Explorative Study of Costs, Effects and Savings of Screening for Female Fragile X Premutation and Full Mutation Carriers in the General Population
- 1 May 1998
- journal article
- research article
- Published by S. Karger AG in Public Health Genomics
- Vol. 1 (1) , 36-47
- https://doi.org/10.1159/000016133
Abstract
Objective: Evaluation of the costs, effects and savings of three strategies for female fragile X premutation and full mutation carrier screening in the general population. Methods: We calculated the costs, effects and savings by using a general model for prenatal, preconceptional, and school carrier screening. Assumptions were based on literature data, expert opinions, prices and tariffs. Results: Prenatal screening will detect most carriers and will lead to the highest number of avoided fragile X syndrome patients. The costs per detected carrier are quite similar for all screening programmes (around USD 45,000). All screening strategies have a favourable cost-savings balance (USD 14 million for prenatal screening, USD 9 million for preconceptional screening and USD 2 million for school screening). Conclusions: From an economic point of view, there is no obstacle to fragile X screening. The decision to screen or not can (and should) therefore concentrate on discussion of medical, social, psychological and ethical considerations.Keywords
This publication has 9 references indexed in Scilit:
- Prenatal diagnosis and carrier screening for fragile X by PCRAmerican Journal of Medical Genetics, 1996
- Prevalence of fragile X syndromeAmerican Journal of Medical Genetics, 1996
- Length of uninterrupted CGG repeats determines instability in the FMR1 geneNature Genetics, 1994
- Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR testPublished by American Medical Association (AMA) ,1993
- The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutationNature Genetics, 1993
- Characterization and localization of the FMR-1 gene product associated with fragile X syndromeNature, 1993
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991