Human Genomics Strategy Group: the path to implementationMark Bale, Health Science & BioethicsDepartment of Health

Genomics in the NHS

• The new system• Specialised services & rare diseases• Public health• Research and Innovation• Trust and ethics• Our partners• International contexts

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"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 MPThe Prime Minister

Prime Minister's Questions, 16 Feb 2011

What does this mean for DH?

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•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

Current system

•Roles + responsibilities set out in legislation by Parliament

•Greater autonomy for front-line bodies

Future system

NHS Mandate

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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 ... “

Research and Innovation

• Research (National InstitutesHealth Research)Health Innovation Challenge Fund

• Innovation and growth(Innovation, Health & Wealth)

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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. 

Human Genomics Strategy Group

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

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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

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Healthcare Professional

Component 4 Individual query

analysis

Component 3 Additional clinical

annotation

Component 2 Genotype and

Phenotype relationship capture

Component 1 Human sequence data repositories

Component 5 Electronic Health Record &

Personal Genome Sequence

Component 6 Research Capability

Programme Honest Broker

LSDBs

Chui et al 2011. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing

NIPD for Down’s syndromeNext generation 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

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