A project to unravel the genetic changes underlying rare disease and cancers of more than 1,200 patients and their families who are looked after by Oxford University Hospitals NHS Trust (OUHT) has started.
The project will aid research, improve diagnosis and ultimately clinical outcomes so NHS patients can receive care based on cutting edge scientific techniques.
Eligible patients with rare diseases and cancers are being invited to provide health data and blood and tissue samples for whole genome sequencing – where a complete set of a person’s genes is decoded – for the national 100,000 Genomes Project, which was supported by a pilot by the Oxford Molecular Diagnostics Centre (OMDC) at the Trust’s John Radcliffe Hospital.
This national programme – the largest of its kind in the world – was launched by the Prime Minister in 2012 and will help provide better diagnosis and treatment tailored to individual illnesses for some patients.
The Trust was designated a Genomic Medicine Centre by NHS England in December 2014 to carry out the project and the OMDC – supported by the NIHR Oxford Biomedical Research Centre (BRC) – serves as the central laboratory for the Oxford NHS Genomic Medicine Centre.
The rare disease programme started in June while the Oxford cancer programme is the first in England to initiate recruitment this month.
Patients will be referred into the programme by the doctor looking after them. The programme is voluntary and patients will be considered only after they have given written consent.
The Oxford programme will collect about 1,200 samples from about 600 cancer patients and about 2,000 samples from about 660 rare disease patients. Samples will also be taken for other types of analyses for further research and extensive clinical outcome data will be collected.
All samples will be sequenced by Illumina, the 100,000 Genomes Project’s sequencing partner.
Oxford NHS Genomic Medicine Centre clinicians will have access to results for validation and clinical action. The information captured will also be available to researchers for ethically approved research, to help develop new knowledge and treatments.
By providing information about each disease’s unique genetic code, it is hoped that patients will benefit from treatment tailored to their needs while researchers will be able to study data from thousands of patients to develop new treatments.
The University of Oxford’s Wellcome Trust Centre for Human Genetics pioneered this new approach to genetic analysis with its WGS 500 Programme to sequence the complete genome of 500 patients in collaboration with Illumina.
The success of WGS 500 helped to secure funding from the National Institute for Health Research (NIHR) and The Wellcome Trust’s Health Innovation Challenge Fund, the NIHR Oxford BRC and the Cancer Research UK Oxford Centre.
This allowed the OMDC to develop whole genome sequencing protocols and procedures for use in routine NHS clinical diagnostics and to evaluate the technique’s clinical effectiveness and cost implications for the NHS.
The Oxford NHS Genomic Medicine Centre is one of 11 Genomic Medicine Centres to deliver the programme across England.
In the coming months, the Oxford NHS Genomic Medicine Centre will extend recruitment to its partner trusts in the region: Buckinghamshire Healthcare NHS Trust, Great Western Hospitals NHS Trust, The Royal Berkshire NHS Foundation Trust, Frimley Park Hospital NHS Foundation Trust and Milton Keynes Hospital NHS Foundation Trust. The entire three-year project will collect about 4,000 samples from about 1,600 patients.
Director of the Oxford NHS Genomic Medicine Centre and Associate Professor of Molecular Diagnostics for the University’s Department of Oncology Anna Schuh said: “Oxford University Hospital NHS Trust’s designation as a Genomic Medicine Centre will allow eligible patients with rare diseases and their families and patients suffering from cancers to gain equitable access to state-of-the-art genomic diagnostics.
“For some of these patients, this new diagnostic approach will alter clinical management and can guide clinicians towards more effective treatment options. At the same time, by helping to recruit thousands of patients to this unique programme across England, we will make a significant contribution to collaborative research aimed at improving our understanding of these diseases which will ultimately lead to successful design of new therapies.”
Trust Director of Research & Development and NIHR Oxford BRC Director Prof Keith Channon said: “We are extremely proud to be the first of the 11 Genomic Medicine Centres in England to offer this opportunity for patients with cancer. Oxford’s designation as a Genomic Medicine Centre, with the support of the NIHR Oxford Biomedical Research Centre reflects the highly productive collaboration between the OUHT and the University of Oxford’s world-class research departments in bringing benefits to NHS patients.”