02 August 2017
1,000 patients from across West of England enrolled in national genomics project
The West of England NHS Genomic Medicine Centre (WEGMC) has now
enrolled 1,000 patients and family members from across the region
to take part in the 100,000 Genomes Project.
Nicola Windless, from Midsomer Norton, and her family have
joined this ground-breaking initiative which is the largest
national genome sequencing project of its kind in the world.
Nicola's twin daughters, Kayleigh and Michelle, have an
undiagnosed condition and Nicola hopes that research like 100,000
Genomes can help provide some answers.
"Kayleigh and Michelle have global learning difficulties and
epilepsy and we want to know more about their condition and whether
there is a genetic link. I've always been optimistic about our
situation but it's the factor of the unknown which can be a
struggle. I know that the project may not give us all the answers
but I strongly believe that the more you know, the better so that's
why my daughters, my husband Paul and I have enrolled on this
important project," said Nicola.
From left to right: Kayleigh, Nicola, Michelle and
Paul
Professor Andrew Mumford, clinical director of the WEGMC, said:
"Thanks to the support of people like Nicola and her family and
hospitals across Bristol, Bath and Gloucestershire, we have been
able to achieve this significant milestone for our Genomic Medicine
Centre. The enthusiasm around the project from patients, and their
families, and the healthcare community has been incredible and we
are thrilled to be part of this very important initiative that will
help shape the future of personalised medicine in the NHS."
The 100,000 Genomes project in 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. A genomics
medicine centre was established in the West of England at the end
of 2015 to enable access to this service for patients and their
families across region.
Professor Dame Sally Davies, chief medical officer of NHS
England, recently called on the NHS to make genome sequencing as
standard as blood tests and biopsies for people with cancer, rare
diseases and infections. Genome sequencing could result in more
personalised treatment for patients and faster diagnoses for people
with rare diseases.
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