Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

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• 作者：Carlo Castellani ; Milan Macek Jr. ; Jean-Jacques Cassiman ; Alistair Duff ; John Massie ; Leo P. ten Kate ; David Barton ; Garry Cutting ; Bruno Dallapiccola ; Elisabeth Dequeker ; Emmanuelle Girodon ; Wayne Gr
• 关键词：Cystic Fibrosis ; CFTR ; Genetic analysis ; Carrier screening ; Carrier testing
• 刊名：Journal of Cystic Fibrosis
• 出版年：2010
• 出版时间：May 2010
• 年：2010
• 卷：9
• 期：3
• 页码：165-178
• 全文大小：249 K

文摘

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.