Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development : proceedings of a 1997 workshop

Cystic fibrosis (CF) is a genetic disease that can be detected in newborn infants (i.e., those aged < or = 1 month) by immunotrypsinogen testing. The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. Although limited CF screening for newborns has been used since the 1980s, the clinical, social, and economic outcomes of population-based screening are controversial. During January 1997, a workshop was convened at CDC in Atlanta, Georgia to discuss the benefits and risks associated with screening newborns for CF and to develop public health policy concerning such screening. The workshop planning committee comprised representatives from CDC, the Cystic Fibrosis Foundation, the National Institutes of Health, and the University of Wisconsin. Experts in the fields of CF, public health, the screening of newborns, and economics also contributed to discussions. Workshop participants addressed a) benefits and risks, b) laboratory testing, and c) economics concerning the implementation of routine CF screening for newborns. Summaries of these discussions and the resulting workshop recommendations are presented in this report. These recommendations, developed by workshop participants, will be useful to medical and public health professionals and state policymakers who are evaluating the merits of population-based screening of newborns for CF.Introduction -- Background -- Workshop objectives and agenda -- Summary of plenary presentations -- Work group summaries and recommendations -- Overall workshop conclusions and recommendations -- Reference.December 12, 1997.The material in this report was prepared for publication by: National Center for Environmental Health.The following CDC staff members prepared this report: Joanne Cono, Division of Birth Defects and Developmental Disabilities; Noreen L. Qualls, Division of Environmental Hazards and Health Effects; Muin J. Khoury, Office of Genetics and Disease Prevention; W. Harry Hannon, Division of Environmental Health Laboratory Sciences, National Center for Environmental Health; in collaboration with Philip M. Farrell, School of Medicine, University of WisconsinIncludes bibliographical references (22-24)