Implications for the colorectal surgeon following the 100 000 Genomes Project

Frank D McDermott, Katy Newton, Andrew D Beggs, Susan K Clark

Research output: Contribution to journalArticlepeer-review


AIM: The 100 000 Genomes Project was completed in 2019 with the objective of integrating genomic medicine into routine National Health Service (NHS) clinical pathways. This project and genomic research will revolutionize the way we practice colorectal surgery in the 21st century. This paper aims to provide an overview of genomic medicine and its implications for the colorectal surgeon.

RESULTS: Within NHS England, consolidation has created seven regional Genomic Laboratory Hubs. DNA from solid tumours, including colorectal cancers, will be assessed using 500-gene panels, results will be fed back to Genome Tumour Advisory Boards. Identifying variants from biopsies earlier in the clinical pathway may alter surgical and other treatment options for patients. However, there is an important distinction between somatic variants within a tumour biopsy and germline variants that may suggest a heritable condition such as Lynch syndrome. Novel drugs, for example immunotherapy, will increase treatment options including downstaging cancers and changing the surgical approach. The use of circulating tumour DNA (liquid biopsies) will have applications in diagnosis, treatment and surveillance of cancer. There are many exciting potential future applications of this technology for offering personalized medicine that will require multidisciplinary working and the colorectal community.

CONCLUSION: There are many challenges but also exciting opportunities to embed new 'omic' technologies and innovation into 21st century colorectal surgery. The next phase for the colorectal community is how we engage with this change, with questions around training, identification of genomic multidisciplinary team (MDT) champions and how we collaborate with the core members of the MDT, clinical geneticists and national genomic testing.

Original languageEnglish
Pages (from-to)1049-1058
Number of pages10
JournalColorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
Issue number5
Early online date20 Jan 2021
Publication statusPublished - May 2021

Bibliographical note

© 2021 The Association of Coloproctology of Great Britain and Ireland.


  • Genomics
  • epigenetics
  • personalised medicine


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