Access to Quality Testing for Rare Diseases: A National Conference September 26-27, 2005, Rockville, Maryland
Overview Who Should Attend Agenda Registration Hotel Information Transportation and Local Information Organizers and Sponsors Steering Committee Home
Preliminary Agenda

    Monday, September 26
    7:00 a.m. Registration and Continental Breakfast
    8:00 a.m. Opening Remarks and Overview of May 2004 Meeting, Ongoing Activities, and Outcomes
    Stephen C. Groft, PharmD, Office of Rare Diseases (ORD), National Institutes of Health (NIH)
    D. Joe Boone, PhD, Centers for Disease Control and Prevention (CDC)
    8:25 a.m. Project DOCC: Genetics
    Presented by: Project DOCC (Delivery of Chronic Care) Genetics Panel
    Donna Appell, RN, Hermansky-Pudlak Syndrom Network, Inc.
    Jannine Cody, PhD, Chromosome 18 Registry and Research Society
    Rebecca L. Fisher, BA, MLIS, Patient/Advocate
    Elizabeth M. Terry, PXE International
    9:15 a.m. Plenary Session
    Moderators:
    D. Joe Boone, PhD, CDC
    Stephen C. Groft, PharmD, ORD, NIH

    Vision for Improving Genetic Testing for Rare Diseases
    (9:15 a.m. – 9:30 a.m.)
    Sharon F. Terry, MA, Genetic Alliance

    Infrastructure and Process to Enhance Genetic Testing for Rare Diseases
    (9:30 a.m. – 9:55 a.m.)
    D. Joe Boone, PhD, CDC
    9:55 a.m. Break
    10:25 a.m. Plenary Session (continued)

    Model Approaches to Advancing the Development and Delivery of Quality Rare Disease Tests
    (10:25 a.m. – 10:50 a.m.)
    Andy Faucett, MS, CGC, Emory University School of Medicine and CDC

    Quality Assurance Framework for Rare Disease Testing
    (10:50 a.m. – 11:15 a.m.)
    Carol Greene, MD, University of Maryland School of Medicine

    Payment and Reimbursement Issues Associated with Implementation and Delivery of Genetic Tests for Rare Diseases
    (11:15 a.m. – 11:40 a.m.)
    Rick J. Carlson, JD, University of Washington

    Educational Efforts to Assure and Promote Quality in Patient Testing and Test Translation Process
    (11:40 a.m. – 12:00 noon)
    Joann Boughman, PhD, American Society of Human Genetics
    12:00 noon Working Lunch and Keynote Speech — Open Sesame: Together = Access
    Nancy S. Wexler, PhD, Columbia University
    Introduced by Sharon F. Terry, MA Genetic Alliance
    1:45 p.m. Break
    2:00 p.m. Concurrent Breakout Discussions

    Infrastructure Issues
    Part 1: Process(es), Roles and Responsibilities, Access, Evaluation, and Coordination
    (2:00 p.m. – 3:45 p.m.)
    Moderator:
    R. Rodney Howell, MD, University of Miami School of Medicine

    Panelists:
    Michael S. Watson, PhD, American College of Medical Genetics
    Micki Gartzke, Hunter's Hope Foundation
    Daniel Kastner, MD, PhD, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH
    Vivianna M. Van Deerlin, MD, PhD, University of Pennsylvania Health System

    Part 2: Payment, Reimbursement, and Cost Issues Associated with Implementation and Delivery of Genetic Tests for Rare Diseases
    (4:15 p.m. – 6:00 p.m.)
    Moderators:
    Michele A. Lloyd-Puryear, MD, PhD, Health Resources and Services Administration
    Rick Carlson, JD, University of Washington

    Panelists:
    Paul Billings, MD, PhD, FACP, FACMG, Laboratory Corporation of America (LabCorp)
    Frank Papatheofanis, MD, MPH, PhD, university of California at San Diego
    Marc S. Williams, MD, IHC Clinical Genetics Institute
    Robert E. Wanerman, Health Care and Life Sciences Practice

    Models Approaches and Networks
    Current Models for Test Translation, Potential Additional Models, Operational Issues, Obstacles, Incentives, and Steps for Moving Forward
    (2:00 p.m. – 6:00 p.m.)
    Moderator:
    Roberta A. Pagon, MD, University of Washington

    Panelists:
    Sherri Bale, PhD, GeneDx, Inc.
    Soma Das, PhD, University of Chicago
    Andy Faucett, MS, CGC, Emory University School of Medicine and CDC
    David H. Ledbetter, PhD, Emory University School of Medicine
    Quality Assurance Framework
    Part 1: QA/QC Strategic Planning for Rare Disease Genetic Testing
    (2:00 p.m. – 3:45 p.m.)
    Moderators:
    Sue Richards, PhD, FACMG, Oregon Health & Sciences University
    Carol Greene, MD, University of Maryland School of Medicine

    Part 2: International Test Flow and External Quality Assessment Issues
    (4:15 p.m. – 6:00 p.m.)
    Moderators:
    Ira M. Lubin, PhD, CDC
    Carol Greene, MD, University of Maryland School of Medicine

    Discussants:
    Miriam G. Blitzer, PhD, FACMG, University of Maryland School of Medicine
    Michele Caggana, ScD, FACMG, New York State Department of Health
    Patricia Charache, MD, Johns Hopkins Medical Institute
    Tina M. Cowan, PhD, Stanford University Medical Center
    Cecelia S. Hinkel, Centers for Medicare & Medicaid Services
    Keith Hyland, PhD, Horizon Molecular Medicine
    John Mann, MD, FAAP, FACMG, Genetic Services Consulting, Inc.
    Joanne Mei, PhD, CDC
    David S. Rosenblatt, MDCM, McGill University
    John M. Shoffner, MD, Horizon Molecular Medicine
    Elaine Spector, PhD, FACMG, University of Colorado Health Science Center
    Chunli Yu, MD, Emory University
    Nanbert Zhong, MD, New York State Institute for Basic Research

    Educational Efforts: Strategic Plan, Commitment, Coordination
    (2:00 p.m. – 6:00 p.m.)
    Moderators:
    Joann Boughman, PhD, American Society of Human Genetics
    Melissa Dempsey, MS, University of Chicago
    Tuesday, September 27
    8:00 a.m. Special Address
    TBA
    8:30 a.m. General Session: Learning from the Community (progress summary by each breakout group followed by open discussion)
    Moderators:
    Giovanna Spinella, MD, ORD, NIH
    Bin Chen, PhD, CDC

    Infrastructure Issues
    (8:30 a.m. – 9:30 a.m.)
    R. Rodney Howell, MD, University of Miami School of Medicine
    Rick J. Carlson, JD, University of Washington

    Models Approaches and Networks
    (9:30 a.m. – 10:15 a.m.)
    Roberta A. Pagon, MD, University of Washington
    David H. Ledbetter, PhD, Emory University School of Medicine
    10:15 a.m. Break
    10:45 a.m. General Session (continued)

    Quality Assurance Framework
    (10:45 a.m. – 11:30 a.m.)
    Carol Greene, MD, University of Maryland School of Medicine

    Educational Efforts
    (11:30 a.m. – 12:00 noon)
    Joann Boughman, PhD, American Society of Human Genetics
    12:00 noon Summary and Next Steps
    Stephen C. Groft, PharmD, ORD, NIH
    D. Joe Boone, PhD, CDC
    12:30 p.m. Adjourn