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Title: Statement of The American Society of Human Genetics on cystic fibrosis carrier screening

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:6707346

The identification in 1989 of the cystic fibrosis (CF) gene and its most common mutation immediately raised the possibility of CF carrier detection by DNA analysis. The American Society of Human Genetics (ASHG) issued a statement recommending that CF carrier testing should be made available to individuals with a family history of CF. It was also stated that screening of individuals or couples in the general population should not be offered until the rate of CF carrier detection improves. An additional prerequisite emphasized the need for the establishment of effective educational and counseling programs consistent with previous widely accepted principles. An NIH workshop reached similar conclusions. ASHG recommendations are that screening be limited to individuals with a family history of CF, testing should be accompanied by education and counseling, screening should be voluntary and confidential with appropriate laboratory quality controls, and efforts should be expanded to educate health care providers and the public.

OSTI ID:
6707346
Journal Information:
American Journal of Human Genetics; (United States), Vol. 51:6; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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