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

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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 mutation, which accounts for about 76 percent of CF carriers among people of European descent, but the remaining 24 percent of carriers remain undiscovered. By testing for an additional three mutations, it is possible to discover about 84 percent of carriers in this population. For Ashkenazic Jews and African Americans, among whom the delta F508 mutation is a less common cause of CF, the tests identify a far smaller percentage of those who are actually CF carriers.

The tests are not cheap: the usual cost to the patient for testing for four mutations is about $250, which is rarely reimbursed by insurance because the CF tests are still considered experimental.

Further, no one is certain what the general population knows about CF ...

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