title: Benchmarks for cystic fibrosis carrier screening: a European consensus document.
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.
authors.affiliation: Verona Cystic Fibrosis Centre, Italy. carlo.castellani@ospedaleuniverona.it <carlo.castellani@ospedaleuniverona.it>
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Cassiman
authors.forename: Alistair
authors.initials: A
authors.lastname: Duff
authors.forename: John
authors.initials: J
authors.lastname: Massie
authors.forename: Leo P
authors.initials: LP
authors.lastname: ten Kate
authors.forename: David
authors.initials: D
authors.lastname: Barton
authors.forename: Garry
authors.initials: G
authors.lastname: Cutting
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Dequeker
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Girodon
authors.forename: Wayne
authors.initials: W
authors.lastname: Grody
authors.forename: Edward W
authors.initials: EW
authors.lastname: Highsmith
authors.forename: Helenal
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: Stephan
authors.initials: S
authors.lastname: Kruip
authors.forename: Michael
authors.initials: M
authors.lastname: Morris
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Ulrike
authors.initials: U
authors.lastname: Pypops
authors.forename: Martin
authors.initials: M
authors.lastname: Schwarz
authors.forename: Maria
authors.initials: M
authors.lastname: Soller
authors.forename: Manfred
authors.initials: M
authors.lastname: Stuhrman
authors.forename: Harry
authors.initials: H
authors.lastname: Cuppens
mesh_terms: D019985:Benchmarking; D003550:Cystic Fibrosis / Q000235:genetics*; D005060:Europe; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D006266:Health Education; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods / Q000458:organization & administration; D020641:Polymorphism, Single Nucleotide / Q000235:genetics