Learn more about how genetic medicine can help us personalise medical treatment.
Genomic medicine, sometimes also known as personalised medicine, is a way to customise medical care to your body's unique genetic makeup. By interpreting the genetic information of individual patients, in the future, healthcare professionals will be able to more accurately diagnose certain conditions and ‘personalise’ the treatment they provide.
Each of the cells in your body contains genes, inherited from your parents, which determine how your body looks and functions. Genomic medicine looks at genetic information alongside diagnostic information (if you develop a disease, if medicine is effective, etc.) to find patterns in disease and response to treatment. For example, if we take a large group of people with a condition, we may find only those with a certain genetic mutation respond well to a treatment, while for the rest the treatment is not effective. This finding would allow us to personalise treatment instead of using a ‘one size fits all’ approach.
Breast cancer and genomic medicine
The shift towards genomic medicine is already underway. For example, we know there are four genes linked to breast cancer. Everyone has these genes but studies show that if there is a mutation in them, that the risk of getting breast cancer rises from 10 to 12 per cent to 50 to 85 per cent. Knowing this fact allows us and other health care providers to better screen women at risk of developing breast cancer or even to undertake risk-reducing treatment. For more information about this case study, please visit NHS Choices.
100,000 Genomes Project
One of the main ways we are developing our use of genomic medicine is through the 100,000 Genomes Project. The 100,000 Genomes Project was launched by the Government in 2012 in efforts to start up a new genomic medicine service for the NHS – to transform the way people are cared for. To do this, scientists and clinicians are aiming to sequence the genomes of thousands of NHS patients to better understand which genetic changes in the body cause disease. The Trust is helping participating in the 100,000 Genomes Project as the lead organisation for West London Genomics Medicine Centre, a recruitment centre.
Read more about our role in the West London Genomic Medicine Centre.
What is a genome?
Most cells in the human body have a complete set of genes. A genome is one whole set of all your genes plus the DNA between your genes. We know the position of most of the genes in the body and this has been mapped into what’s known as a ‘reference sequence’. By comparing an individual’s genetic sequence to the reference sequence, scientists can see where there are differences or ‘mutations’. Some of these mutations are harmless, while others can change the way a cell functions and cause disease.
How can do you sequence a human genome?
To sequence a human’s genome, all we need is a blood sample. Your DNA is then extracted from the blood sample and loaded onto a sequencing machine. The machine determines the sequence of short pieces of DNA, 150 letters long known as ‘reads’. The ‘reads’ from the sequence are matched to the reference sequence. This is called ‘mapping’. From this ‘mapping’ exercise we can see where an individual’s genetic sequence differs from the reference sequence.
At least 80 per cent of rare diseases are caused by changes in the DNA sequence. By understanding the whole genome sequences in thousands of patients, we can begin to identify the cause of some rare diseases and help pinpoint new life-saving treatments.
What is the 100,000 Genomes Project?
The 100,000 Genomes Project was launched by the Government in 2012. It aims to sequence 100,000 genomes from around 75,000 NHS patients. The project will focus on patients with rare diseases, plus the genomes of their families, and patients with cancer. The long-term aim is to establish a new genomic medicine centre for the NHS, which will transform the way people are cared for by using genetic information to pinpoint the cause of disease, alongside the development of new and personalised treatment.
The project aims to kick start the development of a UK genomics industry alongside enabling new scientific discovery and medical insights.
Our Trust is the lead centre for the West London Genomic Medicine Centre and our role is to contribute to the 100,000 genome project by recruiting patients to take part. The centre is made up of our Trust and three other London partners:
- Chelsea and Westminster Hospital NHS Foundation Trust
- Royal Brompton & Harefield NHS Foundation Trust
- Royal Marsden NHS Foundation Trust
We are one of 13 genomic medicine centres in the country.
The West London Genomic Medicine Centre will focus on recruiting patients to be sequenced who have rare diseases, alongside their families, or who are living with common cancers. We are focusing on these disease areas as both are strongly linked to changes in DNA sequences:
- Cancer: 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 reproduce, eventually developing into tumours. By taking DNA from the tumour and DNA from the patient’s normal cells and comparing them, the precise changes can be detected. In the UK, over 330,000 new cases of cancer are reported every year.
- Rare diseases: one in 17 people will be affected by a rare disease (6 to 7 per cent of the UK population). Eighty 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. We then look at similarities and differences between the sets of genes, in a bid to understand how the disease develops.
How you can get involved
If you are one of our patients and have one of the eligible rare diseases or types of cancer and are interested in participating in this programme, please speak to the clinician responsible for your care. Alternatively you can email your questions.
What does taking part in this project involve?
To take part in this project we will ask you to provide a blood or tissue sample (depending on your condition) and to provide access to your health record. Your sample will be anonymised and sent to Genomics England where they will extract your DNA and it will then be put through a sequencing machine. For patients with a rare disease, we will ask to take a sample from two of their relatives.
How will taking part affect my care?
The main aim of taking part is to contribute to a long-term project that will help us to better understand the genetic causes of disease. Unlike clinical trials, you will not be given access to new therapies or treatment as a result of taking part. However, in the unlikely circumstance that the genetic sequencing provides information that could improve your treatment; your doctor will let you know.
How will my information be stored and used?
All information we collect will be kept in Genomics England’s secure data centre. Data on individuals will not be released and cannot be removed from the Genomics England data centre. Approved researchers will have access to anonymised sub-sets of data under strict, monitored conditions. Both academic and industrial researchers will be given access to this data. This is to allow new diagnostic tests and treatments to be developed as a result of this project – which would need to happen within the private sector and not within Government or the NHS. NHS clinicians will have access to data on participants in their care. Any genome data and the results of analysis that may lead to a new diagnosis or different course of treatment for a patient will be shared with their clinician.
Under no circumstances will data held be used for marketing purposes.
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