[Comparative genomic hybridization array (CGHA) analysis in postnatal context]

Elachi W, David D, Carbonneil C
Record ID 32018013882
French
Original Title: Analyse chromosomique sur puce à ADN (ACPA) en contexte postnatal
Authors' objectives: 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.
Authors' results and conclusions: On the basis of the compiled and reviewed data, HAS has approved the reimbursement of this procedure: - as a first-line in the diagnostic of: neurodevelopmental disorders (syndromic or nonsyndromic intellectual disability, syndromic or nonsyndromic learning disability, autism spectrum disorders, in particular when associated with intellectual disability, epilepsy, in particular when associated with a neurodevelopmental disorder, and polymalformative syndromes); - as a second-line approach on a case-by-case basis: in the diagnosis of abnormal growth, isolated malformation and neonatal hypotonia; or to check a CNV detected using another technology, characterise chromosomal rearrangement identified by karyotype and test families to identify the hereditary or de novo nature of a rearrangement observed in a child. Figure 5 contained in the conclusions (section 6) summarises the role of CGHA in the diagnostic strategy of the different clinical contexts discussed in the report.
Authors' recommendations: This report recommends (section 6) a number of implementation conditions concerning the information required with the prescription, the procedure setting, the minimum CGHA resolution level, information to be contained in the report, contexts for which family testing is required for index case diagnosis, pooling of CGHA results in reference databases to facilitate interpretation, and information to be given to the patient
Authors' methods: The method used for this assessment was based on a critical analysis of the summarised literature (17 clinical practice guidelines, five health technology assessment reports and two systematic reviews) identified by a systematic search and selected on the basis of explicit criteria, collection of the collective opinion of relevant professional bodies, patient and user associations, as well as the collection of observations from public health institutions.
Details
Project Status: Completed
URL for project: https://has-sante.fr/jcms/p_3453213/fr/analyse-chromosomique-sur-puce-a-adn-acpa-en-contexte-postnatal
URL for protocol: https://has-sante.fr/jcms/p_3066998/fr/evaluation-de-l-analyse-chromosomique-sur-puce-a-adn-acpa-en-cancerologie
Year Published: 2023
URL for published report: https://has-sante.fr/upload/docs/application/pdf/2023-07/rapport_acpa_postnatal.pdf
Requestor: Healthcare professionals, patients/consumers, manufacturers, public health institutions.
URL for additional information: https://has-sante.fr/upload/docs/application/pdf/2023-07/annexes_au_rapport_acpa_postnatal.pdf
English language abstract: There is no English language summary available
Publication Type: Rapid Review
Country: France
MeSH Terms
  • Comparative Genomic Hybridization
  • Genome, Human
  • Genetic Testing
  • Oligonucleotide Array Sequence Analysis
  • Molecular Diagnostic Techniques
  • Autism Spectrum Disorder
  • Mental Disorders
  • Neurodevelopmental Disorders
  • Developmental Disabilities
  • Epilepsy
  • Intellectual Disability
Keywords
  • oligonucleotide array sequence analysis
  • comparative genomic hybridization
  • microarray analysis
  • DNA copy number variations
  • CGH array
  • Genetic Testing
  • Molecular Diagnostic Techniques
  • neuropsychiatric disorders
  • congenital abnormalities
  • mental disorders
  • autistic disorder
  • intellectual disability
  • developmental disabilities
  • epilepsy
  • postnatal
Contact
Organisation Name: Haute Autorité de Santé
Contact Address: 2 avenue du Stade de France, 93218 Saint-Denis La Plaine Cedex, France. Tel: +33 01 55 93 71 88; Fax: +33 01 55 93 74 35;
Contact Name: has.seap.secretariat@has-sante.fr
Contact Email: has.seap.secretariat@has-sante.fr
Copyright: <p>Haute Autorite de Sante/French National Authority for Health (HAS)</p>
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.