WIREDGOV

The 100,000 Genomes Project has taken another major step forward with a move to recruit cancer patients.

The Oxford NHS Genomic Medicine Centre – one of 11 such centres in the country launched as part of the 100,000 Genomes Project last December – is the first in the country open to recruit patients with cancer into the project.

The vital work will involve unravelling the genetic changes underlying rare disease and cancers of more than 1,200 patients and their families in the Oxford region.

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.

The 100,000 Genomes Project – 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 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.

Director of the Oxford NHS Genomic Medicine Centre and Associate Professor of Molecular Diagnostics for the University’s Department of Oncology, Anna Schuh said: “This 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 NHS Genomic Medicine Centres in England to offer this opportunity for patients with cancer.”

• Read more about the work of the Oxford NHS Genomiic Medicine centre in a blog by Dr Angela Hamblin
• View more information about the national 100,000 Genomes Project.