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Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

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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.

Abbreviations

Congenital bilateral absence of the vas deferens
CBAVD
Cystic Fibrosis
CF
Cystic Fibrosis External Quality Assessment
CF EQA
Cystic Fibrosis Genetic Analysis Consortium (http://www.genet.sickkids.on.ca)
CFGAC
Cystic Fibrosis Transmembrane Conductance Regulator
CFTR
Chorionic Villous Sampling
CVS
European Cystic Fibrosis Society
ECFS
Health Technology Assessment
HTA
In Vitro Fertilization
IVF
Organization for Economic Cooperation and Development
OECD
Pre-implantation Genetic Diagnosis
PGD.

Keywords

Cystic Fibrosis
CFTR
Genetic analysis
Carrier screening
Carrier testing

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