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Oxford University Hospitals NHS Foundation Trust

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100,000 Genomes Project

Some cancer and rare diseases patients and their families are being asked if they wish to give samples and information about their health, as part of the largest ever project of its kind to better understand the genetic changes underlying rare disease and cancers.

Visit the Oxford NHS Genomic Medicine Centre website -

Oxford University Hospitals is part of the national 100,000 Genomes Project to 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.

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 will collect about 4,000 samples from 1,600 patients by 2017.

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.

Cancer patients will contribute two genomes for comparison, one from their healthy cells taken from a blood sample, and one from the cancer tissue. The project covers breast, bowel, ovarian, prostate, lung and renal cancer and sarcoma.

Patients suffering from a rare disease - and ideally their affected and/or unaffected family members - will be invited to donate a blood sample.

For a list of eligible rare diseases, please see:

Rare diseases currently included in the 100,000 Genomes Project - (pdf)

Patients will also provide information about their health, including any family history of illness, risk factors, current illnesses and treatments.

Introducing Genomics in Healthcare

Duration: 7 minutes and 43 seconds
Vivienne Parry OBE introduces the fundamentals of genomics and its growing importance for healthcare.

All samples will be sequenced by Illumina, the 100,000 Genomes Project's sequencing partner.

The Oxford NHS Genomic Medicine Centre is one of 13 Genomic Medicine Centres to deliver the programme across England.

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
  • Milton Keynes Hospital NHS Foundation Trust

For more information visit the Genomics England website:

or email: