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Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

Castellani, Carlo; Macek, Milan, Jr.; Cassiman, Jean-Jacques; Duff, Alistair; Massie, John; ten Kate, Leo P.; Barton, David; Cutting, Garry; Dallapiccola, Bruno and Dequeker, Elisabeth, et al. (2010) In Journal of Cystic Fibrosis 9(3). p.165-178
Abstract
This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies who are considering or planning its establishment. The general principles and target population of Cystic Fibrosis carrier screening, advantages and disadvantages, health economics, monitoring and future evaluative and research directions were covered. A range of screening strategies have been assessed and compared: pre-conceptional and prenatal screening; individual and couple screening;... (More)
This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies who are considering or planning its establishment. The general principles and target population of Cystic Fibrosis carrier screening, advantages and disadvantages, health economics, monitoring and future evaluative and research directions were covered. A range of screening strategies have been assessed and compared: pre-conceptional and prenatal screening; individual and couple screening; sequential and simultaneous sampling or testing. Furthermore, technical issues were examined with respect to the choice of the panel of mutations, its detection rate, sensitivity, management of intermediate 'at-risk' couples, screening approach to different populations and ethnic minorities, and assurance of laboratory quality control. The consensus statement also aims to establish the benchmarks for communicating with health care providers, the general public and potential and actual participants before and after the genetic test. (C) 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved. (Less)
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publication status
published
subject
keywords
testing, Carrier screening, Genetic analysis, Cystic Fibrosis, CFTR, Carrier
in
Journal of Cystic Fibrosis
volume
9
issue
3
pages
165 - 178
publisher
Elsevier
external identifiers
  • wos:000279029400003
  • scopus:77953359611
ISSN
1873-5010
DOI
10.1016/j.jcf.2010.02.005
language
English
LU publication?
yes
id
fab55452-5886-4072-8853-e8d887ae8c8f (old id 1630117)
date added to LUP
2010-07-23 12:43:22
date last changed
2018-05-29 11:05:37
@article{fab55452-5886-4072-8853-e8d887ae8c8f,
  abstract     = {This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies who are considering or planning its establishment. The general principles and target population of Cystic Fibrosis carrier screening, advantages and disadvantages, health economics, monitoring and future evaluative and research directions were covered. A range of screening strategies have been assessed and compared: pre-conceptional and prenatal screening; individual and couple screening; sequential and simultaneous sampling or testing. Furthermore, technical issues were examined with respect to the choice of the panel of mutations, its detection rate, sensitivity, management of intermediate 'at-risk' couples, screening approach to different populations and ethnic minorities, and assurance of laboratory quality control. The consensus statement also aims to establish the benchmarks for communicating with health care providers, the general public and potential and actual participants before and after the genetic test. (C) 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.},
  author       = {Castellani, Carlo and Macek, Milan, Jr. and Cassiman, Jean-Jacques and Duff, Alistair and Massie, John and ten Kate, Leo P. and Barton, David and Cutting, Garry and Dallapiccola, Bruno and Dequeker, Elisabeth and Girodon, Emmanuelle and Grody, Wayne and Highsmith, Edward W. and Kaariainen, Helenal and Kruip, Stephan and Morris, Michael and Pignatti, Pier Franco and Pypops, Ulrike and Schwarz, Martin and Soller, Maria and Stuhrman, Manfred and Cuppens, Harry},
  issn         = {1873-5010},
  keyword      = {testing,Carrier screening,Genetic analysis,Cystic Fibrosis,CFTR,Carrier},
  language     = {eng},
  number       = {3},
  pages        = {165--178},
  publisher    = {Elsevier},
  series       = {Journal of Cystic Fibrosis},
  title        = {Benchmarks for Cystic Fibrosis carrier screening: A European consensus document},
  url          = {http://dx.doi.org/10.1016/j.jcf.2010.02.005},
  volume       = {9},
  year         = {2010},
}