Highlighting the impact of cascade carrier testing in cystic fibrosis families

Journal of Cystic Fibrosis - Tập 15 - Trang 452-459 - 2016
Ingrid Duguépéroux1,2,3, Carine L'Hostis1,2,3, Marie-Pierre Audrézet1,2,3,4, Gilles Rault5, Irène Frachon6, Rémy Bernard7, Philippe Parent8, Martine Blayau9, Sébastien Schmitt10, Emmanuelle Génin1,2,3,4, Claude Férec1,2,3,4, Virginie Scotet1,2,3
1Inserm, UMR 1078, Brest, France
2Univ. Brest, Brest, France
3Etablissement Français du Sang-Bretagne, Brest, France
4C.H.R.U. Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire, Brest, France
5Centre de Référence et de Compétences de la Mucoviscidose, Roscoff, France
6C.H.R.U. Brest, Hôpital Cavale Blanche, Service de Pneumologie, Brest, France
7C.H.I.C. Quimper, Service de Pneumologie, Quimper, France
8C.H.R.U. Brest, Hôpital Morvan, Service de Pédiatrie et de Génétique Médicale, Brest, France
9C.H.R.U. Rennes, Laboratoire de Génétique Moléculaire, Rennes, France
10C.H.R.U. Nantes, Laboratoire de Génétique Moléculaire, Nantes, France

Tài liệu tham khảo

Welsh, 1993, Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis, Cell, 73, 1251, 10.1016/0092-8674(93)90353-R Kerem, 1989, Identification of the cystic fibrosis gene: genetic analysis, Science, 245, 1073, 10.1126/science.2570460 Riordan, 1989, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science, 245, 1066, 10.1126/science.2475911 Rommens, 1989, Identification of the cystic fibrosis gene: chromosome walking and jumping, Science, 245, 1059, 10.1126/science.2772657 Marks, 2006, Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes, J Med Screen, 13, 156, 10.1258/096914106778440617 Baig, 2008, Prevention of beta-thalassemia in a large Pakistani family through cascade testing, Community Genet, 11, 68 Cody, 2008, Cascade screening in BRCA1/2 mutation carriers, Ir Med J, 101, 140 Helderman-van den Enden, 2011, Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?, Clin Genet, 79, 236, 10.1111/j.1399-0004.2010.01579.x Castellani, 2016, Cystic fibrosis carrier screening effects on birth prevalence and newborn screening, Genet Med, 18, 145, 10.1038/gim.2015.68 Massie, 2009, Carrier screening for cystic fibrosis, Lancet, 374, 978, 10.1016/S0140-6736(09)61662-7 Zvereff, 2014, Cystic fibrosis carrier screening in a North American population, Genet Med, 16, 539, 10.1038/gim.2013.188 Turner, 1993, Cascade testing for carrier status in cystic fibrosis in a large family, Med J Aust, 159, 163, 10.5694/j.1326-5377.1993.tb137779.x Super, 1994, Active cascade testing for carriers of cystic fibrosis gene, BMJ, 308, 1462, 10.1136/bmj.308.6942.1462 Surh, 1994, Cystic fibrosis carrier screening in a high-risk population. participation based on a traditional recruitment process, Arch Pediatr Adolesc Med, 148, 632, 10.1001/archpedi.1994.02170060086017 Sorenson, 1997, Acceptance of home and clinic-based cystic fibrosis carrier education and testing by first, second, and third degree relatives of cystic fibrosis patients, Am J Med Genet, 70, 121, 10.1002/(SICI)1096-8628(19970516)70:2<121::AID-AJMG4>3.0.CO;2-0 Borgo, 1999, Carrier testing program in a high-risk cystic fibrosis population from northeastern Italy. Active recruitment of relatives via probands' parents, Community Genet, 2, 82 Lafayette, 1999, Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis, J Genet Couns, 8, 17, 10.1023/A:1022830519602 McClaren, 2010, Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening, Eur J Hum Genet, 18, 1084, 10.1038/ejhg.2010.78 Scotet, 2002, Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960, Hum Genet, 111, 247, 10.1007/s00439-002-0788-1 Audrezet, 2015, Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy, Genet Med, 17, 108, 10.1038/gim.2014.113 Ferec, 1992, Detection of over 98% cystic fibrosis mutations in a Celtic population, Nat Genet, 1, 188, 10.1038/ng0692-188 Scotet, 2000, Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10years' experience and impact on prenatal diagnosis, Lancet, 356, 789, 10.1016/S0140-6736(00)02652-0 Hanley, 2003, Statistical analysis of correlated data using generalized estimating equations: an orientation, Am J Epidemiol, 157, 364, 10.1093/aje/kwf215 Scotet, 2008, Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France), Prenat Diagn, 28, 197, 10.1002/pd.1910 Dugueperoux, 2013, Cascade testing in families of carriers identified through newborn screening in Western Brittany (France), J Cyst Fibros, 12, 338, 10.1016/j.jcf.2012.11.009 Forrest, 2012, An audit of clinical service examining the uptake of genetic testing by at-risk family members, Genet Med, 14, 122, 10.1038/gim.2011.3 d'Agincourt-Canning, 2006, Genetic testing for hereditary cancers: the impact of gender on interest, uptake and ethical considerations, Crit Rev Oncol Hematol, 58, 114, 10.1016/j.critrevonc.2006.03.001 Harel, 2003, Adolescents and genetic testing: what do they think about it?, J Adolesc Health, 33, 489, 10.1016/S1054-139X(03)00135-6 Sweeny, 2014, Predictors of genetic testing decisions: a systematic review and critique of the literature, J Genet Couns, 23, 263, 10.1007/s10897-014-9712-9 Braekeleer, 2001, Disease knowledge in a high-risk population for cystic fibrosis, Patient Educ Couns, 43, 263, 10.1016/S0738-3991(00)00167-1 Denayer, 1992, Reproductive decision making of aunts and uncles of a child with cystic fibrosis: genetic risk perception and attitudes toward carrier identification and prenatal diagnosis, Am J Med Genet, 44, 104, 10.1002/ajmg.1320440124 Miller, 1992, Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis, Am J Public Health, 82, 236, 10.2105/AJPH.82.2.236 McClaren, 2013, Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing, Genet Med, 15, 533, 10.1038/gim.2012.175 Henneman, 2002, Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families, Am J Med Genet, 110, 324, 10.1002/ajmg.10464