Comparative genomic hybridization array (CGHA) analysis in postnatal context - INAHTA Brief

Comparative genomic hybridization array  (CGHA) analysis is a molecular cytogenetic technology that is used to detect quantitative variations of the genome, corresponding to chromosomal material losses or gains (deletions, duplications, insertions, abnormal chromosome numbers, etc.) compared to a reference diploid genome. This pangenomic technology has a substantially higher resolution than standard karyotype, which is considered as the gold standard for whole genome analysis. A request was made for an assessment of this technique by HAS, from the French Ministry of Health and the National Health Insurance, with a view to permanent cover under common law.

CGHA was previously assessed in 2019 by HAS for use in cancer care.

The aim of this assessment was to determine the current benefit of CGHA use in the postnatal context, within the scope of routine care. This involved defining the indications of interest and the role of this technology in the diagnostic strategy, in the different clinical contexts in question, as well as the conditions of its implementation.