Royal Cornwall Hospital Trust has contributed to a revolutionary medical service for NHS patients, by recruiting their first cancer patient for the 100.000 genome project.

Royal Cornwall Hospital Trust has contributed to a revolutionary medical service for NHS patients, by recruiting their first cancer patient for the 100.000 genome project.


The project hopes to sequence 100,000 genomes from around 70,000 people, which are NHS patients with a rare disease (plus their families), and patients with cancer. The aim is to create a new genomic medicine service for the NHS, transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before and in time, there is the potential of new and more effective treatments.


In April 2003, the Human Genome Project was published, which included the complete genetic code of a human being, their genome. This was the largest international collaboration ever undertaken in biology, with British scientists leading the global race to read the human genome, which is made of DNA, letter by letter, a technique called sequencing.


To bring the predicted benefits of genomics to NHS patients, the 100,000 Genomes Project was launched in 2012. Genomics England, owned and funded by the Department of Health, was set up to deliver this flagship project which will sequence 100,000 whole genomes from NHS patients by 2017. Its four main aims are: to create an ethical and transparent programme based on consent; to bring benefit to patients and set up a genomic medicine service for the NHS; to enable new scientific discovery and medical insights; and to kick start the development of a UK genomics industry.


Royal Cornwall Hospital Trust is part of the South West Genomic Medicine Centre and attended the Cancer Launch Event in November 2016. From this, the team brought together the main stakeholders to identify, consent, obtain and process samples at RCHT. This organisational challenge involved surgeons, anaesthetists, clinical specialist nurses and the histopathology laboratory.


Matthew Hotston, Consultant Urologist for RCHT, helped identify a suitable cancer patient for this project, working closely with the histopathology team in order to process and manage samples quickly. Clinical Nurse Specialists and the wider MDT all played a role in the patient’s journey.


Cancer begins because of changes in genes within what was a normal cell. Although a cancer starts with the same DNA as the patient, it develops mutations or changes which enable the tumour to grow and spread. By taking DNA from the tumour and DNA from the patient’s normal cells and comparing them, the precise changes are detected. Knowing and understanding them strongly indicates which treatments will be the most effective.


Dr Juan Graterol, Senior Reporting Officer for the 100.000 Genome Project and Associate Medical Director for Quality Improvement for Royal Cornwall Hospital stated that he feels genomics has great potential to benefit patients with cancer. “Genomics has already started to guide and inform doctors about the best treatment for individual patients, for example with Herceptin for HER2 positive breast cancer. Many more cancer types, including those for whom there is hardly any successful current treatments, such as lung cancer, could be helped if only we knew which gene changes were important” explained Dr Graterol.“It is important for Royal Cornwall Hospital Trust to be able to deliver cutting edge treatments and technology. Patients in Cornwall should have equal access to opportunities available elsewhere in the NHS. By adapting and changing the way we treat our patients we make sure that we are ready for the future.”

The team hope to be able to look at expanding the number of patients that may be offered the opportunity to take part in this project.

Dr Graterol is extremely grateful to everyone who has been part of this project to date and hopes to be able to offer this service to other cancer areas in the Trust. “The Histopathology laboratory was incredibly efficient in making sure their processes and capacity was ready in time to accept the first sample. Clinical governance leads for Urology and Breast Surgery have been coordinating their teams to make this a reality” stated Dr Graterol.





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  1. 1

    Really well put James.
    The rise in genome research backed up by technological advances and the sheer volume of data being collected, means developments like this should be coming thick and fast over the next few years

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