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Oxford University Hospitals NHS Foundation Trust
Oxford Genomic Medicine Centre

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Healthcare professionals

The 100,000 Genomes Project has now closed to recruitment.

The Oxford NHS GMC is grateful to all the healthcare professionals who have referred and recruited patients, developed and implemented sample pathways, analysed results, and helped us to deliver the project locally.

If you have any questions about the project or the results it has generated, please contact us.


Guide for clinicians feeding back genomic results

The Genomics Education Programme has developed a short guide to support clinicians in returning results to participants with a suspected rare disease.

Returning results from the 100,000 Genomes Project (pdf, 229 KB)

NHS Genomic Medicine Service

The 100,000 Genomes Project been instrumental in laying the foundations for the NHS's new genomic medicine service (GMS). Following the close of the project, eligible patients as defined by a national NHS Test Directory will be able to access whole genome sequencing through this service, which is expected to commence later this year.

The GMS will be coordinated through seven Genomic Laboratory Hubs (GLH), each working with local partners to cover the whole of England. Oxford is partnered with the West Midlands (with Birmingham Women's and Children's NHS Foundation Trust as lead organisation) and Wessex regional genetics services to form the Wessex and West Midlands Genomic Laboratory Hub. Each alliance is expected to drive research and innovation alongside the delivery of a comprehensive genetic testing service for the benefit of patients nationwide.

The national genomic test directories and further information about eligibility for rare disease and cancer patients can be found on the NHS England website.

Oxford Genomic Medicine MDT

The Genomic Medicine Multidisciplinary team (GM-MDT) was established in April 2014 through the NIHR Oxford BRC's Genomic Medicine Theme to facilitate projects in translational genomics.

The GM-MDT is chaired by Professor Julian Knight and is now the route through which results from the Rare Disease arm of the 100,000 Genomes Project and other genomic sequencing initiatives are discussed prior to validation and return.

The GM-MDT meets weekly, every Wednesday in the Lecture Room of the Nuffield Orthopaedic Centre. It is accessible to all specialties within Oxford University Hospitals and partner trusts for discussion of genomic results and advice on feedback.

The team includes experienced clinicians from relevant clinical departments and representatives from genetic counselling and clinical diagnostic laboratories. Referring clinicians are invited to attend when their cases are proposed for discussion, and any clinician from OUH or any of our partner trusts interested in the process is encouraged to attend if they wish.

The GMC also publishes a newsletter several times a year with updates on the 100,000 Genomes Project, training, and events.

:To attend meetings or receive copies of our newsletter please email us.


Oxford NHS GMC Rare Diseases Newsletter

The Oxford NHS GMC produces a newsletter every quarter. If you would like to be added to the email distribution list, please email us.