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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Mathilde Lefebvre 1 Damien Sanlaville 2 Nathalie Marle 3 Christel Thauvin-Robinet 4, 1 Élodie Gautier 5 Salima El Chehadeh 1 Anne-Laure Mosca-Boidron 3 Julien Thevenon 4, 1 Patrick Edery 2 Marie-Pierre Alex-Cordier 6 Marianne Till 7 Stanislas Lyonnet 8, 9 Valérie Cormier-Daire 10 Jeanne Amiel 11 Anne Philippe 9 Serge Romana 12, 13 Valérie Malan 11 Alexandra Afenjar 14, 15 Sandrine Marlin 9 Sandra Chantot-Bastaraud 16 Pierre Bitoun 17 Bénédicte Heron 18 Eva Piparas 19 Fanny Morice-Picard 20, 21 Sébastien Moutton 21 Nicolas Chassaing 22 Adeline Vigouroux-Castera 23 James Lespinasse 24 Sylvie Manouvrier-Hanu 25 Odile Boute-Benejean 25 Catherine Vincent-Delorme 26 Florence Petit 27 Nathalie Le Meur 28 Michèle Marti-Dramard 29 Anne-Marie Guerrot 30 Alice Goldenberg 28 Sylvia Redon 31 Claude Ferrec 31 Sylvie Odent 32 Cédric Le Caignec 33 Sandra Mercier 32 Brigitte Gilbert-Dussardier 34 Annick Toutain 35 Stéphanie Arpin 35 Sophie Blesson 35 Isabelle Mortemousque 35 Elise Schaefer 36 Dominique Martin 37 Nicole Philip 38 Sabine Sigaudy 39 Tiffany Busa 39 Chantal Missirian 40 Fabienne Giuliano 41 Houda Karmous Benailly 41 Philippe Khau van Kien 42 Bruno Leheup 43 Claire Benneteau 43 Laetitia Lambert 43 Roseline Caumes 18 Paul Kuentz 44 Irène François 45 Delphine Héron 46, 47, 48, 49 Boris Keren 46 Elodie Cretin 50, 51, 52 Patrick Callier 3 Sophie Julia 23 Laurence Faivre 4
Abstract : Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being confronted with incidental findings (IF). In order to anticipate the ethical issues of IF with the generalization of new genome-wide analysis technologies, we questioned French clinicians and cytogeneticists about the situations they have faced regarding IF from aCGH. Sixty-five IF were reported. Forty corresponded to autosomal dominant diseases with incomplete penetrance, 7 to autosomal dominant diseases with complete penetrance, 14 to X-linked diseases, and 4 were heterozygotes for autosomal recessive diseases with a high prevalence of heterozygotes in the population. Therapeutic/preventive measures or genetic counselling could be argued for all cases except four. These four IF were intentionally not returned to the patients. Clinicians reported difficulties in returning the results in 29% of the cases, mainly when the question of IF had not been anticipated. Indeed, at the time of the investigation, only 48% of the clinicians used consents mentioning the risk of IF. With the emergence of new technologies, there is a need to report such national experiences; they show the importance of pre-test information on IF.
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Submitted on : Tuesday, March 22, 2016 - 4:18:17 PM
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Mathilde Lefebvre, Damien Sanlaville, Nathalie Marle, Christel Thauvin-Robinet, Élodie Gautier, et al.. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey. Clinical Genetics, Wiley, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩. ⟨hal-01237103⟩

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