The Direction Générale de l'Organisation des Soins (DGOS) and the Banque Nationale de Données Maladies Rares (BNDMR) have launched a call for a letter of commitment for the implementation of a diagnostic observatory in order to fight against diagnostic wandering and impasse. In this context, the AnDDI-Rares network proposes 3 work packages (WP) to respond to the missions entrusted to it.
Work package 1 of the diagnostic observatory includes a retrospective and prospective study to evaluate how diagnostic wandering and impasse has evolved within the network, with regard to the integration of new technologies, and the expectations of patients and their families.
Work package 2 of the diagnostic observatory includes a reassessment of sporadic copy number variations (CNV) of unknown significance of more than 1 Mb obtained since the beginning of CGH array analyses in the territory.
Work package 3 of the diagnostic observatory aims to help put an end to diagnostic wandering for patients with certain emblematic syndromes by proposing genome and RNA analysis, which provides a certain diagnosis and negative targeted molecular study.
Patients, children or adults with developmental anomalies with or without neurodevelopmental disorders,
Patients in whim a de novo CNV of unknown significance of more than 1 Mb has been detected since the implementation of the CGH array platforms
The CNV remained of unknown significance or classified as (probably) benign after reanalysis* *reanalysis other than that performed in the context of the diagnostic observatory
CNV remained of unknown significance or classified as (probably) benign after reanalysis**
Patients without a developmental abnormality ;
Patients with a previously identified diagnosis at the time of consultations on the weeks drawn randomly from 2012 and 2022.
Unlikely clinical diagnosis ;
Family not wishing to pursue molecular investigations;
Patients in a situation of diagnostic wandering or impasse
Cohort
Prospective
Questionnaire to assess expectations of a diagnosis
Other interventionDuration 45 minutes
Questionnaire to assess understanding of previously reported results and expectations of a diagnosis
Other interventionDuration 30 minutes
Blood sample +/- skin biopsy
Biological/Vaccine8 ml of blood biopsy: size 3 to 5 mm
Consultations leading to a causal genetic diagnosis in 2012 and 2022
CNVs reclassified as pathogenic/probably pathogenic or benign/probably benign.
Molecular diagnosis identified by sequencing of the genome ± associated RNA.
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