The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
Menée en Angleterre à partir du séquençage de l'ADN extrait d'échantillons tumoraux et d'échantillons sanguins prélevés sur 36 enfants atteints d'un cancer (âge : 0 à 16 ans ; 22 garçons et 14 filles), cette étude analyse la présence d'anomalies génétiques, examine la possibilité de centraliser les données génomiques dans une pratique clinique de routine puis évalue l'utilité clinique de cette centralisation
Background : Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all children with cancer. This approach was piloted during the 100,000 genomes (100 K) project. Here we share the experience of the East of England Genomic Medicine Centre (East-GMC), reporting the feasibility and clinical utility of centralised WGS for individual children locally.
Methods : Non-consecutive children with solid tumours were recruited into the pilot 100 K project at our Genomic Medicine Centre. Variant catalogues were returned for local scrutiny and appraisal at dedicated genomic tumour advisory boards with an emphasis on a detailed exploration of potential clinical value.
Results : Thirty-six children, representing one-sixth of the national 100 K cohort, were recruited through our Genomic Medicine Centre. The diagnoses encompassed 23 different solid tumour types and WGS provided clinical utility, beyond standard-of-care assays, by refining (2/36) or changing (4/36) diagnoses, providing prognostic information (8/36), defining pathogenic germline mutations (1/36) or revealing novel therapeutic opportunities (8/36).
Conclusion : Our findings demonstrate the feasibility and clinical value of centralised WGS for children with cancer. WGS offered additional clinical value, especially in diagnostic terms. However, our experience highlights the need for local expertise in scrutinising and clinically interpreting centrally derived variant calls for individual children.
British Journal of Cancer , article en libre accès, 2022