West London Genomic Medicine Centre

Imperial College Healthcare NHS Trust is the lead site for West London Genomic Medicine Centre, with three partners:

  • Chelsea and Westminster Hospital NHS Foundation Trust
  • Royal Brompton & Harefield NHS Foundation Trust
  • The Royal Marsden NHS Foundation Trust

Together we form one of eleven Genomic Medicine Centres (GMCs) which have been designated by NHS England to contribute to the delivering of the 100,000 genomes partner as a recruitment centre.

The 100,000 genomes project was launched by the Prime Minister in 2012 and its aim is to sequence 100,000 genomes from around 75,000 people. Participants 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. 

The programme is led by Genomics England, a company wholly owned and funded by the Department of Health, which has four aims:

  • Create an ethical and transparent programme based on consent
  • To bring benefit to patients and set up a genomic medicine service for the NHS
  • Enable new scientific discovery and medical insights
  • Kick start the development of a UK genomics industry

FAQs

If you are one of our patients with cancer or a rare disease and are interested in participating, please speak to your clinician. If would like more information about this programme, please get in touch.

What is a genome?

You have a complete set of genes in almost every healthy cell in your body. One set of all these genes is called a genome. When there is a change to the normal sequence, it often results in a change in the cell’s function—this is what we term a mutation. Genomics is the study of the whole genome and how it works.

In April 2003 the Human Genome Project first mapped a genome—a complete genetic code of a human being.

Click the image to view the 100,000 Genome Project infographic.

What is West London Genomic Medicine Centre doing?

The project focuses on two main groups: patients with a rare disease (and their families) and patients living with common cancers.

These areas have been selected because eligible rare diseases and cancer are strongly linked to changes in the genome. By understanding these changes, there is potential to better understand how the disease develops and which treatments will be most effective.

Cancer

In the UK, nearly 160,000 people died from cancer in 2011 with over 330,000 new cases reported every year. Because cancer is more likely to occur as people get older, we expect the number of cancer cases to rise as people live longer.

Cancer begins because of changes in genes within a normal cell. Although the cell initially has the same DNA sequence as the patient, the genetic material develops mutations or changes to make the cell cancerous. These cancerous cells then reproduce, eventually developing into a tumour. By taking DNA from the tumour and DNA from the patient’s normal cells and comparing them, the precise changes are detected.

Rare diseases

Although cases of rare diseases are uncommon, one in 17 people will be affected (six to seven per cent of the UK population). 80 per cent of rare diseases are genetic diseases.

As genes are a combination of the individual’s parents’ genes, for rare disease patients a sample is taken from both the individual with the rare disease and two of their closest relatives, for example their mother and father. The project will then look at similarities and differences between the sets of genes, in a bid to understand how the disease develops.

Why are you sequencing genomes?

It is important for future treatment of illness that we understand the genetic change that may be causing them. This will help us understand the disease and develop potential treatments.

At least 80 per cent of rare diseases are caused by changes in the DNA sequence, with half of all new cases found in children. Knowledge of the whole genome sequence may identify the cause of some rare diseases and help point the way to new life-saving treatments for these devastating conditions – vital progress given that some rare diseases take two or more years just to identify. It is hoped that some patients with rare disease will be given a diagnosis through the project.

From a medical standpoint, this programme will provide a huge amount of data on subject matter we are still learning about. This data will help health, pharmaceutical and biotechnology organisations to develop new diagnostics, medicines and treatments.  By understanding the biology of cancers, we hope to be able to target treatment more effectively and provide the right treatment to the right patient at the right time.

Questions about the study

Some of the common questions that patients have about the study are:

Is this a clinical trial? Will participating improve my treatment?

Many patients and members of the public are familiar with medical research in the form of clinical trials, in which they will receive different treatment if they participate. It is important that we are clear that this project is not a clinical trial and will likely not affect their treatment plan. Patients should be made aware that donating a sample will contribute to a long-term project which has the potential to improve our understanding and how we treat genetic diseases for future generations. Of course, in the unlikely circumstance that the genetic sequencing provides information that could improve the patient’s treatment; the information will be fed back to the patient’s doctor.

Is my information safe? Where will my information be stored?

Patient confidentiality and protection is a cornerstone of the 100,000 Genomes project. In line with this, a key feature of the project is that individual level data will not be released, but will instead be analysed within a secure, monitored environment akin to a reading library (that is where books cannot be taken away but must be read in situ in a monitored environment).  Approved researchers will have access to data under strict, monitored conditions. The data of each individual cannot be removed from Genomics England data centre by researchers.

Who will have access to this data?

NHS clinicians will have access to data on participants in their care. They will already have most of this information, but the genome data, and the results of analysis, may lead to a new diagnosis or a different course of treatment.  

Researchers will be allowed access to de-identified subsets of the data, for approved research purposes, within a secure, monitored data environment. Both academic and industrial researchers will be given access to this data.  It is important that Genomics England provide industry users with access to the data because if new diagnostic tests and treatments are to come from this project, they will need to be developed, as they always have been, by the private sector and not within government or the NHS.

Will my information be used for marketing? I already get hassled by PPI companies who have my data.

Under no circumstances will data held by Genomics England be used for marketing purposes.  This would be in strict violation of Genomics England’s Data Access and Acceptable Uses Policy and against their approved research ethics protocol.

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