title: Highlighting the impact of cascade carrier testing in cystic fibrosis families.
abstract: Cascade carrier testing within cystic fibrosis (CF) affected families offers relatives of CF patients the opportunity to know their status regarding the mutation that segregates within their family, and thus to make informed reproductive choices. As an Australian study has recently shown that this test seemed underused, we searched to assess uptake of this test in a European area where CF is common, and to report its public health implications.
  
  
  
  This study relied on 40 CF-affected families from western Brittany, France. Investigations included drawing of family trees and registration of carrier tests performed in those families.
  
  
  
  Of the 459 relatives eligible for testing, 185 were tested, leading to an adjusted uptake rate of testing of 40.7% (95% CI: [34.1%; 47.3%]). The main predictors for having testing were being female (p=0.031) and having a high prior risk (p<0.001). Planning a pregnancy or expecting a child (reported in at least 38.4% of tested relatives) also appeared critical in choosing to be tested. Overall, carrier testing allowed to reassure more than 1/4 of the relatives and to detect five new 1-in-4 at-risk couples who then requested prenatal diagnosis.
  
  
  
  This observational study assesses, for first time in Europe, uptake of CF cascade carrier testing within CF families, which is a critical tool to reassure non-carriers and to detect early new at-risk couples.
authors.affiliation: Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address: ingrid.dugueperoux@univ-brest.fr.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Duguépéroux
authors.affiliation: Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address: carine.l-hostis@inserm.fr.
authors.forename: Carine
authors.initials: C
authors.lastname: L'Hostis
authors.affiliation: Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France; C.H.R.U. Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire, Brest, France. Electronic address: marie-pierre.audrezet@chu-brest.fr.
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Audrézet
authors.affiliation: Centre de Référence et de Compétences de la Mucoviscidose, Roscoff, France. Electronic address: gilles.rault@perharidy.fr.
authors.forename: Gilles
authors.initials: G
authors.lastname: Rault
authors.affiliation: C.H.R.U. Brest, Hôpital Cavale Blanche, Service de Pneumologie, Brest, France. Electronic address: irene.frachon@chu-brest.fr.
authors.forename: Irène
authors.initials: I
authors.lastname: Frachon
authors.affiliation: C.H.I.C. Quimper, Service de Pneumologie, Quimper, France. Electronic address: r.bernard@ch-cornouaille.fr.
authors.forename: Rémy
authors.initials: R
authors.lastname: Bernard
authors.affiliation: C.H.R.U. Brest, Hôpital Morvan, Service de Pédiatrie et de Génétique Médicale, Brest, France. Electronic address: philippe.parent@chu-brest.fr.
authors.forename: Philippe
authors.initials: P
authors.lastname: Parent
authors.affiliation: C.H.R.U. Rennes, Laboratoire de Génétique Moléculaire, Rennes, France. Electronic address: martine.blayau@chu-rennes.fr.
authors.forename: Martine
authors.initials: M
authors.lastname: Blayau
authors.affiliation: C.H.R.U. Nantes, Laboratoire de Génétique Moléculaire, Nantes, France. Electronic address: sebastien.schmitt@chu-nantes.fr.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Schmitt
authors.affiliation: Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France; C.H.R.U. Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire, Brest, France. Electronic address: emmanuelle.genin@inserm.fr.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Génin
authors.affiliation: Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France; C.H.R.U. Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire, Brest, France. Electronic address: claude.ferec@univ-brest.fr.
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
authors.affiliation: Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address: virginie.scotet@inserm.fr.
authors.forename: Virginie
authors.initials: V
authors.lastname: Scotet
mesh_terms: D000328:Adult; D002755:Choice Behavior; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000523:psychology; D005192:Family Health; D005260:Female; D005602:France / Q000453:epidemiology; D006580:Genetic Carrier Screening / Q000379:methods / Q000706:statistics & numerical data; D005817:Genetic Counseling / Q000523:psychology*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000523:psychology / Q000706:statistics & numerical data; D060728:Reproductive Health; D018570:Risk Assessment / Q000379:methods
keywords: CFTR; Cascade carrier testing; Cystic fibrosis; Genetic counseling; Predictors