Statement from
The National Institutes of Health
Workshop on Population Screening
for the Cystic Fibrosis Gene

[Excerpts]

A major question is whether population-based screening for cystic fibrosis carriers could or should be implemented at present. The purpose of such screen would be to allow people to make more informed reproductive decisions with regard to the risk of cystic fibrosis in their offspring.

Unlike testing in the general population, testing for carriers in families in which the disease has occurred is nearly 100 percent informative. Therefore, testing should be offered to all individuals and couples with a family history of cystic fibrosis.

In contrast, under current circumstances population-based screening should not be recommended for individuals with a negative family history. First, currently the test will only detect 70 to 75 percent of carriers. Second, the frequency of the disease and the different mutations vary according to racial and ethnic background. Third, there are substantial limitations on the ability to educate people regarding the use of an imperfect test. Fourth, without more definitive tests, about 1 in 15 couples - those in which one partner has a positive test and the other has a negative test - would be left at increased risk of bearing a child with cystic fibrosis. These difficulties would be substantially reduced if testing could detect at least 90 to 95 percent of carriers.

Regardless of when or whether population-based screening becomes widespread, there is consensus on a number of screening guidelines. First, screening should be voluntary and confidentiality must be assured. Second, screening requires informed consent. Third, providers have an obligations to ensure that adequate education and counseling are included. Fourth, quality control of all aspects is required. Finally, there should be equal access to testing. Cystic fibrosis carriers should not be discriminated against with regard to insurability or employment.

The most appropriate group for population-based screening comprises those of reproductive age. Although it is recognized that testing will often be provided to couples during pregnancy, it is preferable to offer screening before conception. Preconception testing offers a couple a broader range of reproductive options.