This presentation was delivered at a Nesta Hot Topics event – Our Genomic Future – where we discussed what would happen if we all had our genome sequenced. For more on the event visit http://www.nesta.org.uk/event/our-genomic-future

1. Our Genomic Future
NESTA, 2 July 2014
Mark Bale
Department of Health

2. 100,000 Genomes Project
“It is crucial that we continue to push
the boundaries and this new plan will
mean we are the first country in the
world to use DNA codes in the
mainstream of the health service”
The Rt Hon David Cameron MP
The Prime Minister
10 December 2012

3. The rate of change
• Sequencing costs are dropping rapidly
and new sequence data consequently
rising
• Research is advancing at a rapid rate,
but understanding of the role of genes
in health and disease is still in its
infancy
•Applications in some areas (such as
cancer) are already here and the NHS
must start to adapt for the advent of
genomic medicine
•Benefits in reduced diagnostic time,
better precision and possible savings
from other (futile) treatment options
•Capacity challenges and bottlenecks in
data storage and interpretation
•Concerns that investment unlikely
piecemeal under current assumptions –
industry and other private investment

4. Deciphering Developmental Disorders (DDD)
https://decipher.sanger.ac.uk 4

5. BRAF inhibitors for Melanoma

6. A vision for NHS genomics
Human Genomics Strategy Group (2012)
• By 2020, the NHS will be a world leader in the
development and use of genomic technology in
the areas of healthcare and public health. It will
be seen as a first-choice partner for industry,
academia and research, contributing substantially
to the global genomics knowledge base by
supporting and facilitating innovation and novel
research.
• Genomic information and clinical genetic testing will be
used equitably across the NHS, improving diagnosis and
treatment decisions by identifying the right therapies to
maximise efficacy and reducing adverse effects.
• Healthcare providers within the NHS will confidently use
genomic information within their roles
• Effective public engagement will increase awareness of
the role of genomic information in healthcare; how it can
inform health choices; and the need for consent to access,
study and use genomic data for the greater good.
• There will be a vibrant SME sector and large life sciences
company investment in and around our best universities
and genomics hubs.

7. Discovery Diagnostics
Diagnosis from research studies using
genomic technologies in a clinical
translation research setting:
DDD (UK)
Analysed first 1,133 families, with a
diagnostic rate of aprox 30%, discovered 12
new genes
Gilissen etal (2014) – Nijmegen
42% diagnosis rate of 50 children with
severe intellectual disability using WGS
Beaulieu etal (2014) – FORGE Canada
Consortium
45-95% diagnosis rate of 264 patients using
whole exome sequencing

8. Genomics awareness ?
• “Genetics is broadly understood to involve inherited
traits / heredity and to relate to some health
conditions, but knowledge is typically at a superficial
level....”
• “Genomics is a completely new term that the vast
majority has never previously heard of. With a
simple explanation and comparison to genetics,
genomics makes sense although it can also feel quite
hard to grasp.”
• “often an assumption ... that if an individual’s data is
sequenced that test results will be available in the
form of a full report both on their current health
[and] any health conditions ... in the future”
• “Despite positive reactions to the concept, important
concerns are often spontaneously raised and
assurances are needed, particularly surrounding data
storage, access, usage and anonymity.”
‘I’ve never seen that word before’
‘Is it the economics of genetics?’
‘It’s all your genes put together’
‘I’m still finding it hard to separate
genetics and genomics’
‘Now that’s good providing it stays
within the NHS’
‘It sounds like a step forward, easier
for organisations to tap into the
information’
As long as it’s not put on a PC [sic]
and taken about and lost’
‘On the whole, I trust the NHS or the Department of Health to run this
well – they understand the health system and you know their aim is to
improve treatment and diagnosis’ (Clinic depth, BC1, retired,
Midlands)
‘I like the sound of ‘world leader’’(Group, BC1C2, pre- family,
North)

9. Core Ethical Principles for 100K
• The programme should bring benefit to current patients,
future patients and to the NHS.
• The findings should be available to patients in the NHS, and
drive improved diagnosis or care within the NHS.
• Data access should be subject to a transparent and
accountable governance process and made in the public
interest.
• Consent by participants should be based on an understanding
of the implications of participation for themselves and of this
programme more broadly.
• There should be a well-designed and comprehensive
programme of public engagement.

10. Broader ethical and social challenges
• Autonomy – the right to have, or not have, certain
information about future risks
• Feedback of findings, duties on doctors, sharing data with
family members
• Privacy – data protection and appropriate use of data
• Non-discrimination – no unfair treatment or stigmatisation
on the basis of genome data (in employment or education
and in certain aspects of insurance)
• Ownership of genome data and commercialisation
• Equitable healthcare – pros and cons of stratified medicine
especially for rare or untreatable sub-types of disease
• Reproductive use – appropriate regulation of genomics for
IVF (PGD), sex selection or alteration of the human genome

11. Summary
• UK well placed to lead in genomics
– Prime Minister’s initiative challenging and like the ‘moon shot’
– This is BIG data and needs new tools
• Public confidence and understanding
– The 100K genomes is a key project which raises some new issues, BUT
– UK has a good track record on pragmatic solutions to ethical
challenges – IVF and the Warnock Report.
– We are now in the Genomics Era and need to deal with the
implications