Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and beta-Thalassemia

作者：Laberge A M^*; Watts C; Porter K; Burke W

来源：Public Health Genomics, 2010, 13(5): 310-319.

DOI：10.1159/000253122

• Beta-thalassemia
• Carrier screening
• Cystic fibrosis
• Public health genetics
• Tay-Sachs disease

Objective: The objective of this study was to identify factors involved in the success of 2 well-established populationbased carrier screening programs - Tay-Sachs disease (TSD) in Ashkenazi Jews and beta-thalassemia in Sardinia and Cyprus-and to assess the potential for success of a populationbased cystic fibrosis (CF) carrier screening strategy using these factors. Methods: We performed a literature review and key informant interviews. Results: Factors involved in the success of TSD and beta-thalassemia carrier screening programs include disease characteristics (well-defined population at risk, severe disease with predictable course, availability of effective treatment), test characteristics (high sensitivity, straightforward interpretation of results), and community characteristics (involvement of community, support of families and advocacy groups, consensus in favor of avoiding affected births). Current CF screening strategies include few of the factors listed above. Unlike TSD and beta-thalassemia, the purpose of current CF carrier screening strategies is informed reproductive decision-making, without an explicit goal of reducing disease incidence. Conclusion: When compared to TSD and beta-thalassemia, CF is a less favorable candidate for population-based carrier screening. Because of its different purpose, CF carrier screening will require different measures of success than those used for TSD and beta-thalassemia carrier screening, and a consensus on the value or success of CF carrier screening may be difficult to achieve.

• 出版日期2010