The All Wales Genetic Laboratory (AWGL) has been a UK leader delivering precision medicine molecular pathology services for cancer patients since 2009. The drive to continue to improve, standardise and future-proof the genomic service we provide to patients has led the laboratory to launch the CYSGODI service which replaces the current solid tumour next generation sequencing multi-gene panel (PanCancer Panel), and in due course will incorporate the current haemato-oncology next generation sequencing multi-gene panel (TruSight Myeloid Sequencing Panel).
The following information is designed as an introduction to how the panel works, the range of findings that can be reported and a timeline for implementation of the panel.
The CYSGODI service uses the TruSight Oncology 500 High-Throughput assay which facilitates the simultaneous detection of single nucleotide variants, copy number variants, structural variants (gene fusions), MSI and TMB from DNA in 523 genes and RNA in 55 genes. The assay also allows flexible batching of samples from 16 to 192 samples per sequencing flow cell on the NovaSeq 6000. Further flexibility is provided by the ability of the assay to concurrently sequence DNA and RNA extracted from formalin fixed paraffin embedded tissue (FFPE), bone marrow and leukaemic blood samples.
It is important to note that variants from all 523 genes will NOT be reported for individual tumour types.
Implementation of the CYSGODI service will future proof the somatic next generation sequencing service as emerging biomarkers are included in the assay. It will also enable Welsh patients and clinicians access to appropriate clinical trials.
The full gene list and further information on the assay can be found here.
A phased implementation of the CYSGODI service is planned:
August 2021: Replacement of the PanCancer Panel with TruSight Oncology 500 for referrals of lung cancer, colorectal cancer, melanoma, gastrointestinal tumours, thyroid tumours and gliomas.
October 2021: Launch of a new genomic service for prostate cancer and angioimmunoblastic T cell lymphoma
January 2022: Transfer of the TruSight Myeloid Sequencing Panel to TruSight Oncology 500 for referrals from patients with a myeloid malignancy or chronic lymphocytic leukaemia.
February 2022 onwards: addition of new tumour types, new haematological referrals and validation of MSI and TMB as required.
For more detailed information about this service please find the service information sheet here and supplmentary information here.