Lives In The Balance: Assessing The Risks Of Waiting For Perfectly Accurate Tests

Discovery of the cystic fibrosis gene in late 1989 set off a flurry of excitement in the scientific community over the possibility of mass screening for the most common lethal recessive gene among persons of European descent. About one in 26 American whites carries the gene, and about one in 2,500 newborns has CF. Carrier testing would identify couples in which both partners carry the gene and would enable them to decide whether to take the one-in-four risk of having a child with CF or whether

Dorothy Wertz
Jan 20, 1991
Discovery of the cystic fibrosis gene in late 1989 set off a flurry of excitement in the scientific community over the possibility of mass screening for the most common lethal recessive gene among persons of European descent. About one in 26 American whites carries the gene, and about one in 2,500 newborns has CF. Carrier testing would identify couples in which both partners carry the gene and would enable them to decide whether to take the one-in-four risk of having a child with CF or whether to pursue alternatives, such as adoption, donor insemination by a noncarrier, or prenatal diagnosis for CF, which is now possible. Yet, more than a year after identification of the gene, CF testing remains mired in controversy.

As some geneticists foresaw years earlier, new tests are frequently accompanied by technical, economic, or social problems. The new CF tests have all three. They identify the F508...

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