Events

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