Integrating whole genome sequencing into clinical practice for cancer patients
24 May 2022
Clinical Excellence in Surgery and Therapeutics
The 100,000 Genomes Project was a transformational UK government project, conducted within the National Health Service. One of its primary tasks was to undertake whole genome sequencing (WGS) for patients with cancer or rare or infectious diseases and perform en masse bioinformatic analysis and interpretation. A key objective was to develop the infrastructure for routine high throughput sequencing, in particular WGS, for NHS cancer patients. In parallel, it established a national research platform of molecular data with linkage to longitudinal real world clinical datasets. We successfully sequenced 16,358 tumour-normal sample pairs across 15,241 individuals who were recruited to the Cancer Programme between 2015 and 2019. This genomic data has been analysed to identify the incidence of different types of mutations, both somatic (acquired) and germline (constitutional) that have clinical significance and should now be undertaken as standard of care in managing patients diagnosed with cancer. These WGS results were subsequently discussed at a multi-disciplinary Genomic Tumour Advisory Board (GTAB) or Molecular Tumour Board (MTB) meeting to ensure further appraisal and interpretation of somatic and germline variants to determine clinical actionability and provide clinical recommendations.