Les modifications de pratique clinique liées à l’arrivée du séquençage haut débit dans le diagnostic génétique des maladies du développement

L. Demougeot 1 F. Houdayer 2 A. Pélissier 3 F. Mohrez 3 J. Thevenon 1, 4, 5 Y. Duffourd 5, 1, 4 S. Nambot 1, 4, 5 E. Gautier 1 C. Binquet 6 M. Rossi 2 D. Sanlaville 2 S. Bejean 3 C. Peyron 3 C. Thauvin-Robinet 4, 5, 1 L. Faivre 7, 4, 5, 1, *
* Auteur correspondant
1 FHU TRANSLAD
2 Service de Génétique Clinique, Hôpital Femme Mère Enfant
3 LEG - Laboratoire d'Economie et de Gestion
4 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
5 Equipe GAD (LNC - U1231)
LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
6 CIC-EC - Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques
7 GAD - Génétique des Anomalies du Développement
Abstract : Introduction The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses. Methods Geneticists attending a clinical genetics seminar were invited to complete a questionnaire. The statistical analysis was essentially descriptive and an analysis of costs was undertaken. Results Of those responding to the questionnaire, 48% had already prescribed exome analysis and 25% had already had the occasion to disclose the results of such analyses. Ninety-six percent were aware that whole-exome sequencing (WES) had certain limits and 74% expressed misgivings concerning its use in medical practice. In parallel, the evaluation of costs showed that WES was less expensive than conventional procedures. Discussion The survey revealed that geneticists had already come to terms with HTS as early as 2015. Among the major concerns expressed were the complexity of interpreting these tests and the many ethical implications. Geneticists seemed to be aware of the advantages but also the limits of these new technologies. The cost analysis raises questions about the place of HTS and in particular WES in the diagnostic work-up: should it be used early to obtain an etiological diagnosis rather than as the last resort? Conclusion It is essential for future generations of doctors and for the families concerned to learn about the concepts of HTS, which is set to become a major feature of new genomic medicine.
Mots-clés : Developmental abnormalities Diagnosis High-throughput sequencing Genetics Genomic medicine
Type de document :
Article dans une revue
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01707800
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : mardi 13 février 2018 - 10:35:36
Dernière modification le : lundi 18 mars 2019 - 09:45:19

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UNIV-BOURGOGNE | LEG | LNC-UMR866 | LNC-GAD

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L. Demougeot, F. Houdayer, A. Pélissier, F. Mohrez, J. Thevenon, et al.. Les modifications de pratique clinique liées à l’arrivée du séquençage haut débit dans le diagnostic génétique des maladies du développement. Archives de Pédiatrie, Elsevier, 2018, 25 (2), pp.77-83. 〈https://www.sciencedirect.com/science/article/pii/S0929693X17305067〉. 〈10.1016/j.arcped.2017.12.006〉. 〈hal-01707800〉

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