|
SESSION I.
TIME |
OVERVIEW AND
OBJECTIVES OF THE CONFERENCE
Moderator: Muin Khoury |
|
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
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
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
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
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
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
|
