The frequency of CF among Caucasians makes it a prime candidate for population-based testing. But the devil is in the details, says Garry Cutting, a CF expert at the Johns Hopkins University School of Medicine. And there are a lot of details. At least a dozen studies in the literature have analyzed costs and benefits, reviewed educational materials, surveyed physician readiness, and gauged patient interest, all with mixed results. Virtually everyone agrees that testing the general population does not make sense.
Individuals are interested in their carrier status only when they become potential parents.
Not everyone agrees that the public is ready to sort through the nuances of CF or that obstetricians are prepared to explain test results. Prenatal population screening for CF was first recommended in 1997, when the National Institutes of Health convened the Consensus Development Conference on Cystic Fibrosis . Smaller scale carrier screening now exists in pockets of the world. In the U.S. and Canada, the incidence of Tay-Sachs in the Jewish population has been reduced by more than 90 percent. Tay-Sachs is uniformly fatal, tragic in every case.