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.
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: http://www.wegmc.org/
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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.
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