Next-generation sequencing panel for solid tumour cancers in children

Level of innovation

Applying NGS technology to a range of childhood cancers was thought to be a novel concept. Other NGS tumour panels are available, but these are mostly for adult cancers and specific childhood cancers.

Potential patient impact

The specialist commentators identified faster identification of causative mutation for disease in some children as a potential patient benefit. Not every mutation will be associated with a specific drug or intervention, but the evidence generated from the NGS panel may be used to identify novel therapeutic targets.

One commentator felt that adopting the NGS panel could lead to longer survival through more personalised cancer treatment. Another commentator gave a specific example of identifying ALK mutations, which could redirect treatment to crizotinib. They also highlighted that the main advantage of the panel is that there is no need to guess which target gene to test, because this panel tests for all of the targets simultaneously.

Potential system impact

The specialist commentators identified a number of system benefits, including more accurate diagnoses. The NGS panel test is more expensive than some individual gene tests, but it removes the need for multiple sequential testing. In can also discover gene variants that are not detectable at all using current methodologies, in a reasonable and clinically useful turnaround time. In addition, 1 commentator noted that the panel provides a unified assay that avoids the need to purchase multiple platforms and conduct serial gene tests. The equipment required for the NGS panel will be equally applicable to all gene testing. Centralisation of testing would reduce turnaround times and reduce costs, because it is more cost effective to test several samples simultaneously.

One specialist felt that, if the NGS panel were adopted, changes would be needed to local pathology pathways (for example, to ensure that the correct tissue is taken at the correct time). They also observed that the published evidence focuses on somatic mutations, and that identifying incidental germline genetic mutations may pressure tertiary clinical genetics services later in the pathway. However another specialist commented that quantifying the potential cost impact is not possible given the limited evidence base.

General comments

The specialist commentators felt that gene panel testing may eventually become standard of care, with 1 claiming the NGS panel to be the future of diagnostics. However, the commentators advised individual gene testing should be kept for quality purposes and special cases where a triage approach might be effective and timely. The expert involved in developing the technology commented that it successfully demonstrates rapid and efficient assessment, and that this has driven demand.