The 100,000 Genomes Project was launched by former Prime Minister David Cameron at the 2012 London Olympics. Currently, it is the largest national sequencing project of its nature in the world!

To successfully implement and deliver the project, the UK Government formed Genomics England. This is an organisation of 11 genomic centres that have invested heavily into state of the art sequencing machines, these are responsible for sequencing the 100,000 genomes from 70,000 NHS registered patients. To be eligible for the program, patients must either have particular types of cancer or rare inherited diseases who do not yet have a diagnosis.

The project embodies the evolution of genomic technology, where it had once taken up to 10 years to map our genetic information, costing over £3billion, scientists can now perform the same procedures in a single day costing approximately £1,000! Whole genome mapping now has the potential for practical, personalised application to patients. This is a major scale transformation, revolutionising how genomics is applied into mainstream healthcare, transforming the way we care for patients.

What is the genome?

A gene is a region of DNA that has a particular pattern, this pattern determines its job and what product it is going to create for a particular cell. The total complement of these genes including the DNA between the genes in cell is also known as a genome.

Almost all healthy cells in the body have their own copy of the genome however different genes are expressed in different cells, which allows cells to specialise – for example be a bone cell or a heart cell. Mutations to genes can occur, which are normally corrected by our cells. If these are not corrected, these mutations can lead to cancer.

What are the aims of the project?

The aim of this project is to use genomics to gain a better understanding of the whole genome sequence to potentially identify the cause of some rare diseases and help point the way to new treatments for these.

To do this, the project will:

  • Create an ethical and transparent programme with the potential to blossom into a new genomic medicine service for the NHS
  • Allow new diagnosis’s which were not there before
  • Collate medical data and patient outcomes with genomics data gained from patient samples – allowing the development of personalised medicine
  • Ignite new research on the back of the findings from correlated genomics and medical data
  • Kick start development of a UK genomics industry
  • Accelerate clinical trial development

The 100,000 Genomes Project and our Infrastructure Grants

The 100,000 genomes project is very selective about which types of cancer are to be investigated, restricting eligibility to rare cancers only. With an initial allocation of 500 genomes, only the very rarest forms of sarcoma were initially included. However, due to the success of the recruitment of these patients, this has been extended to cover many types of sarcoma including all forms of primary bone cancer. This has been extended further to allow more extensive sequencing of osteosarcoma.

Our Infrastructure Grants that have been awarded to the five primary bone cancer centres will go a long way in contributing to the 100,000 Genomes Project and they will ensure a vast number of primary bone cancer patient samples are included - without our support this would not have been possible. With these grants awarded, more samples can be collected and sent for sequencing and their data can be interpreted and pooled together. This information will create new genetic and biological insights towards understanding primary bone cancers; it will help medical professionals with the diagnosis process and will help determine what treatments are best suited for patients.

Every primary bone cancer patient is unique; this project produces data that will allow us to move towards a more personalised treatment for patients. For example, results may show us which patients respond better and more successfully to a particular treatment than others, or show which patients are more at risk of recurrence. Results will also hopefully identify new targets for more effective treatments. Zoe Davison, Head of Research & Information at the Bone Cancer Research Trust said:

The 100,000 Genomes Project really does present an exciting chance to tease apart the complexities of sarcomas. When we heard that primary bone cancers were eligible for sequencing, we launched our Infrastructure Grants to ensure that we made the most of this amazing opportunity. I am very proud that the Bone Cancer Research Trust are maximising the chances of success by providing the essential resources to ensure that all 5 surgical centres can contribute primary bone cancer samples

Click here to find out more about our Infrastructure Grants.