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Oxford University Hospitals NHS Foundation Trust
Oxford Genomic Medicine Centre

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Taking part!

Oxford NHS Genomic Medicine Centre works directly with clinical teams within its trusts to identify eligible patients and family members who might benefit from whole genome sequencing.

Who is eligible to join the 100,000 Genomes Project?

You might be eligible to take part if you are currently receiving care through Oxford University Hospitals or at one of our partner Trusts and you or a family member have one of the rare diseases covered by the project, or if you have recently been diagnosed with a cancer of a type that is included.

If you are identified as eligible, you will be approached by a member of your NHS care team and asked if you would like to take part. Although we anticipate that genome sequencing will benefit lots of people in the future, you can only be referred to the 100,000 Genomes Project by a specialist clinician. This is because it's important that any genetic testing is right for the patient and this will be different for each individual.

More information about taking part is available through the 100,000 Genomes Project website:

Taking part in the 100,000 Genomes Project - www.genomicsengland.co.uk

If you are currently healthy or you have a rare disease with a known genetic cause we cannot involve you at this stage. The 100,000 Genomes Project is only for NHS patients who have a rare disease with no known cause (and their family members), or newly diagnosed cancer.

However, if you are interested or feel you have valuable experience to share, there are other ways to get involved.

What does taking part involve?

If you consent to take part, you will need to agree to give a sample of your blood. If you have cancer, you will also need to give a small piece of your cancer when you have a biopsy or operation.

You will also need to allow information about your health to be shared so that it can be used to help in the analysis of your condition. We will also ask you to agree that your genome sequence data and health data can be linked to relevant parts of your medical records, including information about your health in the future.

Rare diseases

Patients and families affected by any of over 200 rare diseases who do not already have a genetic diagnosis are being invited to join the project.

The complete list of diseases is available here - Rare Disease Conditions Eligibility Criteria (pdf) - and is regularly updated, so if your disease is not listed, check back in a few months.

If you think you or your family might be eligible and would like to be considered, but have not been approached, you should speak to your hospital consultant (if you have one) at your next regular appointment. You can also email Oxford NHS Genomic Medicine Centre. We can't refer you directly, but we can help you to find the information you need and to talk to your doctor.

Email: Oxford.GMC@nhs.net

In this video, Alex, a participant in the 100,000 Genomes Project, explains what getting a diagnosis has meant to him and his family.

Alex's Story - www.genomicsengland.co.uk

Patient stories

Evie, who has an immune deficiency

Kevin and Corinne Kirk hope a simple blood sample from daughter Evie, two, could help unlock the mysteries of her condition.
The Kirks with daughter Evie

Lola, who has learning difficulties

The parents of a seven-year-old girl diagnosed with learning disability have urged others to follow their example and take part in a pioneering NHS genetics project.
Lola and her family in a sunny park with the dog

Gaynor, who was diagnosed with bowel cancer

Gaynor Allen, aged 55 from Oxfordshire, is taking part in the 100,000 Genomes Project.
Gaynor Allen running in a pink track suit

Cancer

Most patients invited to take part will have been very recently diagnosed with one of several of the more common cancers and will yet to have started treatment. Some patients who have had previous treatment, including chemotherapy or radiotherapy may also be eligible.

Oxford GMC is currently recruiting patients with the following types of cancer: prostate, renal, lung, breast, colorectal, ovarian, sarcoma, testicular, endometrial, oesophageal, and pancreatic cancers, and also haematological malignancies. Adult patients with brain tumours will also be eligible for recruitment in the near future.

Further details of the complete list of currently approved cancer conditions can be found on the Genomics England website under Cancer programme eligibility .

You can also get in touch with the Oxford NHS Genomic Medicine Centre by email . Although we can’t refer you directly, we can help you to find the information you need.

Further information about taking part in the 100,000 Genomes Project, including updates on results for current participants, can be found on the Genomics England website:

Taking part in the 100,000 Genomes Project - www.genomicsengland.co.uk

Genetic Alliance patient charter

Genetic Alliance UK is a national charity working to improve the lives of patients and families affected by all types of genetic conditions. It has published a Patient Charter, which is based on its research into how patients feel about genome sequencing.