Skip to Main content Skip to Navigation
Journal articles

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 15 Pierre Bitoun 16 Bénédicte Heron 15 Eva Piparas 17 Fanny Morice-Picard 18, 19 Sébastien Moutton 19 Nicolas Chassaing 20 Adeline Vigouroux-Castera 21 James Lespinasse 22 Sylvie Manouvrier-Hanu 23 Odile Boute-Benejean 23 Catherine Vincent-Delorme 24 Florence Petit 25 Nathalie Le Meur 26 Michèle Marti-Dramard 27 Anne-Marie Guerrot 28 Alice Goldenberg 26 Sylvia Redon 29 Claude Ferrec 29 Sylvie Odent 30 Cédric Le Caignec 31 Sandra Mercier 30 Brigitte Gilbert-Dussardier 32 Annick Toutain 33 Stéphanie Arpin 33 Sophie Blesson 33 Isabelle Mortemousque 33 Elise Schaefer 34 Dominique Martin 35 Nicole Philip 36 Sabine Sigaudy 37 Tiffany Busa 37 Chantal Missirian 38 Fabienne Giuliano 39 Houda Karmous Benailly 39 Philippe Khau van Kien 40 Bruno Leheup 41 Claire Benneteau 41 Laetitia Lambert 41 Roseline Caumes 15 Paul Kuentz 42 Irène François 43 Delphine Héron 44, 45, 46, 15 Boris Keren 44 Elodie Cretin 47, 48, 49 Patrick Callier 3 Sophie Julia 21 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.
Document type :
Journal articles
Complete list of metadata

Cited literature [22 references]  Display  Hide  Download

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01237103
Contributor : Laurent Jonchère Connect in order to contact the contributor
Submitted on : Tuesday, March 22, 2016 - 4:18:17 PM
Last modification on : Thursday, August 4, 2022 - 5:28:01 PM

File

Genetic counselling difficulti...
Files produced by the author(s)

Identifiers

Citation

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⟩

Share

Metrics

Record views

546

Files downloads

468