Last updated: March 01, 2017
Characterizing and Displaying Genetic Variants for Clinical Action Workshop
Characterizing and Displaying Genetic Variants for Clinical Action Workshop
December 1-2, 2011
Marriott Washingtonian Center I
Gaithersburg, Md.
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 
See the workshop recommendations
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
| Marc Williams, M.D., F.A.A.P., F.A.C.M.G. Intermountain Healthcare |
| 2 | Welcome and Meeting Overview
| Eric D. Green, M.D., Ph.D. NHGRI |
| 3 | Towards Genome Medicine: UK Perspective
| Timothy Hubbard, Ph.D. Wellcome Trust Sanger Institute |
| 4 | Personalized Genomics Informed Medicine
| Rex Chisholm, Ph.D. Northwestern University |
| 5 | Researcher Perspective
| Leslie G. Biesecker, M.D. NHGRI |
| 6 | Clinical Lab Director Perspective
| Elaine Lyon, Ph.D. University of Utah School of Medicine ARUP Laboratories |
| 7 | Clinician Perspective
| Howard P. Levy, M.D., Ph.D. Johns Hopkins University |
| 8 | Database Integration
| Paul Flicek, D.Sc. European Bioinformatics Institute |
| 9 | Moderated Discussions
| Matthew Hurles, Ph.D. Wellcome Trust Sanger Institute |
| 10 | New Resource: NCBI's ClinVar
| Donna Maglott, Ph.D. National Center for Biotechnology Information |
| 11 | Coriell Personalized Medicine Collaborative (CPMC) ®
| 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)
| Gail Jarvik, M.D., Ph.D. University of Washington |
| 13 | Evolution of Genomic Applications in Practice and Prevention (EGAPP)
| Ned Calonge, M.P.H. The Colorado Trust |
| 14 | Clinical Pharmacogenetics Implementation Consortium of the PGRN
| Howard McLeod, Pharm.D. University of North Carolina at Chapel Hill |
| 15 | Agency for Healthcare Research Quality's Perspective on Clinical Utility of Genomics
| Gurvaneet Randhawa, M.D. Agency for Healthcare Research Quality |
| 16 | Moderated Discussion
| Moderator: David Ledbetter, Ph.D. Geisinger Health System |
| 17 | Categorizing Variants after Whole Genome Sequencing
| Jonathan Berg, M.D., Ph.D. University of North Carolina at Chapel Hill |
| 18 | Contrasting Clinician and Patient Perspectives on Variant Disclosure
| 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
| Marc Williams, M.D., F.A.A.P., F.A.C.M.G. Intermountain Healthcare |
| 20 | Moderated Discussion
| Marc Williams, M.D., F.A.A.P., F.A.C.M.G. Intermountain Healthcare |
Friday, December 2, 2011
| 21 | Day 1 Recap
| Rex Chisholm, Ph.D. Northwestern University |
| 22 | Open-Source Clinical Decision Models
| Kensaku Kawamoto, M.D., Ph.D. University of Utah |
| 23 | Genome Enabled Electronic Medical Record (GenE EMR)
| William Knaus, M.D. University of Virginia |
| 24 | Outcomes Data from Clinical Applications: Bioresources Linked to e-health Records in Scotland
| Helen Colhoun, M.D. University of Dundee |
| 25 | Using Payer Data to Analyze Impact of Pharmacogenomic Approaches
| Robert Epstein, M.D. Medco Health Solutions, Inc. |
| 26 | Moderated Discussion
| Moderator: Timothy Hubbard, Ph.D. Wellcome Trust Sanger Institute |
| 27 | Clinical Implementation of Psychiatric Pharmacogenomics
| David Mrazek, Ph.D., F.R.C.Psych. Mayo Clinic |
| 28 | Clinical Implementations of Cancer Susceptibility Genes
| Nazneen Rahman, M.D., Ph.D. Institute of Cancer Research |
| 29 | Payer Decisions Regarding Reimbursement
| Naomi Aronson, Ph.D. Blue Cross Blue Shield Association |
| 30 | Integrated Systems Perspective
| Bruce Blumberg, M.D. Kaiser Permanente Northern California |
| 31 | Centers for Medicare and Medicaid Services (CMS)
| Jeff Roche, M.D. Centers for Medicare and Medicaid Services (CMS) |
| 32 | Moderated Discussion
| Moderator: Catherine Wicklund, M.S. Northwestern University |
| 33 | Moderated Discussion: Summary and Next Steps
| Rex Chisholm, Ph.D. Northwestern University Marc Williams, M.D., F.A.A.P., F.A.C.M.G. Intermountain Healthcare |