The cystic fibrosis gene: medical and social implications for heterozygote detection

Article Abstract:

Although progress in genetic research has enabled the development of genetic screening programs to prevent the occurrence of disease, or to at least provide prospective parents with information to make an informed decision, problems still exist. Specifically, problems include stigmatization, confusion, and error. Cystic fibrosis (CF) is one of the diseases which may be passed on by asymptomatic carriers; about 1 in 25 whites are carriers, representing over eight million Americans. CF develops in approximately 1 of every 2,500 live births among whites, and is the most common autosomal recessive disease in this population. Expansion of CF screening by biotechnological companies is anticipated to be the largest genetic screening program ever conducted. The importance of thorough testing of methods prior to utilization is stressed. Errors in testing that provide false-negative or false-positive results may cause considerable harm to individuals who use this information to make reproductive decisions. Education of the general public regarding the nature of genetic disorders is also important, as are better informed physicians. There are also psychological implications attached to testing positive as a genetic disorder carrier. A previous study of sickle cell anemia screening found that positive identification of carriers resulted in social exclusion. It is emphasized that as CF screening programs expand, so must education and counseling programs. Guidelines must also include strict standards for accuracy of results, quality control, and informed consent. (Consumer Summary produced by Reliance Medical Information, Inc.)

Psychological aspects, Social aspects, Product development, Genetic screening, Genetic testing, Collaborative Research Inc., Integrated Genetics Inc., GeneScreen Inc.

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Proportion of Cystic Fibrosis Gene Mutations Not Detected by Routine Testing in Men With Obstructive Azoospermia

Article Abstract:

Many infertile men with obstructions in the anatomical structures that create sperm may have mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that are not detected by traditional genetic screening. In a study of 198 infertile men, researchers compared the results of traditional genetic screening for the 31 most common CFTR mutations with the results of more extensive screening. The traditional tests did not detect 46% of the mutations in men with congenital bilateral absence of the vas deferens, 50% of the mutations in men with congenital unilateral absence of the vas deferens, and 79% of the mutations in men with epididymal obstruction.

Identification and classification, Infertility, Male, Male infertility

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Mutation in the Gene Responsible for Cystic Fibrosis and Predisposition to Chronic Rhinosinusitis in the General Population

Article Abstract:

Mutations in the gene associated with cystic fibrosis may cause chronic sinusitis, even in people who don't have cystic fibrosis. In a study of 147 people with chronic sinusitis and 123 with no sinusitis, 7% of those with sinusitis had a mutation in the CF gene compared to 2% of those without sinusitis.

United States, Health aspects, Sinusitis

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