Professional article

Utilité clinique des genome boards pour les maladies génétiques complexes

Other title[Clinical utility of Genome Boards for patients with complex genetic diseases]
ContributorsHammar Bouveret, Evaorcid; Investigateurs du centre de génomique médicale (CGEM) des HUG; Abramowicz, Marcorcid
Published inRevue médicale suisse, vol. 19, no. 848, p. 2073-2079
Publication date2023-11-01

Genetic analysis using high-throughput sequencing is a powerful tool for patients with rare diseases. However, biological and clinical interpretation thereof is difficult, especially when the clinical picture is complex. Multidisciplinary Genome Boards bring together the relevant medical specialties around the patient's medical and genetic file, to optimize the correlation between phenotype and genotype. This often allows the identification of the causal genetic variant in previously unsolved cases. A retrospective study shows that Genome Boards significantly increase the diagnostic rate in complex clinical cases with difficult-to-interpret genetic analysis results, as well as facilitating collaboration between the various medical specialties involved.

  • Humans
  • Retrospective Studies
  • Genotype
  • Patients
  • High-Throughput Nucleotide Sequencing
  • Interdisciplinary Studies
  • Genomics
  • Genetics
  • Rare diseases
Citation (ISO format)
HAMMAR BOUVERET, Eva, ABRAMOWICZ, Marc. Utilité clinique des genome boards pour les maladies génétiques complexes. In: Revue médicale suisse, 2023, vol. 19, n° 848, p. 2073–2079. doi: 10.53738/REVMED.2023.19.848.2073
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Article (Published version)
accessLevelRestrictedaccessLevelPublic 05/02/2025
ISSN of the journal1660-9379

Technical informations

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