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ePoster Display

29P - All Wales Medical Genomics Service: Implementation of a comprehensive DNA and RNA next generation sequencing panel to transform Welsh cancer diagnostics for solid and haematological cancers


16 Sep 2021


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Targeted Therapy

Tumour Site


Rhian White


Annals of Oncology (2021) 32 (suppl_5): S361-S375. 10.1016/annonc/annonc684


R. White1, S. Morgan2, N. Haines1, S. Lewis1, S. Wood1, E. Waskiewicz1, L. McCluskey1, M. Fealey1, H. Roberts2

Author affiliations

  • 1 All Wales Medical Genomics Service, University Hospital of Wales (UHW) - Cardiff and Vale University Health Board (CVUHB) - NHS Wales, CF14 4XW - Cardiff/GB
  • 2 All Wales Medical Genomics Service, University Hospital of Wales (UHW) - Cardiff and Vale University Health Board (CVUHB) - NHS Wales, CF14 4AY - Cardiff/GB


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Abstract 29P


The All Wales Medical Genomics Service (AWMGS) provides cancer genomic testing (solid tumours and haematological cancers) to all NHS Wales Health Boards, serving a population of 3.5 million people, using multiple NGS panels and a range of other genomic assays e.g. FISH, ddPCR. As part of a continuous service improvement programme, the existing testing strategy was evaluated and a redesign was proposed to enable standardisation of the technical and analysis pathways, ensuring scalability and futureproofing of this rapidly expanding service. To support the proposed redesign, suppliers were invited to tender for the procurement of a comprehensive somatic NGS panel for sequencing on the Illumina NovaSeq 6000™ . The chosen solution (Illumina TruSight Oncology 500) met the required tender scope and additionally indicated significant improvements to the proposed service may be achieved by facilitating the detection of structural variants (SVs), single nucleotide variants (SNVs) and copy number variants (CNVs) using a single workflow.


Developing the new service required the implementation of additional IT infrastructure, a new bioinformatics solution, in-house validation of the Illumina TSO500 panel and the development of novel reporting pathways.


The Illumina TSO500 panel test performance was measured against a comprehensive set of key performance indicators, and importantly, results were compared to ongoing AWMGS standard of care diagnostic NGS panel results to ensure concordance. Results presented will include the assessment of the panel to detect SVs, SNVs and CNVs at a range of DNA and RNA input concentrations for multiple sample types, including formalin fixed paraffin embedded tissue (FFPE), bone marrow samples and peripheral blood samples.


The redesign of the existing solid tumour and haem services has involved joint working between NHS, academic and commercial partners. Validation results have shown that the new service can introduce significant diagnostic service improvements that will facilitate the delivery of an efficient rapid genomic testing service for cancer patients in Wales.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.


Has not received any funding.


All authors have declared no conflicts of interest.

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