Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

被引:57
作者
Castellani, Carlo [1 ]
Macek, Milan, Jr. [2 ,3 ]
Cassiman, Jean-Jacques
Duff, Alistair [5 ]
Massie, John [6 ]
ten Kate, Leo P. [7 ,8 ]
Barton, David [9 ]
Cutting, Garry [10 ]
Dallapiccola, Bruno [11 ]
Dequeker, Elisabeth [4 ]
Girodon, Emmanuelle [12 ]
Grody, Wayne [13 ,14 ,15 ,16 ,17 ,18 ]
Highsmith, Edward W. [19 ]
Kaariainen, Helenal [20 ]
Kruip, Stephan [21 ]
Morris, Michael [22 ]
Pignatti, Pier Franco [23 ]
Pypops, Ulrike
Schwarz, Martin [24 ]
Soller, Maria [25 ]
Stuhrman, Manfred [26 ]
Cuppens, Harry
机构
[1] Verona Cyst Fibrosis Ctr, Verona, Italy
[2] Charles Univ Prague 2, Sch Med, Dept Biol & Med Genet, Prague, Czech Republic
[3] Univ Hosp Motol, Prague, Czech Republic
[4] Katholieke Univ Leuven, Ctr Human Genet, Biomed Qual Assurance Res Unit, Louvain, Belgium
[5] St James Univ Hosp, Leeds Reg Cyst Fibrosis Unit, Leeds, W Yorkshire, England
[6] Royal Childrens Hosp, Dept Resp Med, Melbourne, Vic, Australia
[7] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[8] Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands
[9] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland
[10] Johns Hopkins Univ, Baltimore, MD USA
[11] Osped Pediat Bambino Gesu, IRCCS, Rome, Italy
[12] Hop Henri Mondor, Serv Biochim & Genet, F-94010 Creteil, France
[13] Univ Calif Los Angeles, Sch Med, Dept Path & Lab Med, Div Med Genet, Los Angeles, CA USA
[14] Univ Calif Los Angeles, Sch Med, Dept Pediat, Div Med Genet, Los Angeles, CA 90024 USA
[15] Univ Calif Los Angeles, Sch Med, Dept Human Genet, Div Med Genet, Los Angeles, CA USA
[16] Univ Calif Los Angeles, Sch Med, Dept Path & Lab Med, Div Mol Pathol, Los Angeles, CA USA
[17] Univ Calif Los Angeles, Sch Med, Dept Pediat, Div Mol Pathol, Los Angeles, CA 90024 USA
[18] Univ Calif Los Angeles, Sch Med, Dept Human Genet, Div Mol Pathol, Los Angeles, CA USA
[19] Mayo Clin, Mol Genet Lab, Rochester, MN USA
[20] Natl Inst Hlth & Welf, Helsinki, Finland
[21] Mukoviszidose eV German CF Selfhelp Assoc, Bonn, Germany
[22] Hop Univ Geneve, Serv Med Genet, Lab Diagnost Mol, Geneva, Switzerland
[23] Univ Verona, Sect Biol & Genet, I-37100 Verona, Italy
[24] St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England
[25] Univ Lund Hosp, Dept Clin Genet, S-22185 Lund, Sweden
[26] Hannover Med Sch, Inst Humangenet, Hannover, Germany
关键词
Cystic Fibrosis; CFTR; Genetic analysis; Carrier screening; Carrier testing; LUNG-DISEASE; PRENATAL-DIAGNOSIS; GENETIC MODIFIERS; PREGNANT-WOMEN; MUTATIONS; IDENTIFICATION; POPULATIONS; ASSOCIATION; EXPERIENCE; ATTITUDES;
D O I
10.1016/j.jcf.2010.02.005
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
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.
引用
收藏
页码:165 / 178
页数:14
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