ClinAction Agenda, PowerPoints and Videos

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Characterizing and Displaying Genetic Variants for Clinical Action Workshop

December 1-2, 2011
Marriott Washingtonian Center I
Gaithersburg, Md.

Blue and white stick figure labeled genetic variants aiming a bow and arrow at clinical action database On Dec. 1-2, 2011, the National Human Genome Research Institute (NHGRI), organized a workshop — Characterizing and Displaying Genetic Variants for Clinical Action Workshop — at the Marriott Washingtonian Center I, Gaithersburg, Md. The goal of the workshop was to consider the processes and resources needed to identify clinically relevant genetic variants; to decide whether they are actionable and what the action should be; and to provide this information for clinical use.

Moderated discussions in the workshop addressed topics such as:
  • Perspectives on Existing Genetic Variation Resources
  • Current Approaches for Identifying Genetic Variants for Clinical Use
  • Developing Consensus for Binning Variants for Clinical Use
  • Creating a Translation Loop for Genomic Medicine
  • Translating Actionable Variants into Evidence-Based Practice
  • See the workshop participants PDF file
    See the workshop recommendations PDF file
    Available in the table below are videos and accompanying slides from the workshop.
    Also available as a video playlist on GenomeTV

    Thursday, December 1, 2011

    1 Opening Remarks
    YouTube video Video | Slides not available
    Marc Williams, M.D., F.A.A.P., F.A.C.M.G.
    Intermountain Healthcare
    2 Welcome and Meeting Overview
    YouTube video Video | Slides PDF file
    Eric D. Green, M.D., Ph.D.
    NHGRI
    3 Towards Genome Medicine: UK Perspective
    YouTube video Video | Slides PDF file
    Timothy Hubbard, Ph.D.
    Wellcome Trust Sanger Institute
    4 Personalized Genomics Informed Medicine
    YouTube video Video | Slides PDF file
    Rex Chisholm, Ph.D.
    Northwestern University
    5 Researcher Perspective
    YouTube video Video | Slides PDF file
    Leslie G. Biesecker, M.D.
    NHGRI
    6 Clinical Lab Director Perspective
    YouTube video Video | Slides PDF file
    Elaine Lyon, Ph.D.
    University of Utah School of Medicine
    ARUP Laboratories
    7 Clinician Perspective
    YouTube video Video | Slides PDF file
    Howard P. Levy, M.D., Ph.D.
    Johns Hopkins University
    8 Database Integration
    YouTube video Video | Slides PDF file
    Paul Flicek, D.Sc.
    European Bioinformatics Institute
    9 Moderated Discussions
    YouTube video Video | Slides PDF file
    Matthew Hurles, Ph.D.
    Wellcome Trust Sanger Institute
    10 New Resource: NCBI's ClinVar
    YouTube video Video | Slides not available
    Donna Maglott, Ph.D.
    National Center for Biotechnology Information
    11 Coriell Personalized Medicine Collaborative (CPMC) ®
    YouTube video Video | Slides PDF file
    Michael Christman, Ph.D.
    Coriell Institute for Medical Research

    Presenter: Erynn Gordon, M.S., C.G.C.
    Coriell Institute for Medical Research
    12 The electronic Medical Records & Genomics Network (eMERGE)
    YouTube video Video | Slides PDF file
    Gail Jarvik, M.D., Ph.D.
    University of Washington
    13 Evolution of Genomic Applications in Practice and Prevention (EGAPP)
    YouTube video Video | Slides PDF file
    Ned Calonge, M.P.H.
    The Colorado Trust
    14 Clinical Pharmacogenetics Implementation Consortium of the PGRN
    YouTube video Video | Slides PDF file
    Howard McLeod, Pharm.D.
    University of North Carolina at Chapel Hill
    15 Agency for Healthcare Research Quality's Perspective on Clinical Utility of Genomics
    YouTube video Video | Slides PDF file
    Gurvaneet Randhawa, M.D.
    Agency for Healthcare Research Quality
    16 Moderated Discussion
    YouTube video Video | Slides not available
    Moderator: David Ledbetter, Ph.D.
    Geisinger Health System
    17 Categorizing Variants after Whole Genome Sequencing
    YouTube video Video | Slides PDF file
    Jonathan Berg, M.D., Ph.D.
    University of North Carolina at Chapel Hill
    18 Contrasting Clinician and Patient Perspectives on Variant Disclosure
    YouTube video Video | Slides PDF file
    Robert Green, M.D., M.P.H.
    University of North Carolina at Chapel Hill
    19 Review of Pre-workshop Inquiry and Conceptual Frameworks for Categorizing Variants
    YouTube video Video | Slides PDF file
    Marc Williams, M.D., F.A.A.P., F.A.C.M.G.
    Intermountain Healthcare
    20 Moderated Discussion
    YouTube video Video | Slides not available
    Marc Williams, M.D., F.A.A.P., F.A.C.M.G.
    Intermountain Healthcare


    Friday, December 2, 2011

    21 Day 1 Recap
    YouTube video Video | Slides PDF file
    Rex Chisholm, Ph.D.
    Northwestern University
    22 Open-Source Clinical Decision Models
    YouTube video Video | Slides PDF file
    Kensaku Kawamoto, M.D., Ph.D.
    University of Utah
    23 Genome Enabled Electronic Medical Record (GenE EMR)
    YouTube video Video | Slides PDF file
    William Knaus, M.D.
    University of Virginia
    24 Outcomes Data from Clinical Applications:
    Bioresources Linked to e-health Records in Scotland
    YouTube video Video | Slides PDF file
    Helen Colhoun, M.D.
    University of Dundee
    25 Using Payer Data to Analyze Impact of Pharmacogenomic Approaches
    YouTube video Video | Slides PDF file
    Robert Epstein, M.D.
    Medco Health Solutions, Inc.
    26 Moderated Discussion
    YouTube video Video | Slides not available
    Moderator: Timothy Hubbard, Ph.D.
    Wellcome Trust Sanger Institute
    27 Clinical Implementation of Psychiatric Pharmacogenomics
    YouTube video Video | Slides PDF file
    David Mrazek, Ph.D., F.R.C.Psych.
    Mayo Clinic
    28 Clinical Implementations of Cancer Susceptibility Genes
    YouTube video Video | Slides PDF file
    Nazneen Rahman, M.D., Ph.D.
    Institute of Cancer Research
    29 Payer Decisions Regarding Reimbursement
    YouTube video Video | Slides PDF file
    Naomi Aronson, Ph.D.
    Blue Cross Blue Shield Association
    30 Integrated Systems Perspective
    YouTube video Video | Slides PDF file
    Bruce Blumberg, M.D.
    Kaiser Permanente Northern California
    31 Centers for Medicare and Medicaid Services (CMS)
    YouTube video Video | Slides PDF file
    Jeff Roche, M.D.
    Centers for Medicare and Medicaid Services (CMS)
    32 Moderated Discussion
    YouTube video Video | Slides not available
    Moderator: Catherine Wicklund, M.S.
    Northwestern University
    33 Moderated Discussion: Summary and Next Steps
    YouTube video Video | Slides not available
    Rex Chisholm, Ph.D.
    Northwestern University

    Marc Williams, M.D., F.A.A.P., F.A.C.M.G.

    Intermountain Healthcare

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    Last Updated: November 9, 2012