Day 1

July 17, 2012

7:45 A.M.-8:30 A.M.

WORKING BREAKFAST

8:30 A.M.-8:35 A.M.

WELCOMING REMARKS

Wylie Burke, Roundtable Co-Chair, Meeting Moderator

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

8:35 A.M.-8:40 A.M.

CHARGE TO WORKSHOP SPEAKERS AND PARTICIPANTS

W. Gregory Feero, Workshop Chair

Special Advisor to the Director, National Human Genome Research Institute

8:40 A.M.-10:10 A.M.

SESSION I: ECONOMICS AND GENOMICS

Moderators: W. Gregory Feero, National Human Genome Research Institute

Wylie Burke, University of Washington

8:40 A.M.-9:10 A.M.

Genomics, Population Health, and Technology

James P. Evans

Bryson Distinguished Professor of Genetics and Medicine, University of North Carolina at Chapel Hill

9:10 A.M.-9:25 A.M.

Discussion

9:25 A.M.-9:55 A.M.

Intersection of Genomics and Health Economics

David L. Veenstra

Professor, Pharmaceutical Outcomes Research and Policy Program, University of Washington

9:55 A.M.-10:10 A.M.

Discussion

10:10 A.M.-10:25 A.M.

BREAK

10:25 A.M.-12:20 P.M.

SESSION II: PRECONCEPTION CARE AND SEQUENCING

Moderators: Robert L. Nussbaum, University of California, San Francisco, School of Medicine

Wylie Burke, University of Washington

10:25 A.M.-10:30 A.M.

Case Presentation: In 2012 a 35-year-old healthy Ashkenazi Jewish female smoker is seen for a preconception visit. Under the current standard care model, targeted carrier status testing is offered. In terms of high effect size variations that would be detected by traditional genetic testing, she is found to be a carrier for Tay-Sachs. In addition, if testing were extended in this scenario beyond what might be considered to be current standard of care, she would be found to harbor a prothrombin gene mutation, as well as variations in CYP2C9 and VKORC, indicating that she is likely to be highly sensitive to warfarin anticoagulation. She is also homozygous for APOE4, but does not have familial hypercholesterolemia. She can be expected to have lower risk variants and variants of unknown significance in accordance with expected population frequencies for the conditions under consideration.

10:30 A.M.-11:00 A.M.

Stakeholder Presentations (10 minutes each)

Clinician:

Siobhan M. Dolan

Associate Professor of Clinical Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine

Futurist:

Arthur L. Beaudet

Henry and Emma Meyer Professor and Chair, Department of Molecular and Human Genetics, Baylor College of Medicine

Patient:

Michelle Gilats

Genetic Counselor, Chicago Center for Jewish Genetics

11:00 A.M.-11:20 A.M.

Discussion with Speakers and Participants

11:20 A.M.-12:20 P.M.

Economics Panel Discussion

Moderator: David L. Veenstra, University of Washington

Panelists:

Paul R. Billings

Chief Medical Officer, Life Technologies

Scott Grosse

Research Economist and Associate Director for Health Services Research and Evaluation, Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention

Scott Ramsey

Full Member, Cancer Prevention Program, Division of Public Health Science, Fred Hutchinson Cancer Research Center

12:20 P.M.-1:05 P.M.

LUNCH

1:05 P.M.-3:00 P.M.

SESSION III: UNPROVOKED DVT/ PULMONARY EMBOLISM

Moderators: Frederick Chen, University of Washington

Wylie Burke, University of Washington

1:05 P.M.-1:10 P.M.

Case Presentation: The individual is seen at 40 years of age with progressive left lower extremity swelling and pain. Evaluation reveals an unprovoked deep vein thrombosis in her left lower extremity. She will be treated as an outpatient with low-molecular-weight heparin and warfarin. Targeted testing includes CYP2C9 and VKORC gene analysis.

1:10 P.M.-1:40 P.M.

Stakeholder Presentations (10 minutes each)

Clinician:

Michael F. Murray

Clinical Chief, Genetics Division, Department of Medicine, Brigham and Women’s Hospital

Futurist:

Euan A. Ashley

Director, Center for Inherited Cardiovascular Disease, Stanford University School of Medicine

Patient:

John West

Chief Executive Officer, Personalis, Inc.

1:40 P.M.-2:00 P.M.

Discussion with Speakers and Participants

2:00 P.M.-3:00 P.M.

Economics Panel Discussion

Moderator: David L. Veenstra, University of Washington

Panelists:

Paul R. Billings

Chief Medical Officer, Life Technologies

Scott Grosse

Research Economist and Associate Director for Health Services Research and Evaluation, Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention

Scott Ramsey

Full Member, Cancer Prevention Program, Division of Public Health Science, Fred Hutchinson Cancer Research Center

3:00 P.M.-3:15 P.M.

BREAK

3:15 P.M.-5:10 P.M.

SESSION IV: CANCER CARE AND SEQUENCING

Moderators: Timothy J. Ley, Washington University School of Medicine

Wylie Burke, University of Washington

3:15 P.M.-3:20 P.M.

Case Presentation: The individual is seen at age 50 with cough, dyspnea, and chest discomfort. Evaluation reveals a lung mass; bronchoscopy and biopsy reveal a non-small-cell lung cancer. Her tumor is found to have variations that allow the use of targeted therapy, and with treatment the patient goes into remission.

3:20 P.M.-3:50 P.M.

Stakeholder Presentations (10 minutes each)

Clinician:

Kenneth Offit

Chief, Clinical Genetics Service, Department of Human Genetics, Memorial Sloan-Kettering Cancer Center

Futurist:

Stephen Eck

Vice President, Global Head of Medical Oncology, Astellas Pharma Global Development

Patient:

Richard Heimler

Lung Cancer Survivor and Advocate

3:50 P.M.-4:10 P.M.

Discussion with Speakers and Participants

4:10 P.M.-5:10 P.M.

Economics Panel Discussion

Moderator: David L. Veenstra, University of Washington

Panelists:

Paul R. Billings

Chief Medical Officer, Life Technologies

Scott Grosse

Research Economist and Associate Director for Health Services Research and Evaluation, Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention

Scott Ramsey

Full Member, Cancer Prevention Program, Division of Public Health Science, Fred Hutchinson Cancer Research Center

5:10 P.M.-5:20 P.M.

WRAP-UP DAY 1

W. Gregory Feero, Workshop Chair

Special Advisor to the Director, National Human Genome Research Institute

5:20 P.M.

ADJOURN DAY 1

Day 2

July 18, 2012

7:45 A.M.-8:30 A.M.

WORKING BREAKFAST

8:30 A.M.-8:35 A.M.

WELCOMING REMARKS

W. Gregory Feero, Workshop Chair

Special Advisor to the Director, National Human Genome Research Institute

8:35 A.M.-11:45 A.M.

Session V: Research Economics

8:35 A.M.-9:00 A.M.

Overview of Major Themes and Research Questions from Day 1

W. Gregory Feero, Workshop Chair

Special Advisor to the Director, National Human Genome Research Institute

9:00 A.M.-10:00 A.M.

Stakeholder Perspectives on Research Questions

Moderator: Wylie Burke, University of Washington

Clinician:

James P. Evans

Bryson Distinguished Professor of Genetics and Medicine, University of North Carolina at Chapel Hill

Researcher:

Katrina Armstrong

Professor of Medicine; Associate Director, Abramson Cancer Center; Division Chief, Division of General Internal Medicine, Department of Medicine, University of Pennsylvania School of Medicine

Industry:

Thomas J. White

Chief Scientific Officer (Retired), Celera Corporation; Regents’ Lecturer, University of California, Berkeley

Patient:

Mary Lou Smith

Cofounder, Research Advocacy Network

Public Health:

Ned Calonge

President and Chief Executive Officer, The Colorado Trust

Hospital System:

Herbert Pardes

Professor of Psychiatry and Former Chief Executive Officer, New York-Presbyterian Hospital

10:00 A.M.-10:30 A.M.

Audience Perspectives

10:30 A.M.-10:45 A.M.

BREAK

10:45 A.M.-11:45 A.M.

Economics Panel Discussion

Moderator: David L. Veenstra, University of Washington

Panelists:

Paul R. Billings

Chief Medical Officer, Life Technologies

Scott Grosse

Research Economist and Associate Director for Health Services Research and Evaluation, Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention

Scott Ramsey

Full Member, Cancer Prevention Program, Division of Public Health Science, Fred Hutchinson Cancer Research Center

11:45 A.M.-12:00 P.M.

SESSION VI: WRAP-UP

11:45 A.M.-12:00 P.M.

Concluding Remarks

W. Gregory Feero, Workshop Chair

Special Advisor to the Director, National Human Genome Research Institute

12:00 P.M.

WORKSHOP ADJOURNS