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29 December 2017

More than 1,500 people enrol in genetic research project


More than 1,500 patients and family members have enrolled in the 100,000 Genomes Project in the West of England - as results start to come back.

The West of England NHS Genomic Medicine Centre (WEGMC) has started work on analysing the results of the 100,000 Genomes Project which could lead to more knowledge about underlying causes of conditions or new future treatments.

Just under 1,500 patients with rare diseases have consented to be part of the project through the WEGMC, with a further 200 patients with cancer also consenting since the centre was set up at the end of 2015.

Around 500 of these patients have consented to be part of the project in the last six months, as the centre continues to go from strength to strength.

Catherine Carpenter-Clawson, programme manager for the WEGMC, said: "It's been a really busy year. We've got up and running and are now able to consent patients with certain types of cancer and rare diseases from across the west of England.

"I'm looking forward to the future as we move towards genome sequencing being provided as standard care for people with certain types of cancer and rare diseases."

One of the patients to sign up is grandfather Gregory Fudge. The 69-year-old from Hanham, near Bristol, has been diagnosed with chronic lymphocytic leukaemia (CLL), a type of cancer that affects the white blood cells and tends to progress slowly over many years.

Gregory Fudge

The retired draughtsman and later tool planner at Airbus in Filton signed up to the 100,000 Genomes Project alongside a trial which is helping his condition. 

Suriya Kirkpatrick, senior cancer trials nurse and 100,000 genomes champion at Southmead Hospital which is run by North Bristol NHS Trust, said: "Gregory's involvement in the project could lead to us finding underlying causes of the condition he has or we might be able to develop future targeted treatments.

"It won't mean that we change his medication or treatment but it could lead to future benefits or provide valuable information should his condition change.

"It is fantastic that through the 100,000 Genomes Project, we're able to support patients such as Gregory and that they are willing to be involved in this ground-breaking research project."

Gregory said: "I'm really pleased that I signed up to the 100,000 Genomes Project. If it provides any information that could help my treatment, find out more about the underlying causes of my condition or help other patients in the future, then it's worthwhile.

"The support and care I've received from Suriya and her colleagues has been excellent and I look forward to hearing what they discover about my condition and potential future treatments."

The 100,000 Genomes project is a major NHS initiative that aims to sequence 100,000 genomes from patients with rare inherited diseases or with cancer and to transform NHS services to include genome sequencing as standard care for future patients.

For more information about the WEGMC and the 100,000 Genomes Project visit:


About genomes and sequencing:

Your genome is the instructions for making and maintaining you. It is written in a chemical code called DNA. All living things have a genome; plants, bacteria, viruses and animals.

Your genome is all 3.2 billion letters of your DNA. It contains around 20,000 genes. Genes are the instructions for making the proteins our bodies are built of - from the keratin in hair and fingernails to the antibody proteins that fight infection.

Sequencing is a technique that is used to 'read' DNA. It finds the order of the letters of DNA (A, T, C and G), one by one.

Sequencing a human genome means finding the sequence of someone's unique 3 billion letters of DNA.