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NIH

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

 

Last Updated: March 1, 2017