Genetic Disease Clinical Trial
Official title:
Intérêt de la réinterprétation Des CNV de Signification Inconnue Mis en évidence Par ACPA
We aim to assess the usefulness of systematic reinterpretation of CNV of unknown significance. To investigate this question we will study all CNV of unknown significance detected between 2010 and 2017.
Array-CGH is a front-line technique in many genetic indications in both prenatal and
postnatal settings. It allows the detection of chromosomal rearrangements (duplication or
deletion for example) in routine. The interpretation and classification of these copy number
variations or CNVs is essential but complex. It requires a systematic and methodical analysis
of the variation in the context of the scientific literature. When these revisions do not
meet either pathogenicity or benignity criteria, they are referred to as variation of unknown
significance (or VUS). They account for a significant proportion of the revisions up to 75%
(Palmer et al., 2013).
The detection of VUS does not, in most cases, allow for a diagnosis and often requires the
use of other, costly techniques. The human impact may also be significant in the absence of
possible genetic counselling (e.g. in the context of a future pregnancy). Reanalysis of an
VUS is of major interest for at least two reasons : (1) the first, if it is classified as
benign, makes it possible to close the investigation of the variant, to consider other leads
without ulterior motives, and to reassure the patient about the absence of pathogenicity of
the variant. (2) if the VUS is ultimately pathogenic, this makes it possible to name the
disease for the patient, to specify genetic counselling, to avoid further long and costly
investigation and possibly to propose treatment.
Currently, VUS can be reanalysed by the laboratory at the request of the prescribing
physician or possibly another physician. However, no systematic reanalysis procedure is
currently in place.
Although these variations of unknown meanings are frequent and represent an important issue,
to our knowledge, no systematic database study has been carried out. Some similar work has
nevertheless been carried out over a shorter period or on an ad hoc basis, showing an
interest in this type of approach (Palmer et al., 2014).
Indeed, it seems essential to determine the interest of reanalysing such variations in
several modes: diagnostic, economic and human.
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