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Oxford University Hospitals NHS Foundation Trust
Oxford Genomic Medicine Centre

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Rare disease

Referral pathway

To refer your patients to the Rare Disease arm of the 100,000 Genomes Project, you will need to do the following.

  1. Identify a patient or family with a condition which has a likely genetic basis but where the cause is unknown.
  2. Confirm eligibility. Over 200 conditions are included; contact us if you are not sure which category is most appropriate.
  3. Discuss the project with the patient and/or family, or send a leaflet (we can provide these).
  4. Make an application. Download the form at the link below and submit by email:
    Clinical Genomic Sequencing Application Form (Word, 106 KB)
    or sign up for our online referral system - contact us for more information or to request an account.
  5. Confirm a recruitment plan. We'll help with defining a sequencing strategy to give the best chances of a result. You can request recruitment by the Clinical Genetics Genetic Counselling team; we will contact your patient and arrange an appointment at one of our dedicated clinics.

As results are returned, the referring clinician will need to discuss these and their implications with the patients and their families. Help with this and advice about onward referral is available at your request.

Advice on patient identification and the referral processes is available on request. Our Rare Disease Genomic Champion, Peter Risby, a Principal Genetic Counsellor, can help with individual enquiries or arrange to speak to your team.

Who is eligible?

Currently, the 100,000 Genomes Project is recruiting patients and families with any one of over 200 diseases. Each disease has an eligibility statement which defines criteria that must be met for a patient to be recruited.

100,000 Genomes Project Rare Disease Eligibility Statements

These lists are updated frequently and updates will be posted as soon as they are released.

If a particular disease area is not represented and you think it should be, or you would like to suggest an amendment to an existing statement, it's possible to nominate a disease for inclusion or suggest changes. Each proposal goes through a number of approval steps, so it's worth including as much supporting information as possible.


In this video, Oxford GMC Clinical Director, Dr Ed Blair, talks to Professor Kassim Javaid, Lead of the Musculoskeletal GeCIP, about how the 100,000 Genomes Project is benefitting patients with musculoskeletal disorders and also generating valuable data for research.

The benefits of recruiting patients to the 100,000 Genomes Project

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 comprises a forum in which cases and results from genomic sequencing can be discussed and advice given on the appropriate pathways for testing or referral for patients from any clinical department.

The group currently acts to review local applications for recruitment to the 100,000 Genomes Project and advises on validation and return of pertinent and additional findings as these are returned.

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 case referral and discussion.

The team includes experienced clinicians from relevant clinical departments and representatives from genetic counselling and clinical diagnostic laboratories. Clinicians from Oxford or our partner trusts submitting proposals or interested in the process are encouraged to attend if they wish.

Please contact us for further details of meetings.



Our team of experienced Genetic Counsellors can arrange to see patients and families referred by any clinician through one of the dedicated 100,000 Genomes Project clinics run through the Department of Clinical Genetics.

These are held in the John Radcliffe Hospital and Horton General Hospital (adults and paediatric patients) and the Nuffield Orthopaedic Centre (adults), and also at each of our partner trust sites so that patients and families can be seen close to home where possible.

The referral form asks about this, and you can contact us for more information.


If you prefer, you can recruit your patients yourself or through your local team. All staff taking consent must be accredited by completing the HEE online course:

'100,000 Genomes Project: Preparing for the Consent Conversation'

Face-to-face individual or group training sessions with the local team can also be arranged on request: see 'Training and education' for more information, or contact us to discuss your requirements.


Consent forms and patient information

All Rare Disease consent forms and patient information (including withdrawal forms) can be found on the Genomics England website.

Staff taking consent will be supplied with all necessary documentation before the recruitment appointment.

Participants can withdraw at any time without giving a reason. Please see the Genomics England website for further details.

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.