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

L. Joly, C. Thauvin-Robinet, F. Huet, J.-M. Pinoit, A. Contrain, C. Cassini, F. Coron, E. Gautier, B. Bonin, M. Gargiulo, D. Heron, A. Dürr, L. Faivre
Archives de Pédiatrie. 2010-07-01; 17(7): 1000-1007
DOI: 10.1016/j.arcped.2010.03.016

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1. Arch Pediatr. 2010 Jul;17(7):1000-7. doi: 10.1016/j.arcped.2010.03.016. Epub 2010
May 7.

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

[Article in French]

Joly L(1), 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; groupe de génétique
prédictive et le groupe de réflexion autour du diagnostic présymptomatique chez
les mineurs.

Collaborators: Babonneau ML, Belleguic M, Bouvagnet P, Caron O, Cazeneuve C,
Charron P, Colas C, Cusin V, David de A, Fellmann F, François I, Gaillard D,
Gérard M, Gilbert B, Gimenez-Roqueplo AP, Ginglinger E, Goizet C, Greffier A,
Hernandez K, Herson A, Leheup B, Lesca G, Levy F, Lalhou-Laforet K, Lejeune S,
Malzac P, Manouvrier S, Masurel-Paulet A, Nezelof S, Nivelon A, Ollagnon I,
Pierron JP, Plauchu H, Prieur F, Roume J, Roygnan C, Tourtelier L.

Author information:
(1)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, Dijon cedex, France.

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 (c) 2010 Elsevier Masson SAS. All rights reserved.

DOI: 10.1016/j.arcped.2010.03.016
PMID: 20452194 [Indexed for MEDLINE]

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