[Genetic testing in asymptomatic minors: A survey ... [Arch Pediatr. 2010] - PubMed result

Arch Pediatr. 2010 May 6. [Epub ahead of print]

[Genetic testing in asymptomatic minors: A survey among French geneticists.]
[Article in French]

Joly L, Thauvin-Robinet C, Huet F, Pinoit JM, Contrain A, Cassini C, Coron F, Gautier E, Bonin B, Gargiulo M, Heron D, Dürr A, Faivre L; pour le groupe de génétique prédictive et le groupe de réflexion autour du diagnostic présymptomatique chez les mineurs.

Centre de génétique et centre de référence maladies rares anomalies du développement et syndromes malformatifs, hôpital d'Enfants, CHU de Dijon, 10, boulevard Maréchal-de-Lattre-de-Tassigny, 21034 Dijon cedex, France.

Abstract
Since their introduction, genetic tests have been carefully considered, with special attention to the release of information about the test and test results, the confidentiality of genetic information, the request and its motivation, and the psychological impact of the test. Careful consideration is needed when family members at risk are asymptomatic children or adolescents. Cautious reflection is warranted on whether and under which conditions genetic testing should be performed. Here, we report on the results of a survey conducted in France among 50 geneticists questioned on their opinions and practices concerning presymptomatic testing in three groups of diseases: those for which a medical benefit exists during childhood (e.g., retinoblastoma), diseases with onset during childhood for which there are no immediate medical consequences (e.g., type II/III spinal muscular atrophy), and those with onset during adulthood for which there is no medical benefit during childhood (e.g., Huntington disease). Guidelines are proposed: presymptomatic testing should not be performed in a minor without individual and direct information, all requests for presymptomatic genetic testing concerning a disease with onset in adulthood should be postponed, and all presymptomatic test requests for a minor should be addressed to a multidisciplinary team. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

PMID: 20452194 [PubMed - as supplied by publisher]

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[Genetic testing in asymptomatic minors: A survey ... [Arch Pediatr. 2010] - PubMed result