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Article Dans Une Revue Frontiers in Genetics Année : 2022

The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol

1 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
2 CIC-EC - Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques
3 Equipe EPICAD (LNC - U1231)
4 DRCI - Délégation à la recherche clinique et à l'innovation [CHU Dijon]
5 CHU Pitié-Salpêtrière [AP-HP]
6 SU - Sorbonne Université
7 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
8 CIC - Centre d'investigation clinique [Nancy]
9 VITROME - Vecteurs - Infections tropicales et méditerranéennes
10 IHU Marseille - Institut Hospitalier Universitaire Méditerranée Infection
11 CIC-EC - Centre d'investigation clinique - Epidémiologie clinique [Nancy]
12 PRC - Pôle de Recherche Clinique [Paris]
13 UBFC - Université Bourgogne Franche-Comté [COMUE]
14 FHU TRANSLAD (CHU de Dijon)
15 Equipe GAD (LNC - U1231)
16 Institut de génétique médicale
17 HUS - Les Hôpitaux Universitaires de Strasbourg
18 LGM - Laboratoire de Génétique Médicale
19 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
20 Hôpital Necker - Enfants Malades [AP-HP]
21 IGDR - Institut de Génétique et Développement de Rennes
22 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
23 Centre de référence Maladies Rares CLAD-Ouest [Rennes]
24 HCL - Hospices Civils de Lyon
25 UCBL - Université Claude Bernard Lyon 1
26 CHU Rouen
27 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
28 CNRGH - Centre National de Recherche en Génomique Humaine

Résumé

Introduction: Like other countries, France has invested in a national medical genomics program. Among the four pilot research studies, the DEFIDIAG project focuses on the use of whole genome sequencing (WGS) for patients with intellectual disability (ID), a neurodevelopmental condition affecting 1–3% of the general population but due to a plethora of genes. However, the access to genomic analyses has many potential individual and societal issues in addition to the technical challenges. In order to help decision-makers optimally introduce genomic testing in France, there is a need to identify the socio-economic obstacles and leverages associated with the implementation of WGS. Methods and Analysis: This humanities and social sciences analysis is part of the DEFIDIAG study. The main goal of DEFIDIAG is to compare the percentage of causal genetic diagnoses obtained by trio WGS (including the patient and both parents) (WGS T ) to the percentage obtained using the minimal reference strategy currently used in France (Fragile-X testing, chromosomal microarray analysis, and gene panel strategy including 44 ID genes) for patients with ID having their first clinical genetics consultation. Additionally, four complementary studies will be conducted. First, a cost-effectiveness analysis will be undertaken in a subsample of 196 patients consulting for the first time for a genetic evaluation; in a blinded fashion, WGS T and solo (index case, only) genomic analysis (WGS S ) will be compared to the reference strategy. In addition, quantitative studies will be conducted: the first will estimate the cost of the diagnostic odyssey that could potentially be avoidable with first-line WGS T in all patients previously investigated in the DEFIDIAG study; the second will estimate changes in follow-up of the patients in the year after the return of the WGS T analysis compared to the period before inclusion. Finally, through semi-directive interviews, we will explore the expectations of 60 parents regarding genomic analyses. Discussion: Humanities and social sciences studies can be used to demonstrate the efficiency of WGS and assess the value that families associate with sequencing. These studies are thus expected to clarify trade-offs and to help optimize the implementation of genomic sequencing in France. Ethics Statement: The protocol was approved by the Ethics Committee Sud Méditerranée I (June 2019)—identification number: 2018-A00680-55 and the French data privacy commission (CNIL, authorization 919361). Clinical Trial Registration : ( ClinicalTrials.gov ), identifier (NCT04154891).
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hal-03678712 , version 1 (01-06-2022)

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Catherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, et al.. The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol. Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩. ⟨hal-03678712⟩
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