Transcript HGSG Report - UK Genetic Testing Network (UKGTN)

Human Genomics Strategy
Group: the path to
implementation
Mark Bale, Health Science & Bioethics
Department of Health
2
Genomics in the NHS
•
•
•
•
•
•
•
The new system
Specialised services & rare diseases
Public health
Research and Innovation
Trust and ethics
Our partners
International contexts
"A big change is taking place in medicine, where far more interest needs to be
directed at genetic data and genetically inherited diseases, as this is how we will
reduce disease and illness in the future.“
The Rt Hon David Cameron MP
The Prime Minister
Prime Minister's Questions, 16 Feb 2011
3
What does this mean for DH?
Current system
•Based on top-down
delegation and direction
by SofS
•Key NHS functions and
roles defined by
Ministers of the day
•DH as the NHS
headquarters
Future system
•Roles + responsibilities
set out in legislation by
Parliament
•Greater autonomy for
front-line bodies
4
NHS Mandate
Published 13 November
•
•
•
•
•
•
The main vehicle for Ministers
to give strategic direction to the
NHS
CB legally required to pursue
these objectives.
Short(ish) and high level
Linked closely to Outcomes
Framework
Research and Innovation –
invention, diffusion and
adoption of good practice
QIPP and commissioning
“... including redesigning services,
open procurement and contracting
for outcomes, to ensure consistently
high standards across all areas ... “
5
Research and Innovation
• Research (National Institutes
Health Research)
Health Innovation Challenge Fund
• Innovation and growth
(Innovation, Health & Wealth)
6
Human Genomics Strategy Group
Recommendations:
• to develop a cross-cutting strategic document,
to set out the direction on genomic technology
adoption in the NHS;
• to develop a national central genomic data
storage facility;
• that the NHS Commissioning Board should
lead on developing genomic technology
adoption;
• to work to develop a service delivery model
for genomic technologies;
• that the NHS should continue to develop
genomics education and training; and
• to raise public awareness of genomic
technology and its benefits.
7
Genomic medicine and
technology update
• HGSG implementation group – focus on service
reconfiguration, informatics and training
• Workshop 7 November, 90 participants, wide range of
ideas.
• Update to Government response to the Lords’ Genomic
Medicine Report
• Work on the Life Sciences Strategy 1-year on report
• Further announcements on genomics (date tbc)
• Responses to the UK Rare Disease plan consultation
• CRG work on specialised commissioning
• Future Innovation, Health & Wealth initatives
Stratified Medicine
Stratified medicine, aka
– Personalised medicine
– Pharmacogenetics /pharmacogenomics
– Precision medicine
•
Right drug, right dose, right patient
•
Multi-agency Stratified Medicine
Innovation Platform led by the
Technology Strategy Board
– Industry-led partnerships between
pharma, diagnostics, imaging and IT
companies and academic groups
•
Together investing up to £200m over 5
years
Precision Medicine
Toward Precision
Medicine:
Building a Knowledge
Network for Biomedical
Research and a New
Taxonomy of Disease
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
•much more research remains to
verify genotype-phenotype
associations of complex diseases in
large cohorts
•the emergence of healthcare
benefits is likely to proceed gradually
over the next decade and beyond
•applications in some areas (such as
cancer) are already here and the
NHS must start to adapt for the
advent of genomic medicine
Bioinformatics
Healthcare Professional
Component 5
Electronic Health Record &
Personal Genome Sequence
Component 4
Individual query
analysis
Component 3
Additional clinical
annotation
Component 6
Research Capability
Programme
Honest Broker
LSDBs
Component 2
Genotype and
Phenotype
relationship capture
Component 1
Human sequence
data repositories
11
NIPD for Down’s syndrome
Next generation sequencing
Chui et al 2011. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing
Conclusions
• NHS autonomy and duties to commission clinically
led services to improve patient outcomes
• Innovation health and wealth key drivers for HMG,
DH and NHS
• Shared framework for genomics in healthcare is a
priority.
• UK Rare Diseases Plan
• Regulation, trust and governance remains vital
• Start to consider wider public health – is genomics
the new 5th wave?
• Policy continues, especially in light of new
developments in technology
13