In January 2018, the NICE has published a medtech innovation briefing [MIB133] on the next-generation sequencing (NGS) panel for solid tumours in children. The technology described in this briefing is NGS-based panel, used to sequence genetic mutations in solid tumours in children. It is an in-house laboratory test, not a commercial product. It was developed at the Centre for Molecular Pathology at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust and validated in-house for clinical application, following the standardised framework.
The test provides a genetic profile from a sample of solid tumour tissue for a range of childhood cancers including glioma, medulloblastoma, bone sarcomas, soft tissue sarcomas, renal tumours and neuroblastoma. The test reports whether there are mutations within each target gene in the tissue sample, and may identify whether the child with cancer is eligible for any suitable clinical trial to have targeted treatment.
The current NGS panel design, which is being continually developed, includes 92 genes which are either recurrently altered in childhood cancers, or have clinical implications in adult cancers (and potentially childhood cancers). Specialist genetic sample processing techniques are used to identify mutations in these genes. The test takes 10 working days to complete from receipt of tumour material in the laboratory to final reporting of results.
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 tumours.
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 GBP to 651 GBP 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.