The wait is over! The Oxford NHS Genomic Medicine Centre is now the first centre in the country open to recruit patients with cancer into Genomics England’s 100,000 Genomes Project.

This follows on from the successful start of enrolment of patients and their families with rare diseases into the same DNA sequencing study from June of this year.

The 100,000 Genomes Project aims to decipher the changes in DNA which can lead to disease. This includes those that can be inherited between generations and can cause rare diseases and those that occur during a person’s lifetime and can lead to cancer.

A better understanding of these changes will help improve diagnosis and lead to both new drugs and better use of existing treatments, ultimately improving outcomes for patients.

The Oxford University Hospitals NHS Trust is one of 11 centres across England delivering the project which is entirely voluntary and open to patients throughout the NHS. Patients who may be eligible to take part will be approached by their medical team and receive further information about the study. After the opportunity to discuss this with their families and friends they will give written consent before any samples are collected.

These samples – blood and, in the case of cancer patients, part of the tumour – will be used to provide DNA for sequencing. Other material, such as Ribonucleic acid (RNA) and protein, will also be taken for later analyses. Detailed clinical information will also be collected for participants to allow correlation between genetic data and patient outcomes.

All samples will be sequenced by Illumina, the 100,000 Genomes Project’s sequencing partner and all data, clinical and genetic, will be deposited in a secure national data centre. Access to identifiable information will be limited to treating clinicians while access to anonymised data will require prior ethical approval.

Nationally, 70,000 patients will have their genome sequenced over the three year life-span of this project. Unlike many research projects, the 100,000 Genomes Project allows clinically actionable mutations to be fed back to patients once they have been appropriately validated. This provides the potential for direct benefit to participants either through a more informative diagnosis or through access to novel therapies.

It also provides a fantastic resource of genetic and clinical information for ethically approved groups of researchers: Genomics England Clinical Interpretation Partnerships. This will both improve understanding of the basic biology of the diseases sequenced and drive the development of new therapies.

Further intended benefits of the study are modernising the way genetic diagnoses are delivered by the NHS (transformational change) and training the current and next generation of health care professionals in the exciting discipline of genomics.

In Oxford the project builds on two pilot whole genome sequencing studies: WGS500 and a Health Innovation Challenge Fund (HICF) project carried out in both the Wellcome Trust Centre for Human Genetics and the Oxford Molecular Diagnostics Centre.

WGS500 focussed on rare diseases and used whole genome sequencing to identify the likely genetic cause of previously unexplained, presumed inherited conditions. The underlying causes of disorders as diverse as epilepsy syndromes, immune disorders and kidney problems were identified during this study.

The HICF project – jointly funded by the Wellcome Trust and the NIHR Oxford Biomedical Research Centre [BRC] – also sequenced samples from cancer patients with the first patient enrolled having metastatic prostate cancer.

Sequencing of this patient’s tumour showed a group of genetic changes in the tumour which meant he was eligible for a novel targeted drug. This treatment, which is not usually available, has shown very promising results in clinical trials in patients with similar DNA changes.

The 100,000 Genomes Project also builds on work performed in Oxford as part of the BRC Cancer Pilot. This investigated the most efficient way of preserving tumour samples and extracting DNA from them in order to obtain the best sequencing results.

The opening of the 100,000 Genomes Project to cancer patients in Oxford, with other centres coming on-stream in the near future, allows us to provide many more patients with the opportunity to have their tumour sequenced than previously possible.

In addition to potential individual benefits, through their altruism, participants are also contributing to a larger body of data which will assist generations to come.