TY - JOUR
T1 - Benchmarks for Cystic Fibrosis carrier screening
T2 - A European consensus document
AU - Castellani, Carlo
AU - Macek, Milan
AU - Cassiman, Jean Jacques
AU - Duff, Alistair
AU - Massie, John
AU - ten Kate, Leo P.
AU - Barton, David
AU - Cutting, Garry
AU - Dallapiccola, Bruno
AU - Dequeker, Elisabeth
AU - Girodon, Emmanuelle
AU - Grody, Wayne
AU - Highsmith, Edward W.
AU - Kääriäinen, Helenal
AU - Kruip, Stephan
AU - Morris, Michael
AU - Pignatti, Pier Franco
AU - Pypops, Ulrike
AU - Schwarz, Martin
AU - Soller, Maria
AU - Stuhrman, Manfred
AU - Cuppens, Harry
N1 - Funding Information:
This consensus conference was sponsored by some commercial companies: Bayer HealthCare, Solvay Pharmaceuticals, Luminex, Abbott Molecular, Innogenetics. These companies had no role in the design and conduct of the consensus conference, and in the preparation, review, or approval of the manuscript.
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
KW - CFTR
KW - Carrier screening
KW - Carrier testing
KW - Cystic Fibrosis
KW - Genetic analysis
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U2 - 10.1016/j.jcf.2010.02.005
DO - 10.1016/j.jcf.2010.02.005
M3 - Review article
C2 - 20363197
AN - SCOPUS:77953359611
SN - 1569-1993
VL - 9
SP - 165
EP - 178
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
IS - 3
ER -