Genomics|Training|Conference|PI Summary of Recommendations and Appendix

Meeting Report

Applying Genetics and Public Health Strategies to Primary Immunodeficiency Diseases

November 8-9, 2001
Atlanta, Georgia

Prepared by:
Office of Genomics and Disease Prevention
Centers for Disease Control and Prevention
Department of Health and Human Services

SUMMARY OF RECOMMENDATIONS FOR FUTURE PUBLIC HEALTH RESEARCH AND ACTIVITIES

Public Health Assessment

Collect good epidemiologic data on the incidence, prevalence, and natural history of single-gene disorders, such as PI diseases; the relationship between genotype and phenotype; and the impact of early recognition and effective therapies on morbidity and mortality.
Target profound T-cell defects, antibody deficiencies, and CGD as priorities for public health assessment.
Consider pilot activities to collect, use, and improve epidemiologic and surveillance data: (1) convene a working group
to provide guidance on accurate case definitions and for registry and surveillance activities; (2) develop
collaborative efforts between public and private groups to expand current PI disease registries in terms of data
collection, completeness, and analysis; (3) examine existing population-based databases; (4) develop collaborative
surveillance activities at the state level for genetic diseases, including PI diseases.
Promote the development of a network of model centers, and encourage the use of these centers for epidemiologic
data collection and specimen repository.

Laboratory Issues

Ensure that referral centers and laboratory testing are accessible for the diagnosis of persons with rare genetic diseases, such as suspected PI diseases.
Collect data on the analytic and clinical validity of molecular tests used for diagnosis or proposed screening programs.
Review gene test databases in the United States and Europe to highlight the availability and possible sources of data on the validity of tests.

Public Health Interventions

Recommendations for practical and effective public health interventions to reduce morbidity and mortality from genetic diseases, such as PI diseases, focused on two areas: early clinical recognition and newborn screening.

1. Early clinical recognition

Collect data on the effectiveness of early intervention for PI diseases.
Establish a working group to create early clinical recognition tools for PI diseases for specific target audiences and to identify which PI diseases should be targeted for early recognition.
Before widespread application, evaluate the usefulness and accuracy of early clinical recognition tools (e.g., clinical signs and symptoms, initial laboratory tests) for early recognition of PI diseases; explore existing databases to test proposed algorithms.
Evaluate the usefulness of obtaining a family history.

2. Potential for population-based screening

Consider SCID or profound T-cell depletion as possible candidates for pilot studies of newborn screening.
Establish partnerships among investigators and CDC laboratory personnel to develop and validate methods to measure
T-cell lymphocytes from dried blood spots. Validation could include blinded comparisons of T-cell counts using an assay
from dried blood spots, with manual differential count from cord blood samples as the gold standard. IRB issues should be investigated.
Once an assay is developed and validated, identify centers for pilot testing of the screening assay, in collaboration with states, CDC, HRSA, NIH, and other partners.

Communication Strategy

Goal: Develop a comprehensive strategy that considers and integrates the principles of effective communication within every phase of the PI campaign process from research to education and outreach.

o Step 1--Convene a working group meeting of PI scientists to develop consensus on research regarding the case definition and clinician recommendations that will form the basis of the communication messages.

o Step 2--Convene a working group of health communication specialists and other appropriate PI partners to establish next steps toward a comprehensive communication strategy that accomplishes the formative research, process, and outcome evaluation (described below) based on the findings of the PI scientists' working group meeting (described above).

o Step 3--Conduct formative evaluation research

Test pre-existing knowledge, determine target audiences, define concepts to include in the communication messages, in addition to considering these aspects of materials already developed and disseminated.
Establish and encourage partnerships with healthcare provider organizations, public and private advocacy groups, and academic centers to develop an overall approach to educational materials.
Develop or revise existing educational materials using messages consistent with findings of formative research.
Pretest messages with target audiences and revise messages based on outcomes of pretesting.
Disseminate messages that are consistent with recommendations proposed from pretesting.
- Perform process evaluation to track communication activities, assess reach with target audiences, and improve program accordingly.
- Conduct outcome evaluation to demonstrate and build upon campaign results.

APPENDIX I - PARTICIPANTS AND ATTENDEES

Francisco Bonilla, MD
American Academy of Asthma, Allergy, and Immunology/Children's Hospital
Boston, MA

Barbara Brenner, DrPH, MSW
Mount Sinai Hospital
New York, NY

Rebecca H. Buckley, MD
Duke University Medical Center
Durham, NC

Nancye Buelow
Genetic Alliance
Clyde, NC

Preston Campbell, MD
Cystic Fibrosis Foundation
Bethesda, MD

Elaine Collier, MD
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Bethesda, MD

Anne Marie Comeau, PhD
New England Newborn Screening Program
University of Massachusetts Medical School
Jamaica Plain, MA

Mary Ellen Conley, MD
University of Tennessee College of Medicine
St. Jude Children's Research Hospital
Memphis, TN

Chris Cunniff, MD
American Academy of Pediatrics/
University of Arizona College of Medicine
Tucson, AZ

Charlotte Cunningham-Rundles, MD, PhD
Mount Sinai School of Medicine
New York, NY

Allan Lock, DVM
National Institute of Child Health & Human Development,
National Institutes of Health
Bethesda, MD

John Meaney, PhD
University of Arizona Health Science Center
Tucson, AZ

Fred Modell
The Jeffrey Modell Foundation
New York, NY

Vicki Modell
The Jeffrey Modell Foundation
New York, NY

Thomas L. Moran
Immune Deficiency Foundation
Towson, MD

Andre J. Nahmias, MD, MPH
Emory University
Atlanta, GA

Hans D. Ochs, MD
University of Washington School of Medicine
Seattle, WA

James M. Oleske, MD, MPH
New Jersey Medical School
Newark, NJ

Mary E. Paul, MD
Baylor College of Medicine/
Texas Children's Hospital
Houston, TX

Jennifer M. Puck, MD
National Human Genome Research Institute
National Institutes of Health
Bethesda, MD

Michele Lloyd-Puryear, MD, PhD
Health Resources and Services Administration
Rockville, MD

CDC Staff

National Center for Environmental Health

Richard J. Jackson, MD, MPH/Director
Timothy G. Baker
Scott Grosse, PhD
Marta Gwinn, MD, MPH
Muin Khoury, MD, PhD
Mary Lou Lindegren, MD
Marifran Mattson, PhD
Robert F. Vogt, Jr, PhD
Paula Yoon, ScD, MPH

Lyle Dennis
Cavarocchi Ruscio Dennis (CRD) Associates
Washington, DC

Roger Eaton, PhD
New England Newborn Screening Program
University of Massachusetts Medical School
Jamaica Plain, MA

Jonathan Goldsmith, MD
Immune Deficiency Foundation
Towson, MD

Nancy S. Green, MD
March of Dimes
White Plains, NY

Edward Gruson
National Organization for Rare Disorders
Fairfield, CT

James Haddow, MD
Foundation for Blood Research
Scarborough, ME

Celine Hanson, MD
Texas Department of Health
Austin, TX

Michael Hershfield, MD
Duke University Medical Center
Durham, NC

Richard Hong, MD
University of Vermont
Burlington, VT

Lisa Kobrynski, MD
Emory University
Atlanta, GA

Chaim Roifman, MD
The Hospital for Sick Children
Toronto, Ontario

John Salamone
Advisory Committee on Immunization Practice/
National Italian American Foundation
Washington, DC

William T. Shearer, MD, PhD
Clinical Immunology Society/
Baylor College of Medicine
Houston, TX

Priscilla Short, MD
American Medical Association
Chicago, IL

C.I. Edvard Smith, MD, PhD
European Society for Immunodeficiencies/
Clinical Research Center, Karolinska Institutet
Huddinge, Sweden

Richard Stiehm, MD
UCLA
Los Angeles, CA

Brad Therrell, PhD
National Newborn Screening and Genetics Resource Center
Austin, TX

Tracy Trotter, MD
American Academy of Pediatrics
San Ramon, CA

Mike Watson, PhD
American College of Medical Genetics
Bethesda, MD

Jerry Winkelstein, MD
Immune Deficiency Foundation/
Johns Hopkins Hospital
Baltimore, MD

National Center on Birth Defects and Developmental Disabilities

José Cordero, MD, MPH/Director
Coleen Boyle, PhD
Amanda Brown, PhD
Larry Edmonds, MSPH
Katherine Lyon-Daniel, PhD
Cynthia A. Moore, MD, PhD
Sonja Rasmussen, MD

National Center for HIV, STD, and TB Prevention

Sherry Orloff, MPH

National Center for Infectious Diseases

Sally Crudder, MPH
Steve McDougal, MD
Mike Soucie, PhD
Tom Spira, MD