Kevin Johnson

Genome-friendly Connected Care
PDF file
Guilherme Del Fiol

Clinical decision support for genomics: Clinical workflows and interoperability Standards
PDF file
Chunhua Weng

Realizing the Value of Genomic Decision Support in Healthcare Systems: Opportunities, Challenges, and Strategies for Success
PDF file
Mark Hoffman

We built it but will they come?
PDF file
Teresa Zayas Cabán

Advancing Health IT to Support Genomic Medicine and Research
PDF file
Subha Madhavan

Genomics-based clinical informatics resources to support Precision Oncology & Evidence
PDF file
Nephi Walton

Integration of Genomic Data into the Electronic Health Record: Current State and Future Directions
PDF file
Marylyn Ritchie

Making use of our genome for life: strategic opportunities and challenges
PDF file
Samuel Aronson

Realizing the Dream of a Genomic Information Exchange: Barriers that Must be Overcome
PDF file
Kensaku Kawamoto

FHIR-Based Interoperability to Accelerate Genomic Medicine Research and Practice
PDF file
Marc Williams and Ken Wiley

GMXIII Summary Slides

Day 1: February 9

All times Eastern.

  • 12:00 - 12:10 p.m. - Welcome and Introductions
    Co-Chairs: Ken L. Wiley Jr., Ph.D. and Marc S. Williams, M.D.
  • 12-10 - 12:30 p.m. - 2020 NHGRI Strategic Vision
    Eric D. Green, M.D., Ph.D.
  • Session 1: Making the case for a clinical genomic informatics research strategy
    Co-Moderators: Rex L. Chisholm, Ph.D. and Lucila Ohno-Machado, M.D., M.B.A., Ph.D.
  • 12:30 - 1:45 p.m. 
     
    • Survey Review
      Marc S. Williams, M.D.
       
    • Technical desiderata for gCDS: A Reflection on Implementation
      Presenter: Casey Overby Taylor, Ph.D.
       
    • Inherent Racism Induces Bias in Algorithm Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different?
      Presenter: Janina M. Jeff, Ph.D.
       
    • Discussion
  • 1:45 - 1:55 p.m. - Break
  • Session 2: Need for research in advanced technologies (AT) to support Genomic Medicine
    Co-Moderators: Carol J. Bult, Ph.D. and James J. Cimino, M.D.
  • 1:55 - 3:10 p.m. 
     
    • Intelligence Augmentation At Its Finest: How to use genomic based clinical informatics to change the clinical culture that supports genomics.
      Gil Alterovitz, Ph.D.
       
    • In search of lost variants: How EHR integration can improve genetic medicine
      Presenter: Lisa A. Bastarache, M.S.
       
    • Genome-friendly Connected Care
      Presenter: Kevin B. Johnson, M.D., M.S.
       
    • Discussion
  • 3:10 - 3:40 p.m. - Break
  • Session 3: Researching the stakeholder perspective: Enablers and Barriers that affect the integration of genomic-based clinical informatics resources in the health care system
    Co-Moderators: Patricia A. Deverka, M.D., M.S. and Siddharth Pratap, Ph.D., M.S.
  • 3:40 - 4:55 p.m. 
     
    • Clinical decision support for genomics:  Clinical workflows and interoperability Standards
      Presenter: Guilherme Del Fiol, M.D., Ph.D.
       
    • Defining And Measuring The Value Of Genomic Based Clinical Informatics Support
      Presenter: Eneida A. Mendoca, M.D., Ph.D.
       
    • Realizing the Value of Genomic Decision Support in Healthcare Systems: Opportunities, Challenges, and Strategies for Success
      Presenter: Chunhua Weng, Ph.D.
       
    • We built it but will they come?
      Presenter: Mark A. Hoffman, Ph.D.
       
    • Discussion
  • 4:55 - 5:05 p.m. - Summary of Day 1 and Adjourn

Day 2: February 10

  • 12:00 - 12:10 p.m. - Welcome and Introductions
    Ken L. Wiley Jr., Ph.D. and Marc S. Williams, M.D.
  • Session 4: Defining a research agenda that addresses the process for developing Genomic-Based Clinical Informatics resources
    Co-Moderators: Erin L. Crowgey, Ph.D. and Dan M. Roden, M.D.
  • 12:10 - 1:25 p.m. 
     
    • Advancing health IT to support genomic medicine and research
      Presenter: Teresa Zayas Cabán, Ph.D.
       
    • Genomics-based clinical informatics resources to support Precision Oncology & Evidence
      Presenter: Subha Madhavan, Ph.D.
       
    • Integration of Genomic Data into the Electronic Health Record: Current State and Future Directions
      Presenter: Nephi A. Walton, M.D., M.S.
       
    • Discussion
  • 1:25 - 1:35 p.m. - Break
  • Session 5: Genomics in a Fragmented Healthcare Environment
    Co-Moderators: Robert R. Freimuth, Ph.D. and Geoff S. Ginsburg, M.D., Ph.D.
  • 1:35 - 2:50 p.m. 
     
    • Making use of our genome for life: strategic opportunities and challenges
      Presenter: Marylyn D. Ritchie, Ph.D.
       
    • Realizing the Dream of a Genomic Information Exchange:  Barriers that Must be Overcome
      Presenter: Samuel J. Aronson, M.S.
       
    • FHIR-Based Interoperability to Accelerate Genomic Medicine Research and Practice: Opportunities and Challenges
      Kensaku Kawamoto, M.D., Ph.D., MHS, FACMI, FAMIA
       
    • Discussion
  • 2:50 - 3:50 p.m. - Break
  • Session 6: A Genomic-based Informatics Research Strategy
    Co-Moderators: Ken L. Wiley, Jr., Ph.D. and Marc S. Williams, M.D.
  • 3:50 - 4:50 p.m. 
     
    • Envisioning The Forefront Of A Genomic Based Clinical Informatics System
       
    • Envisioning The Ideal Relationship Between Clinicians, Patients, & Machine To Improve Care
       
    • Methodologies For Genomic-Based Informatics Research
       
    • Summary and Next Steps
  • 4:50 - 5:00 p.m. - Closing Remarks and Adjourn

 

Last updated: May 31, 2022