Summary

Summary

  • The technology described in this briefing is a next-generation sequencing (NGS)-based panel, used to sequence genetic mutations in solid tumour cancers in children.

  • The innovative aspects are that it was developed with input from a wide range of experts, so it is highly optimised and tailored specifically to solid tumours in children.

  • The intended place in therapy would be in addition to standard care, or as a replacement to less extensive gene testing, to expand the level of genomic analysis in children with solid tumour cancers.

  • The main points from the evidence summarised in this briefing are from 1 UK analytical validity and diagnostic accuracy study that included a total of 132 samples, in a genomics laboratory, using clinical samples from laboratories worldwide. This showed that the NGS panel detected 94 of 95 (98.9%) well-characterised genetic abnormalities in 33 clinical specimens and 13 cell lines.

  • Key uncertainties around the evidence or technology are that the technology is still in early development, so the evidence base is not fully established. Further evidence generation is planned and in progress.

  • The cost of the NGS panel varies according to sample throughput, but is estimated to be £346 to £651 per patient (excluding VAT). The resource impact would be initially cost-incurring, but using the NGS panel could lead to the development of targeted therapies using biological agents or targeted drugs for cancer in children.