Please can you outline the 100,000 Genomes Project run by Genomics England? What are the main aims of this project and when will the genomes be sequenced by?
The project aims to sequence the specified 100,000 genomes from two types of patients: first, those who may have rare inherited diseases caused by unknown or unidentified genes; and second, people with one of several types of cancer, including colorectal cancer.
In the second project, both the cancer and paired “normal” DNA will be sequenced. The project aims to bring about a change in the use of molecular methods in routine clinical practice, to directly help people with the diseases concerned, and to benefit patients by new discoveries in medical research.
Data in the 100,000 Genomes Project (version 1.0 02/09/15)
How does the Clinical Interpretation Partnership for bowel cancer plan to use the data generated?
In a few cases, we envisage that patients will benefit directly (for example, by identifying genetic causes for their bowel cancer or finding cancers that could benefit from additional treatments).
However, we suspect that the main use of the data will be to further our understanding of how bowel cancers grow, perhaps eventually leading to entirely new treatments.
Which particular areas are you looking to increase understanding of?
We are planning to gain understanding of all areas of colorectal cancer genomics, but we have a few areas in which we may focus. These may include cancers arising in specific conditions, such as inflammatory bowel disease, or detailed studies of cancers from patients already in clinical trials.
Will you be researching the role of epigenetics in bowel cancer?
We aim to do this, although it is not specifically funded at the moment.
It was recently announced that Bowel Cancer UK will be part of the lead committee in this project. What impact will Bowel Cancer UK have?
Bowel Cancer UK provide an essential link between patients and the researchers/clinicians. They also have a particular ability to inform and involve the public in our work.
How important is it that the patient voice is represented?
The 100,000 genomes project as a whole has engaged widely with the patient community and that has informed the overall project design. We shall engage particularly on issues relating to bowel cancer, ranging from recruitment of patients, the provision of genetic information to participants and the balance of the study between different sort of bowel tumour. It goes without saying how important this dialogue is.
What do you think the future holds for bowel cancer detection and diagnosis?
Prevention remains the primary aim. Molecular advances will continue to contribute to prevention and to detection through multiple, but often unpredictable, mechanisms. A particular challenge is the localisation of sub-clinical disease that could benefit from early treatment and molecular biology could play a much larger role here.
What future developments in bowel cancer treatments do you envisage?
All knowledge about bowel cancer, especially molecular knowledge, has the potential for producing new treatments. One area for development is to use higher doses of therapies or even surgery in a more spatially focussed way.
Where can readers find more information?
For more information on Bowel Cancer UK visit www.bowelcanceruk.org.uk and for more information on Genomics England visit http://www.genomicsengland.co.uk/.
About Professor Ian Tomlinson
I am Professor of Molecular and Population Genetics at the University of Oxford. My research interests include the identification of genes that predispose to bowel cancer and cancer evolution.
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