UKCGG & CanGene-CanVar Virtual Consensus workshop on Whole Genome Sequencing for Paediatric Cancer Care - July 2022
UKCGG & CanGene-CanVar Virtual Consensus workshop on Whole Genome Sequencing for Paediatric Cancer care
- Paired germline and tumour-based whole genome sequencing has the potential to offer timely identification of potentially targetable drivers of disease, facilitating improved diagnosis and prognostication of disease as well as facilitating genomically-informed treatment decision-making. Furthermore, considering the significant contribution of heritable risk factors to paediatric cancer predisposition, this paired approach enables rapid identification of underlying constitutional genomic aberrations, which, in turn, will allow more accurate estimation of future disease risk, and facilitate early detection and risk-reducing strategies in the proband and their at-risk relatives.
- As outlined in the NHSe Genomic Testing directories, paired germline and tumour-based whole genome sequencing is available for certain indications, after appropriate pre-test counselling of patient and completion of record of discussion by trained personnel. Reconfiguration of services in Scotland, Wales and Northern Ireland is underway, with a view to aligning test types and indications with the NHSe directories.
- The most recent iteration of the NHSe National Test Directories (April 2022) indicates that paired germline and tumour-based whole genome sequencing will be available for all malignant tumours* diagnosed in paediatric (aged up to 25 years of age) patients (*excluding certain subtypes of sarcoma). Anecdotally, there have been reports of challenges in implementing pathways to enable WGS, as well as challenges related to reporting of germline findings. Furthermore, different regions reported varying degrees of success in implementation of this new pathway.
- To address these issues, the UK Cancer Genetics Group (UKCGG), in collaboration with CanGene-CanVar organised a national workshop, held via Zoom on 14th July 2022. UK Cancer Genetics Leads and Genetic Counsellors, Somatic and Germline Clinical Scientists, Pathologists, Paediatric Oncologists and Clinical Nurse Specialists were invited to attend. Please see the links here below for a copy of the agenda, a summary of the discussions from the meeting, a list of delegates and recordings of the presentations.
pWGS consensus meeting - recordings of expert talks
Over the course of the session, we had talks from a number of experts. Given the nature of rare disease, the unique nature of the case studies described in some of the presentations are such that they may be identifiable, and therefore were not recorded. Those talks not including any patient-related information were recorded. Please see links to the recordings to these talks here below.
