Southampton To Help With Pioneering DNA Project

22 December 2014, 07:21 | Updated: 22 December 2014, 10:30

Southampton General Hospital's going to be one of 11 centres, which will help map the genetic codes of 100,000 patients for a pioneering project.

The Genomic Medicine Centres (GMC) are the heart of the 100,000 Genomes Project. Scientists and doctors hope the £300 million initiative will transform medicine by uncovering DNA data that can be used to develop personalised diagnostic procedures and drugs.

More than 100 patients with cancer and rare inherited diseases have already had their genomes sequenced during the project's pilot phase.

The first wave of GMCs will be linked to NHS trusts in 11 locations covering Southampton, London Manchester, Oxford, Birmingham, Cambridge, Exeter and Newcastle.

Ultimately the aim is to secure the participation of more than 100 NHS trusts over the project's three-year lifespan.

Combining information from DNA samples with patients' health records will improve the prediction and prevention of cancers and rare diseases, experts believe.

It should also aid the development of more targeted diagnostic tests and drug treatments tailored to patients' genetic make-up.

Although strict security measures are in place to protect the identity and private details of patients, universities and drug companies will be allowed to use the data for research.

With agreement, samples of tissue from tumours and bloods tests will be collected from patients receiving treatment at hospitals from around the Wessex region, which incorporates Hampshire, the Isle of Wight, Dorset, Wiltshire and parts of Sussex, Surrey and Somerset.
The samples will be sent securely to a centre run by gene sequencing specialists Illumina, who have been procured by Genomics England to sequence the whole genome and analyse it. The results will then be sent back to the Southampton centre to help clinicians make diagnostic and treatment decisions.
“This project has the potential to transform the future of healthcare and we are delighted many patients from across the south can be involved and will benefit from it,” explained Professor Karen Temple, a clinical geneticist at UHS and co-lead for the Wessex NHS GMC.
“All the teams and individuals involved are ready to take on the big task of understanding what a genome can tell us and introducing genomes into clinical practice.
“It will improve the prediction and prevention of disease, enable new and more precise diagnostic tests and allow personalisation of drugs and other treatments to specific genetic variants.”
Prof Temple, who is also a professor of medical genetics at the University of Southampton, added:

“This means that, for some participating patients, there will be a conclusive diagnosis that can be reached for a rare and inherited disease that was not possible before. Treatment for cancer will now be targeted at the particular genetic changes that are present which will improve outcomes.
“For other patients, the benefit may take time while we understand what the genome can tell us about the influence of genetics on disease. The project will lead to an intensive research effort to understand more, which will involve close working between clinical staff and researchers.”

Life Sciences Minister George Freeman described the establishment of the centres as ``historic''.

He said:

``By launching the NHS Genomic Medicine Centres across the country, genomics goes from being something done in specialised laboratories to something that is beginning to be relevant to patients across the NHS, across the country.

``We can move from practising one size fits all medicine to beginning to do targeted, stratified, and ultimately precision and potentially preventative medicine - therapies that prevent disease rather than treating disease after its occurred. It's a very powerful technology.

``That's why we want Britain to lead and we've invested in the deep science; the first nation on Earth to sequence the whole genome of patients at scale and to combine it with the clinical data which we have at the heart of the NHS.

``This is now going mainstream into our health service. Patients in the system can today start to see the benefits of genomic analysis.''

Between 50,000 and 75,000 men, women and children are expected to participate in the project and have their genomes sequenced.

Cancer patients will contribute two genomes, one from blood and another from a tumour sample. Genomes will also be sequenced from the close relatives of patients with inherited diseases.

To start with the project will focus on five common cancers - breast, bowel, ovarian, lung and CLL leukaemia - and 110 inherited conditions.

Suitable patients will be identified by their clinicians and put forward for genome sequencing after giving their informed consent. Patients can change their mind about participating at any time.

Information that has a bearing on treatment will be offered to patients if they want it, but not uncertain risk assessments such as the likelihood of developing Alzheimer's.

Professor Mark Caulfield, chief scientist at Genomics England, the Department of Health company set up to deliver the project, strongly defended the decision to let drug companies have access to the data.

``It is absolutely vital if you want to develop maximum benefit from this project that we encourage industry to join us in this,'' he said. ``There's no university in the land that can develop a medicine on its own.''

But he pointed out that drug companies would be restricted to using the facility like a reading library. They would be able to work with data, but not take it away.

A US company, Illumina, will carry out the actual sequencing using technology invented by British scientists at Cambridge University.

The human genome consists of more than three billion chemical units or ``base pairs'' that make up the letters of the genetic code - abbreviated to A, T, C, and G.

The way the letters pair up on both sides of the double-helix DNA molecule shapes the genome sequence. Mistakes in the pairing can lead to disease.

Cancer treatments are at the forefront of progress in genetic-based personalised medicine.

Tumours are caused by DNA mutations that allow abnormal cells to grow unchecked. Research has shown that individual cancer types come in many different strains, often dependent on different genetic variants and biological pathways. Breast cancer, for instance, can be seen not as one disease but at least 10.

The breast cancer drug Herceptin was one of the first cancer treatments to be targeted at patients with a specific genetic make-up. It is only effective in patients who have an over-active Her 2 gene.

The full list of first wave Genomic Medicine Centres is as follows: 

- Wessex NHS GMC - designated for both cancer and rare disease. Led by University Hospital Southampton NHS Foundation Trust.

- East of England NHS GMC - designated for both cancer and rare disease. Led by Cambridge University Hospitals NHS Foundation Trust.

- South London NHS GMC - designated for both cancer and rare disease. Led by Guy's and St Thomas' NHS Foundation Trust.

- North West Coast NHS GMC - designated for both cancer and rare disease. Led by Liverpool Women's NHS Foundation Trust.

- Greater Manchester NHS GMC - designated for both cancer and rare disease. Led by Central Manchester University Hospitals NHS Foundation Trust.

- University College London Partners NHS GMC - designated for both cancer and rare disease. Led by Great Ormond Street Hospital NHS Foundation Trust.

- North East and North Cumbria NHS GMC - designated GMC for rare disease only. Led by The Newcastle upon Tyne Hospitals NHS Foundation Trust.

- Oxford NHS GMC - designated for both cancer and rare disease. Led by Oxford University Hospitals Foundation Trust.

- South West Peninsula NHS GMC - designated for both cancer and rare disease. Led by Royal Devon & Exeter NHS Foundation Trust.

- Imperial College Health Partners NHS GMC - designated for both cancer and rare disease. Led by Imperial College Healthcare NHS Trust.

- West Midlands NHS GMC - designated for both cancer and rare disease. Led by University Hospitals Birmingham NHS Foundation Trust.