Richard Scott, Genomics England, spoke in the 'Current initiatives in rare diseases' panel at the Cambridge Rare Disease Summit 2015.

1. The
100,000
Genomes
Project
Richard
Scott
Clinical
Lead
for
Rare
Disease
14th September
2015

2. Four
main
aims
2
1.
To
bring
benefit
to
NHS
patients
2.
To
create
an
ethical
and
transparent
programme
based
on
consent
3.
To
enable
new
scientific
discovery
and
medical
insights
4.
To
kickstart the
development
of
a
UK
genomics
industry
13
September
2015

3. Timeline
313
September
2015

4. 4
What
will
we
be
telling
participants?
• Information
about
a
patient’s
main
condition
• Information
about
‘serious
and
actionable’
conditions
(optional)
• Carrier
status
for
non
affected
parents
of
children
with
rare
disease
(optional) Image
courtesy
of
Health
Education
England
13
September
2015

5. Principal
Partners
5
NHSE
and
GMCs
GeCIP
Industry
Partnerships
Genomics
England
Illumina
13
September
2015

6. Rare
diseases
studied
• A
growing
repertoire
• 131
disorders
to
date
• each
with
specific
eligibility
criteria
• each
with
tailored
clinical
data
collection
models
• each
with
diagnostic-­‐grade
gene
panel
for
initial
report
• Pattern
of
family
members
recruited
reflects
likely
pattern
of
inheritance:
• Proband-­‐mother-­‐father
trio
in
simplex
cases
• Multiple
affected
individuals
+-­‐ parents
in
other
scenarios
613
September
2015

7. NHS Genomic Medicine Centres
• Clinical samples and hospital data
• Laboratory processing including molecular pathology
• Broad consent for research and re-contact
BiorepositorySequencing
DNA & samples
for multi-omics
Clinical Data
• Identifiable clinical data
• Longitudinal
• Linked to genomic data
Research Data
• Pseudonymised
• GeCIP and industry partners
work within data centre
Clinicians &
Academics
Training
Industry
Participants
Data
Fire wall
Existing Clinical Data
Cancer &RD registries,
HES, Mortality data, etc
Data and Analysis
Improvement
• Annotation & QC
• Scientists/SMEs
• Product comparison
Oversight: Funding:

8. Establishment
Phase
• Illumina
-­‐ NHS
Genomic
Medicine
Sequencing
Centre
in
Hinxton
• UK
Data
Infrastructure
for
Genomic
Medicine
(with
MRC)
• NIHR
National
Biosample Centre
-­‐ £24
million
state-­‐of-­‐the-­‐
art
facility
to
store
the
samples
• 11
NHS
Genomic
Medicine
Centres
in
England
to
enrol,
validate
and
feedback
to
patients
8
Data Centre
NHS Genomic Medicine Sequencing
Centre NIHR Biosample centre
13
September
2015

9. NHS
Genomic
Medicine
Centres
• Eleven
Genomic
Medicine
Centres
(GMCs)
established
in
December
2014
by NHS
England.
These
centres
will
lead
the
way
in
delivering
the
100,000
Genomes
Project.
• Track-­‐record
of
providing
excellence
in
genomic
services.
• Eligible
patients
will
be
referred
to
GMCs
by
their
clinicians.
• First
patients
recruited
by
Manchester
GMC
in
March.
913
September
2015

10. Genomics
England
Clinical
Interpretation
Partnership
(GeCIP)
• Launched
at
the
Wellcome Trust
in
June
2014
• Partnership
between
over
2,000
researchers
from
academia
and
the
NHS,
trainees,
plus
international
collaborators.
• Designed
to
accelerate
academic/industry
partnership
and
development
of
diagnostics
and
therapies
• Over
30
topics
(domains)
of
research
and
most
domains
cover
a
single
disease
or
group
of
diseases
and
some
are
wider.
These
include
epigenomics,
health
economics
and
technology.
10
Working
with
the
research
community
• All
data
generated
contributes
to
the
Genomics
England
Dataset
• Second
round
of
applications
Aug-­‐Oct.
New
domains
announced
in
December
2015
13
September
2015

11. GENE
Consortium
• Ten
companies
have
come
together
to
create
the
Genomics
Expert
Network
for
Enterprises
(GENE)
Consortium
to
oversee
a
year-­‐long
Industry
Trial
• Aims
to
identify
most
effective
and
secure
way
of
bringing
industry
expertise
into
the
100,000
Genomes
Project
in
order
to
realise
the
potential
benefits
for
patients.
• AbbVie,
Alexion,
AstraZeneca,
Berg,
Biogen,
Dimension
Therapeutics,
GSK,
Helomics,
Roche,
Takeda
11
Working
with
industry
13
September
2015

12. Health
Education
England
• 9
University
providers
of
MSc
in
Genomic
Medicine
– aimed
at
NHS
healthcare
professionals working
in
England
• HEE
-­‐ Genomics
Education
Programme,
online
training
courses
and
resources
• University
of
Birmingham
• Newcastle
University
• University
of
Manchester
• University
of
Sheffield
• Imperial
College
London
• Queen
Marys
University
of
London
• St
Georges,
University
of
London
• University
of
Cambridge
• University
of
Southampton
12
Upskilling
the
workforce
13
September
2015

13. What
can
we
expect
from
this
Project?
13
Patients • Feedback
on
min
findings
– which
will
get
quicker
and
better
informed
as
the
project
progresses
• If
the
patient
opts
for
it,
feedback
on
secondary
findings
– again
this
will
develop
as
the
project
progresses
• Access
under
strict
governance
rules
to
the
increasing
dataset
and
a
suite
of
best
in
class
tools
• Engagement
in
a
collaborative
programme
with
leading
scientific
and
clinical
experts
• Opportunity
to
share
in
the
publication
of
findings
• Opportunity
to
engage
in
translation
opportunities
with
industry
collaborators
Research
Collaborators
13
September
2015

14. What
can
we
expect
from
this
Project?
14
Industry
General
Public
• A
number
of
mechanisms
to
gain
access
to
the
dataset
and
tools
under
strict
governance
rules
• Engagement
with
the
research
collaborators
and
access
to
expert
clinical
and
bioinformatics
support
• Opportunity
to
address
relevant
patient
cohorts
both
through
the
Genomics
England
dataset
and
through
other
UK
collaborations
• Possibility
of
significant
advances
in
diagnostic
markers
of
genetic
diseases
• Possibility
of
new
understanding
of
mutations
causing
progress
of
common
cancers
• Possibility
of
fresh
insights
into
genetic
markers
for
common
diseases
13
September
2015

15. Progress
so
far
15
• Over
5,000
participants
have
already
agreed
to
take
part
as
part
of
the
pilots:
3,500
in
rare
diseases
and
almost
2,000
in
cancer.
• We
have
already
delivered
over
2,300
whole
genome
sequences,
and
we
are
starting
to interpret
these
to
help
patients.
• Dependent
on
samples
passing
quality
control,
we
will
have
5,000
whole
genome
sequenced
by
the
end
of
August
2015
• These
first
5,000
sequences
are
from
the
pilot
phase
and
our GeCIP
domains and GENE
Consortium partners
will
shortly
begin
working
with
this
data
• http://www.genomicsengland.co.uk/100000-­‐genomes-­‐project-­‐update/
13
September
2015