Our Genomic Future

NESTA, 2 July 2014

Mark Bale

Department of Health

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

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

Deciphering Developmental Disorders (DDD)

https://decipher.sanger.ac.uk 4

BRAF inhibitors for Melanoma

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.

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

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)

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.

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

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