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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.

 

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Presentations

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Marc Williams

GMXIII: Developing a Clinical Genomic Informatics Research Agenda Survey Results

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Casey Overby Taylor

Technical Desiderata for gCDS: A Reflection on Implementation in eMERGE III

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Janina Jeff

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

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Gil Alterovitz

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

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Lisa Bastarache

In search of lost variants: How EHR integration can improve genetic medicine

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Kevin Johnson

Genome-friendly Connected Care

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Guilherme Del Fiol

Clinical decision support for genomics: Clinical workflows and interoperability Standards

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Chunhua Weng

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

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Mark Hoffman

We built it but will they come?

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Teresa Zayas Cabán

Advancing Health IT to Support Genomic Medicine and Research

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Subha Madhavan

Genomics-based clinical informatics resources to support Precision Oncology & Evidence

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Nephi Walton

Integration of Genomic Data into the Electronic Health Record: Current State and Future Directions

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Marylyn Ritchie

Making use of our genome for life: strategic opportunities and challenges

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Samuel Aronson

Realizing the Dream of a Genomic Information Exchange: Barriers that Must be Overcome

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Kensaku Kawamoto

FHIR-Based Interoperability to Accelerate Genomic Medicine Research and Practice

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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: February 22, 2021