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Applying public health strategies to primary immunodeficiency diseases; a potential approach to genetic disorders
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January 14, 2004
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[PDF-728.41 KB]
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Corporate Authors:Centers for Disease Control and Prevention (U.S.) ; Centers for Disease Control and Prevention (U.S.). Public Health Practice Program Office. Division of Laboratory Systems. ; National Center for Environmental Health (U.S.) ; National Center for HIV, STD, and TB Prevention (U.S.). Division of AIDS, STD, and TB Laboratory Research. ; National Center on Birth Defects and Developmental Disabilities (Centers for Disease Control and Prevention)
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Description:Primary immunodeficiency (PI) diseases are a group of primarily single-gene disorders of the immune system. Approximately 100 separate PI diseases have been described, but <20 probably account for >90% of cases. Although diverse, PI diseases share the common feature of susceptibility to infection and result in substantial morbidity and shortened life spans. Most important, prompt diagnosis and treatment can now lead to life-saving treatment and result in marked improvements in the quality and length of life for persons with PI diseases. In November 2001, a workshop was convened by CDC in Atlanta, Georgia, to discuss ways to improve health outcomes among persons with PI disease. A multidisciplinary panel of persons knowledgeable in PI diseases and public health met to identify and discuss public health strategies that can be applied to PI diseases and possibly for other genetic disorders. A systematic assessment based on the established public health framework was applied to the growing group of PI diseases, whose diverse genetic mutations span multiple components of the immune system but all lead to increased incidence and severity of infections. During the meeting, specialists in clinical immunology, public health, genetics, pediatrics, health communication, and ethics from state and federal agencies, academic centers, professional organizations, and advocacy foundations discussed the four components of the public health framework as they relate to PI diseases. These four components include 1) public health assessment (application of traditional public health methods to assess the occurrence and impact of PI diseases on communities); 2) population-based interventions (development, implementation, and evaluation of screening tests administered to newborns and clinical algorithms for early recognition of symptomatic persons to facilitate the earliest possible diagnosis and treatment for PI diseases); 3) evaluation of screening and diagnostic tools (to ensure their quality and appropriateness for identification of patients with PI diseases); and 4) communication (communication with and information dissemination to health-care providers and the public to facilitate prompt and appropriate diagnosis and intervention). The working group's deliberations focused on challenges and opportunities, priority research questions, and recommendations for future action for these four components. These recommendations, developed by workshop participants, will be useful to medical and public health professionals who are evaluating methods to increase recognition of PI diseases and other genetic disorders.
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Content Notes:prepared by Mary Lou Lindegren, Lisa Kobrynski, Sonja A. Rasmussen, Cynthia A. Moore, Scott D. Grosse, Marsha Lynne Vanderford, Thomas J. Spira, J. Steven McDougal, Robert F. Vogt, Jr., W. Harry Hannon, Lisa V. Kalman, Bin Chen, Marifran Mattson, Timothy G. Baker, Muin Khoury.
The material in this report originated in the National Center for Environmental Health; the Office of Genomics and Disease Prevention; and the Division of Laboratory Sciences; the National Center on Birth Defects and Developmental Disabilitiesand the Division of Birth Defects and Developmental Disabilities; the National Center for HIV, STD, and TB Prevention, and the Division of AIDS, STD, and TB Laboratory Research; and the Public Health Practice Program Office, and the Division of Laboratory Systems.
Bibliography: p. 22-26.
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Pages in Document:print; 29 p. ; 28 cm.
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