Ingrid Duguépéroux1, Carine L'Hostis2, Marie-Pierre Audrézet3, Gilles Rault4, Irène Frachon5, Rémy Bernard6, Philippe Parent7, Martine Blayau8, Sébastien Schmitt9, Emmanuelle Génin10, Claude Férec11, Virginie Scotet12. 1. Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address: ingrid.dugueperoux@univ-brest.fr. 2. Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address: carine.l-hostis@inserm.fr. 3. 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. 4. Centre de Référence et de Compétences de la Mucoviscidose, Roscoff, France. Electronic address: gilles.rault@perharidy.fr. 5. C.H.R.U. Brest, Hôpital Cavale Blanche, Service de Pneumologie, Brest, France. Electronic address: irene.frachon@chu-brest.fr. 6. C.H.I.C. Quimper, Service de Pneumologie, Quimper, France. Electronic address: r.bernard@ch-cornouaille.fr. 7. C.H.R.U. Brest, Hôpital Morvan, Service de Pédiatrie et de Génétique Médicale, Brest, France. Electronic address: philippe.parent@chu-brest.fr. 8. C.H.R.U. Rennes, Laboratoire de Génétique Moléculaire, Rennes, France. Electronic address: martine.blayau@chu-rennes.fr. 9. C.H.R.U. Nantes, Laboratoire de Génétique Moléculaire, Nantes, France. Electronic address: sebastien.schmitt@chu-nantes.fr. 10. 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. 11. 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. 12. Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address: virginie.scotet@inserm.fr.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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: Swetha Srinivasan; Nae Yeon Won; W David Dotson; Sarah T Wright; Megan C Roberts Journal: Eur J Hum Genet Date: 2020-09-18 Impact factor: 4.246