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Meeting Report: Applying Genetics and Public Health Strategies to Primary Immunodeficiency Diseases

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November 8-9, 2001 ~ Atlanta, Georgia

Meeting Agenda | Full Meeting Summary | Meeting Synopsis | Meeting Participants

SESSION I.

OVERVIEW AND OBJECTIVES OF THE CONFERENCE
Moderator: Muin Khoury
PRESENTER
8:00 a.m. Welcome and Introductions
Jeffrey Koplan
8:10 a.m. Integrating Genetics Into Public Health
Muin Khoury
8:20 a.m. Goals and Objectives of the Meeting
Mary Lou Lindegren
8:30 a.m. Overview of Primary Immunodeficiency Diseases
Lisa Kobrynski
SESSION II. PUBLIC HEALTH ASSESSMENT OF PRIMARY IMMUNODEFICIENCY DISEASES
Moderators: Coleen Boyle and Celine Hanson
8:45 a.m. Introduction
Coleen Boyle
IIA. Public Health Assessment Efforts: Current and Past
8:55 a.m. Primary Immunodeficiencies: Prevalence and Distribution
E. Richard Stiehm
9:10 a.m. The National Registry of United States Residents with Primary Immunodeficiency Diseases
Jerry Winkelstein
9:25 a.m. The ESID Registry and Immunodeficiency Mutation Databases
C.I. Edvard Smith
IIB. Public Health Assessment Efforts: What Could be Done (Existing Databases, Surveillance, Examples of Other Surveillance Projects)
9:40 a.m. BREAK
9:50a.m. Use of Existing Databases to Study the Impact of Genetic Disease
Sonja Rasmussen
10:05 a.m. Setting up Surveillance Systems: Birth Defects
Larry Edmonds
10:20 a.m. Cystic Fibrosis Patient Registry
Preston Campbell
10:35 a.m. CDC’s Comprehensive Prevention Program for Persons with Bleeding Disorders: A Model Approach
Sally Crudder
10:50 a.m. Discussion
11:30 – 12:30 p.m. LUNCH
12:30 p.m. Perspectives
Richard Jackson
PUBLIC HEALTH INTERVENTIONS
SESSION III. LABORATORY ISSUES
Moderators: Tom Spira and Jennifer Puck
12:45 p.m. Evaluation of Genetic Testing
James Haddow
1:00 p.m. Primary Immunodeficiency Deficiencies: Diagnostic Tests
Hans Ochs
1:15 p.m. Uses of Genetic Testing for Primary Immunodeficiency
Jennifer Puck
1:30 p.m. Discussion
2:00 p.m. BREAK
SESSION IV. STRATEGIES TO INCREASE EARLY CLINICAL RECOGNITION
Moderators: Lisa Kobrynskiy and Charlotte Cunningham-Rundles
2:10 p.m. Prevention Effectiveness Framework for Evaluating Strategies for Earlier Identification of People with Primary Immunodeficiency Disorders
Scott Grosse
2:30 p.m. Primary Immunodeficiency Diseases: Primary Care Perspective
Tracy Trotter
2:45 p.m. Timely Diagnosis of Immunodeficiency
Mary Ellen Conley
3:00 p.m. Targeting Primary Immunodeficiency Development of a Hospital-Based Scoring System to Expand Recognition
Charlotte Cunningham-Rundles
3:30 p.m. Shrinking the Haystack: Approaches to Primary Immunodeficiency Disease for Clinicians
Richard Hong
3:45 p.m. Discussion
SESSION V. POTENTIAL FOR POPULATION-BASED SCREENING
Moderators: Scott Grosse and Rebecca Buckley
4:10 p.m. Population-Based Newborn Screening: Current and Emerging Screening Criteria
Nancy Green
4:25 p.m. Human Severe Combined Immunodeficiency (SCID) and Potential for Newborn Screening
Rebecca Buckley
4:40 p.m. Screening for Primary Immunodeficiency Disease: Potential Laboratory Strategies
Harvey Levy
4:55 p.m. Overview of the CDC Newborn Screening Quality Assurance Programs
Harry Hannon
5:05 p.m. Research Projects Using Dried Blood Spots
Robert Vogt
5:20 p.m. Discussion
6:00 p.m. ADJOURN
6:15 p.m. Reception, Regency V, Hyatt Regency
November 9, 2001
SESSION VI. PRIMARY IMMUNODEFICIENCY EDUCATIONAL PROGRAMS AND OUTREACH EFFORTS
Moderators: Mary Foley, Marifran Mattson, Katherine Lyon-Daniel
8:00 a.m. Individual Presentations

* NIH Educational Outreach Efforts

Allan Lock

* Mt. Sinai’s STRIDE Project

Barbara Brenner

* Jeffrey Modell Foundation Physician Education Programs and Outreach Efforts

Fred Modell

* Immune Deficiency Foundation Physician Education Programs

Jonathan Goldsmith

* NORD’S Databases and Guide to Rare Diseases

Ed Gruson
9:15 a.m. Discussion – Lessons Learned, Recommendations, and Next Steps for Future Primary Immunodeficiency Education and Communication
Moderator: Katherine Lyon-Daniel and Marifran Mattson
SESSION VII. DEVELOPMENT OF RECOMMENDATIONS FOR PUBLIC HEALTH ACTIVITIES AND RESEARCH
9:55 a.m. Charge to Breakout Groups
10:00 a.m. Break
10:10 a.m.

Group A – Centennial IV
Public Health Assessment: Improvement of Existing Studies, Priorities for Additional Studies
Group Chair, Celine Hanson
Rapporteur, Mike Watson
Presenter, Richard Stiehm

Group B – Hanover Room A
Public Health Intervention: Enhanced Early Clinical Recognition;
Clinical Algorithms and Evaluation Strategies, Diagnostic Tests,
Including Genetic, Developing Provider, Patient and Public Education
Group Chair, Richard Hong
Rapporteur, Chris Cunniff
Presenter, Lisa Kobrynski

Group C – Hanover Room B
Potential Role for Population-Based Screening
Group Chair, James Haddow
Rapporteur, Brad Therrell
Presenter, Anne Comeau

12:00-12:15 Prepare Group Reports
12:15-12:20 Groups B and C return to Centennial IV
12:20-1:00 Group Reports and Recommendations
1:00 p.m. Closing Remarks
José Cordero

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