Standardising genes on panels
Next Generation Sequencing (NGS) gene panel tests based on both targeted and whole exome methods include an increasingly large number of genes. In order to ensure a consistent high quality testing service, the UKGTN has sought to develop an approach that requires panels for the same or similar disorders to contain the same set of consensus genes. This provides re-assurance for patients and clinicians that samples will be tested for the same set of consensus genes wherever the testing is performed.
As part of the 100,000 genomes project, genes are reviewed for clinical validity for a specific phenotype through the PanelApp process as described on the website https://panelapp.extge.co.uk/crowdsourcing/PanelApp/.
From July 2016, the UKGTN test evaluation process was updated to include a requirement for submitting laboratories to confirm the status of the genes on their tests according to PanelApp. The aim is to ensure that there is an agreed core list of genes that has evidence for testing for specified phenotypes.