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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.

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.

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.

  • 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.

  • 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).

  • 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

    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

    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

    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

     

 

 

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