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 comparable to other diagnostic tests.

 
8:30–8:35 A.M. WELCOMING REMARKS
 
 

Wylie Burke, Roundtable Chair

Professor and Chair, Department of Bioethics and Humanities, University of Washington



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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 69

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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.