Genomics pioneers on the edge of a new frontier
As the Frontline Festival of Genomics brings together experts
and thought leaders to London, the Chief Scientific Officer for
England Professor Sue Hill highlights the crucial role the NHS is
playing in forging a new path for personalised medicine...
A new path for the NHS is opening up.
Thanks to advances in Whole Genome Sequencing and data
analytics, scientists and clinicians are exploring new ways of
identifying the underlying cause of disease to deliver more
precise, targeted diagnoses and treatments.
Thirteen NHS Genomic Medicine Centres (GMCs) across England are
working with patients and participants in the 100,000 Genomes
Project to lay the foundations for a personalised medicine service
across the NHS.
The first 11 centres started recruiting patients with rare
diseases early in 2015. One year on, and with two new centres
joining their ranks, the infrastructure is now in place to start
the main programme recruiting cancer patients.
This new phase in the Project has seen scientists and clinicians
devising, developing and testing new approaches tumour tissue
handling, preparation and assessment methodology - setting global
standards for tumour DNA extraction, whole genome sequencing and
More importantly, these new ways of working will deliver higher
quality samples and faster, more accurate results for NHS
Life Sciences Minister. George Freeman, has described the
100,000 Genomes Project as the UK's 'Moonshot moment' - where the
skill, endeavour and technological brilliance of the nation led the
race to produce an outcome that leads the world's thinking.
With the active participation of NHS patients, clinicians,
scientists and researchers involved in the 100,000 Genomes Project,
we are on our way to deliver more predictive and preventive
medicine; more precise diagnoses; targeted and personalised
Our patient pioneers include:
Mary, Kerry and Sandra - three sisters diagnosed with breast
cancer within 13 months of each other - are hoping to find out if
other family members could be at risk of breast cancer.
East of England NHS Genomic Medicine Centre
Jessica and Georgia's families are looking for answers to their
daughter' conditions. Clinicians from Great Ormond Street Hospital
(GOSH) are able to give them a molecular diagnosis, setting them
free to make decisions about the treatment options for their child
and how they move forward with future plans for their family.
North Thames NHS Genomic Medicine Centre
- Biology teacher
Helen Cawthorne, diagnosed with a rare heart condition, wants
to help unlock new interventions or tests and thus help other with
conditions similar to her own. East of England NHS
Genomic Medicine Centre
The foundations for a personalised medicine service across the
NHS are being delivered by 13 NHS Genomic Medicine Centres to
support and deliver the
100,000 Genomes Project. Eleven Centres were launched in
December 2014, with
two more established in December 2015.