title: [Genetic testing in asymptomatic minors: a survey among French geneticists].
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.
authors.affiliation: 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.
authors.forename: L
authors.initials: L
authors.lastname: Joly
authors.forename: C
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: F
authors.initials: F
authors.lastname: Huet
authors.forename: J-M
authors.initials: JM
authors.lastname: Pinoit
authors.forename: A
authors.initials: A
authors.lastname: Contrain
authors.forename: C
authors.initials: C
authors.lastname: Cassini
authors.forename: F
authors.initials: F
authors.lastname: Coron
authors.forename: E
authors.initials: E
authors.lastname: Gautier
authors.forename: B
authors.initials: B
authors.lastname: Bonin
authors.forename: M
authors.initials: M
authors.lastname: Gargiulo
authors.forename: D
authors.initials: D
authors.lastname: Heron
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: L
authors.initials: L
authors.lastname: Faivre
mesh_terms: D000293:Adolescent; D000328:Adult; D001291:Attitude of Health Personnel; D005260:Female; D005602:France; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D033242:Minors; D010290:Parents; D011795:Surveys and Questionnaires