title: Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
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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authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, Dijon, France.|Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
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authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, Dijon, France.|Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.|FHU-TRANSLAD, Université de Bourgogne, Dijon, France.
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authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, Dijon, France.|FHU-TRANSLAD, Université de Bourgogne, Dijon, France.
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authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, Dijon, France.|Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
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authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, Dijon, France.|Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
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authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, Dijon, France.|Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.|FHU-TRANSLAD, Université de Bourgogne, Dijon, France.
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mesh_terms: D055028:Comparative Genomic Hybridization / Q000379:methods*; D030881:Disclosure / Q000941:ethics; D005260:Female; D005602:France; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling / Q000941:ethics* / Q000379:methods*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D033162:Incidental Findings; D008297:Male; D046228:Microarray Analysis / Q000379:methods; D010817:Physician-Patient Relations / Q000941:ethics; D012189:Retrospective Studies; D011795:Surveys and Questionnaires
keywords: aCGH; ethical issues; incidental findings; pre-test information