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Recommendations for population-based cystic fibrosis carrier screening
By Julie Buckles

A medical genetics organization is recommending that all pregnant women and couples considering conception be notified about carrier screening for cystic fibrosis. The American College of Medical Genetics (ACMG) specifies that testing should be "offered" to non-Jewish Caucasians and Ashkenazi Jews and "made available" to other ethnic groups. Cystic fibrosis (CF) is most common in Caucasians and has the most accurate test results in Caucasians and Ashkenazi Jews.

The ACMG Subcommittee on Cystic Fibrosis Screening has met twice a year since 1998 in an effort to help implement population-based CF carrier screening and to develop "Clinical and Laboratory Provider Guidelines." The Subcommittee published 10 recommendations in the March/April 2001 issue of Genetics in Medicine, a peer-reviewed journal of the ACMG.

Among the Subcommittee's recommendations are:

• Clinics should either use a couple-based or sequential testing model depending on the target population, clinical setting and judgement of the practitioner. Couple-based screening involves collection and testing of specimens from both parents. In sequential testing, one member of the couple—usually the woman—is tested first, and if a positive result is obtained, then the partner is tested.

• Laboratories should use a pan-ethnic mutation panel that includes all CF-causing mutations with a frequency of more than one percent in the general US population. More than 900 mutations in the CF gene have been identified. Not all of them cause CF. The Subcommittee has compiled a standard screening panel of 25 CF-causing mutations that appear in the US population at more than one percent.

The recommendations outlined in Genetics in Medicine along with recommendations from the American College of Obstetricians and Gynecologists and the National Institutes of Health will be incorporated into a joint document entitled "Preconceptual and Prenatal Carrier Screening for Cystic Fibrosis."

See related GNN article
»Test Case for Genetic Testing

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Grody, W.W. et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3, 149-154 (March/April 2001).

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