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Appendix A
Workshop Agenda
Integrating Large-Scale Genomic Information into Clinical Practice
July 19, 2011
The Keck Center of the National Academies
500 Fifth Street, N.W.
Washington, DC 20001
MEETING OBJECTIVE
To highlight and identify the challenges and opportunities in integrating
large-scale genomic information into clinical practice.
Workshop Assumptions:
• Sequencing technology will advance enough to produce clinically
meaningful results.
• Whole-genome sequencing (WGS) will be cost-effective and com-
parable to other diagnostic tests.
WELCOMING REMARKS
8:30–8:35 A.M.
Wylie Burke, Roundtable Chair
Professor and Chair, Department of Bioethics and
Humanities, University of Washington
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70 INTEGRATING LARGE-SCALE GENOMIC INFORMATION
CHARGE TO WORKSHOP SPEAKERS AND
8:35–8:45 A.M.
PARTICIPANTS
Bruce Blumberg, Workshop Cochair
Institutional Director of Graduate Medical
Education, Northern California Kaiser
Permanente, The Permanente Medical Group
Catherine A. Wicklund, Workshop Cochair
Past President, National Society of Genetic
Counselors; Director, Graduate Program
in Genetic Counseling; Associate Professor,
Department of Obstetrics and Gynecology,
Northwestern University
KEYNOTE ADDRESS: THE REALIZATION OF
8:45–9:15 A.M.
GENOMIC MEDICINE
Leslie G. Biesecker
Chief and Senior Investigator, Genetic Disease
Research Branch, National Human Genome
Research Institute
WORKFORCE
9:15–9:45 A.M.
Session Moderator: Michael S. Watson, American
College of Medical Genetics
Requisite Knowledge and Skill Sets for Large-Scale
9:15–9:45 A.M.
Genomic Data Utilization
Bruce R. Korf
Wayne H. and Sara Crews Finley Chair in Medical
Genetics; Professor and Chair, Department of
Genetics; Director, Heflin Center for Genomic
Sciences, University of Alabama at Birmingham
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71
APPENDIX A
ANALYSIS
9:45–11:50 A.M
Session Moderator: Debra G. Leonard, Weill Cornell
Medical Center
9:45–10:25 A.M. Defining Actionable Novel Discoveries, Annotating
Genomes, and Re-analysis—A Laboratory Perspective
Federico A. Monzon
Associate Professor of Pathology, Weill Cornell
Medical College/The Methodist Hospital; Director,
Research Pathology and Molecular Diagnostics
Cores, The Methodist Hospital Research Institute
Madhuri Hegde
Associate Professor, Department of Human
Genetics; Scientific Director, Emory Genetics
Laboratory, Emory University School of Medicine
10:25–11:05 A.M. Defining Actionable Novel Discoveries, Annotating
Genomes, and Re-analysis—A Clinical Perspective
Heidi L. Rehm
Assistant Professor of Pathology, Brigham and
Women’s Hospital and Harvard Medical School;
Chief Laboratory Director, Laboratory for
Molecular Medicine, Partners HealthCare Center
for Personalized Genetic Medicine
Michael F. Christman
President and Chief Executive Officer, Coriell
Institute for Medical Research
11:05–11:50 A.M. Discussion with Speakers and Attendees
WORKING LUNCH BREAK
11:50 A.M.
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72 INTEGRATING LARGE-SCALE GENOMIC INFORMATION
INTERPRETATION
12:05–2:15 P.M.
Session Moderator: Muin Khoury, Centers for Disease
Control and Prevention
Interpretation Models and Context
12:05–1:20 P.M.
Medical Practice
Robert L. Nussbaum
Holly Smith Chair and Professor of Medicine;
Chief, Division of Medical Genetics; Member,
Institute of Human Genetics; Professor of
Neurology, University of California, San Francisco
School of Medicine
Pathology
Mark S. Boguski
Associate Professor, Center for Biomedical
Informatics, Harvard Medical School
Bioinformatics
Nicholas J. Schork
Director of Bioinformatics and Biostatistics;
Professor, Molecular and Experimental Medicine,
The Scripps Translational Science Institute
Discussion with Speakers and Attendees
1:20–2:15 P.M.
DELIVERY OF INFORMATION
2:15–3:40 P.M.
Session Moderator: W. Gregory Feero, National
Human Genome Research Institute
Innovative Mechanisms for Delivery
2:15–2:55 P.M.
Integral Delivery Systems and Active Monitoring of Data
Mary V. Relling
Chair, Department of Pharmaceutical Sciences,
St. Jude Children’s Research Hospital
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73
APPENDIX A
Granting Access to Personal Health Information
Robert H. Shelton
Founder and Chief Executive Officer, Private
Access, Inc.
Discussion with Speakers and Attendees
2:55–3:40 P.M.
BREAK
3:40 P.M.
ETHICAL AND LEGAL ISSUES
3:55–4:25 P.M
Session Moderator: Martha Turner, American Nurses
Association
Ethical and Legal Implications for Integrating Large-
Scale Genomic Data into Clinical Practice
Henry T. Greely
Deane F. and Kate Edelman Johnson Professor of
Law; Professor, by courtesy, of Genetics; Director,
Center for Law and the Biosciences, Stanford
University
PANEL DISCUSSION: ENVISIONING THE FUTURE
4:25–5:55 P.M
Session Moderators: Bruce Blumberg, Northern
California Kaiser Permanente
Catherine A. Wicklund, National Society of Genetic
Counselors
Panelists:
Mark S. Boguski, Harvard Medical School
Michael F. Christman, Coriell Institute for Medical
Research
Henry T. Greely, Stanford University
Madhuri Hegde, Emory University
Bruce R. Korf, University of Alabama at Birmingham
Federico A. Monzon, Weill Cornell Medical College/
The Methodist Hospital
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74 INTEGRATING LARGE-SCALE GENOMIC INFORMATION
Robert L. Nussbaum, University of California,
San Francisco School of Medicine
Heidi L. Rehm, Harvard Medical School
Nicholas J. Schork, The Scripps Translational Science
Institute
Robert H. Shelton, Private Access, Inc.
CONCLUDING REMARKS
5:55–6:10 P.M.
Bruce Blumberg, Workshop Cochair
Northern California Kaiser Permanente
Catherine A. Wicklund, Workshop Cochair
National Society of Genetic Counselors
ADJOURN
6:10 P.M.
