Mapping the sarcoma genome

The 100,000 Genome Project was launched by the former Prime Minister, David Cameron in 2012 with the aim of sequencing 100,000 genomes of patients and their families affected by rare diseases and cancer. The hope is that it will lead to the establishment of a new genomic medicine service for the NHS – transforming the way people are cared for. It may help with diagnosis, and longer term may lead to new and more effective treatments and new medical research.

Recently, sarcoma has been added to the programme, with 500 genomes to be collected by 2017.

Sarcoma UK’s Research Advisory Committee member, Professor Adrienne Flanagan is the lead researcher for the sarcoma element of the project.

Here we give an insight into the project and what this means for sarcoma.

Why do genetic research?
Most of us have heard of genetics and how diseases can be inherited through genes passed down through our families. We know that genes work in groups and their activity is influenced by a huge variety of environmental and other factors. We also now know that the DNA between your genes is also very important. Every healthy cell in your body has a complete set of genes. One set of all these genes (plus the DNA between the genes) is called a genome. Genomics is the study of the whole genome, what it’s made up of and how it works.

What is the background to the 100,000 Genome Project?
It was launched in 2012 to sequence 100,000 whole genomes by 2017. It’s currently the largest national sequencing project of its kind in the world.

How will this project transform research?
By linking an individual’s genomic data with their medical record it can help us to understand disease and to tease apart the complex relationship between our genes, what happens to us in our lives and illness. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will be investigated.

What sarcoma subtypes are being included?
As sarcoma has an initial allocation of 500 genomes; researchers have had to be very selective about which types of sarcoma they look at. With 3,800 sarcoma cases diagnosed every year and over 130 subtypes, they need to analyse 100 samples of each type to have significant information to analyse and they should be able to glean a lot of information about the disease.

The project will look into the sarcoma subtypes of:

  • Myxofibrosarcoma
  • Leiomyosarcoma
  • Synovial sarcoma

Some exceptionally rare sarcomas have been chosen, which have only 10 cases a year in the UK, such as alveolar soft part sarcoma and spindle cell rhabdomyosarcoma.  This will help researchers to understand the disease at the genomic level and build a platform for more research to take place.

What can genomics do for patients?
Genomics can predict how well a patient will respond to a treatment or find one that will work best for them. It can also be used to test how well a cancer might respond to radiotherapy, which may mean fewer radiotherapy sessions. 

What can patients do to get involved in the 100,000 Genome Project?
As with all research, patients can ask anyone involved in their healthcare about taking part in the 100,000 Genome project. With your help, researchers can find answers sooner.