Journal of the Royal College of Physicians of London · 1992 · 24 citations · 3 references
MedicineHealth SciencesPreventive MedicineEpidemiologyPopulation HealthReproductive HealthCystic FibrosisInherited Disease TestingPopulation ScreeningScreeningCarrier TestingCystic Fibrosis GeneticsCystic Fibrosis ScreeningMass Media Effects
We report a questionnaire survey of 216 adults (aged 16-68) attending the dental hospital in Newcastle. This was undertaken to provide a representative assessment of the level of knowledge in the community of cystic fibrosis and attitudes towards testing for carrier status. Knowledge of inheritance and symptomatology of the condition was scored and found to be less than previously reported in selected population groups. In the majority the source of information reported was the mass media; only 27 respondents had any contact with an affected individual. The questionnaire provided information about the inheritance and effects of cystic fibrosis. Three-quarters of the respondents accepted the idea of carrier testing for themselves, which included most of those of reproductive age, and all considered that testing should be available to those planning a family. General practice surgeries were the most favoured venue for testing. The implications of these findings for those involved in the planning of population screening programmes are considered.
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Identification of the Cystic Fibrosis Gene: Genetic Analysis
Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations
Lutz Nährlich, Jochen G. Mainz, Constantin Adams et al. · Cellular Physiology and Biochemistry · 2013 · 2.5K citations · Full text