Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-ThalassemiaLaberge A.-M. · Watts C. · Porter K. · Burke W.
aInstitute for Public Health Genetics and bDepartment of Health Services, School of Public Health and Community Medicine, University of Washington, and cDepartment of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, Wash., USA; dMedical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Que., Canada
Objective: The objective of this study was to identify factors involved in the success of 2 well-established population-based carrier screening programs – Tay-Sachs disease (TSD) in Ashkenazi Jews and β-thalassemia in Sardinia and Cyprus – and to assess the potential for success of a population-based 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 β-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 β-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 β-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 β-thalassemia carrier screening, and a consensus on the value or success of CF carrier screening may be difficult to achieve.
Medical Genetics Division, 6e bloc 7, CHU Sainte-Justine
3175 Côte-Ste-Catherine, Montreal, Que., H3T 1C5 (Canada)
Tel. +1 514 345 4727, Fax +1 514 345 4766
Accepted after revision: July 15, 2009
Received: January 18, 2009
Published online: October 26, 2009
Number of Print Pages : 10
Number of Figures : 0, Number of Tables : 1, Number of References : 77
Public Health Genomics
Vol. 13, No. 5, Year 2010 (Cover Date: June 2010)
Journal Editor: Knoppers B.M. (Montreal, Que.), Brand A. (Maastricht), Burke W. (Seattle, Wash.), Khoury M.J. (Atlanta, Ga.)
ISSN: 1662-4246 (Print), eISSN: 1662-8063 (Online)
For additional information: http://www.karger.com/PHG