brussels 12 th february 2019 - european...
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“My genome: our future”
Setting the stage
Brussels
12th February 2019
The 100,000 Genomes Project
• The 100,000 Genomes Project was launched in December 2012 with the declared intention of giving the UK the world leading infrastructure for genomic medicine
• The first goal was to sequence 100,000 genomes from NHS patients and their families, focusing on those with rare diseases or common cancers
• The aims of the project:
• To bring benefit to patients
• To enable new scientific discovery and medical insights
• To stimulate industrial and scientific investment
• To build public support
• Genomics England was created in 2013 to deliver the project
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How the 100,000 Genomes Project works
• 13 NHS Genomic Medicine Centres covering England
• Responsible for identifying and recruiting participants and for clinical care following results
• Northern Ireland, Scotland and Wales have joined
GEP HEI x10
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We did it!
Samples
118,489Samples collected
and received at the
UK Biocentre
Genomes Analysis and Results
genomes sent to NHS GMCs
56,622Results for
Equivalent to
cancer genomes and
42,472 rare disease85,662
32,827
+50,000Genomes since
last February
20-25% actionable findings for Rare
Disease
Genomes sequenced
79,834
103,311
23,477 14,150
Access to linked Real World Data
✓✓✓✓Mortality
data
✓✓✓✓ Hospital Episode
Statistics
Digital pathology
data ✓✓✓✓
Primary
prescribing data…
Secondary
prescribing data…
✓✓✓✓ Genome
data
✓✓✓✓ Enrolment
data
Secondary
health records…
Wearables?
Social media?
Primary
health records…
✓✓✓✓ Genetic
diagnosis data
✓✓✓✓ Biobank
data
EHR
GP
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What are we telling
participants?
• Information about a patient’s main condition
• Information about additional ‘serious and actionable’ conditions (optional)
• Carrier status for non affected parents of children with rare disease (optional)
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Image courtesy of Health Education England
Promoting ethics and transparency
• Patient involvement - the National Participant Panel
• Ensure the interests of participants are always at the centre of the Project.
• Broad consent for translational research
• Oversight of who should have access to participant data
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Discovery
Forum
Ethics
Advisory
Committee
GeCIP
Board
Access
Review
Committee
Participants
Socialising the genome….
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From this
Socialising the genome….
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To this:
“You can look at the books or fishes but you cannot take them away with you”
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Chief Medical Officer’s report – Generation Genome
From 100,000 to 5 million
1115 February 2019
Health and Social Care Secretary Matt Hancock said:“I’m proud to announce we are expanding our 100,000 Genomes Project so that one million whole genomes will now be sequenced by the NHS and the UK Biobank.
I’m incredibly excited about the potential for this type of technology to improve the diagnosis and treatment for patients to help people live longer, healthier lives – a vital part of our long-term plan for the NHS.
From 2019, the NHS will offer whole genome analysis
for all seriously ill children with a suspected genetic
disorder, including those with cancer. The NHS will
also offer the same for all adults suffering from
certain rare diseases or hard to treat cancers.
Today’s commitments form part of our bold aspiration to sequence 5 million genomes in the UK, using ground-breaking technology to do this within an unprecedented 5-year period.”
Genomic volunteers….
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“….Genomics England will undertake detailed development work on a new service to enable genomic volunteers to pay for a personalised report on their unique genetic makeup. As part of this and with the permission of these volunteers, the genetic data will be made available to researchers and scientists working on tackling some of our country’s greatest health challenges. Genomics England will work with NHS England and public and patient groups to lead the development of the service.
Life Sciences Sector Deal 5/12/18
Final thoughts
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“Genetic solidarity and altruism
We all share the same basic human genome,
although there are individual variations which
distinguish us from other people.
Most of our genetic characteristics will be
present in others.
This sharing of our genetic constitution not
only gives rise to opportunities to help others
but it also highlights our common interest in
the fruits of medically-based genetic research.”
Thank you to all our
participants
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