Preparing healthcare for the arrival of genomics
As Chief Scientific Officer for England, Professor Sue Hill is at the heart of a healthcare transformation in the UK that would bring advances in genomics and technology into the mainstream.
There are some big changes afoot in healthcare, and much of the transition is being driven by genomics. But bringing new technology to bear in a vast public healthcare system is no small challenge; from staff expertise to patient understanding, there are a lot of people with a range of different views on the best approach. In her role as Chief Scientific Officer for England, Sue Hill has a more comprehensive view of these challenges than most.
FLG: What does your role as the NHS England senior responsible officer for Genomics entail?
SH: As SRO for Genomics, I am leading the clinical policy and strategy for the NHS in England and its implementation working across the organisation – centrally and across the regions – together with NHS providers and other system partners. Integral to this role is leading the NHS contribution to the 100,000 Genomes Project, working with partners and establishing the infrastructure for delivery, particularly the network of 13 NHS Genomic Medicine Centres and the development of innovative ways of spreading good practice.
The key role for NHS England in the longer term is the mainstreaming of genomics in the NHS. In particular I have been establishing future arrangements for the commissioning and delivery of genomic medicine, such as the reprocurement of the genomic laboratories within the NHS. The genomic infrastructure and approach will then be used to underpin the personalisation of treatments and interventions.
I’m also part of the leadership of the HEE Genomics Education Programme which supports the upskilling of the NHS workforce to make the most of these technologies. More broadly, the advances in this area dovetails with my broader role in science and technology, as Chief Scientific Officer for England, including the development of established diagnostic techniques and services and the capture and analysis of the rich phenotypic information that they generate as well as the role of many different scientific specialisms in underpinning specialist treatment interventions and in monitoring responses.
FLG: How to you balance the needs of internal stakeholders, take in the views of external stakeholders, and still make everyone feel like they are being listened to and taken seriously?
SH: The greatest thing about working in genomics is that the whole healthcare stakeholder community recognise the significance of this technology to delivering sustainable care in the future. So there is a real willingness to engage and a recognition of the need to work together. The level of commitment shown across NHS Genomic Centres, given the day-to-day workload of frontline NHS services shows how much the future potential of this technology is recognised and valued.
I’ve worked on many change programmes over four decades in the NHS and I’ve never seen this pace and change of transformation nor this level of commitment from staff. What the NHS is doing with genomics is truly remarkable.
Of course, stakeholders will still have their views and concerns and an important part of my role is to recognise and appreciate where people are coming from, while keeping everyone focused on the vision and the way ahead.
A really important part of providing an environment that allows the development and involvement of genomic medicine is to ensure that patients and the wider public understand and support these evolving technologies, supporting the principles of progress rather than fearing the perceived consequences. In the UK, we’ve got the well-established model of the Human Fertilisation and Embryology Authority which operates through public education & information; strong scientific review and fair and open decision making to allow science to progress at an appropriate pace. Within the genomics programme, we’ve built in strong patient and public involvement, informed by effective scientific analysis to help ensure a facilitative environment for these technologies to progress for the greatest benefit.
FLG: It feels like we’re right in the heart of a healthcare revolution. What are the other technologies and scientific breakthroughs outside of genomics that you would say are driving it?
SH: Alongside the advances in genomics, we are seeing technological advances across the whole of diagnostics. This includes developments in digital pathology and pattern recognition software; Multimodaliy imaging, which uses and combines data to produce in depth and objective information on individuals and Bio- nanotechnology, enabling more point of care testing in Genomics including in molecular biomarkers – provide real time data to inform clinical decision making.
The real power is seen through the growing ability to bring all this information together through the developments in the field of data and bioinformatics, with the digitisation and sharing of all the diagnostic and clinical data that is collected through routine healthcare. For far too long healthcare has treated test data as a transient step to a diagnosis, rather than as a resource that can be collated and analysed. The increases in computing power and connectivity, together with the development of analytical techniques such as machine learning and cluster analysis is making bioinformatics a really important part of care, treatment and research, and the bioinformaticians a crucial part of the clinical team.
Genome sequence information only reaches its proper potential when combined and analysed with rich diagnostic and clinical data. What makes the 100,000 Genomes Project a unique world-leader is the wealth of clinical information that the NHS has collected over individual’s life, which is almost impossible to replicate in other health systems.
The other invaluable advance that builds and supports this is the advent of patient generated data from wearable devices – these capture comprehensive data about an individual’s physiological response in real time, providing more opportunities for diagnosis and helping avoid testing artefacts such as white coat hypertension.
FLG: As we move towards personalised medicine, how does the role of the patient change?
SH: A fundamental part of personalised medicine is that patients play a much more participatory role in their treatment. Personalisation is all about recognising the individuality of treatment, recognising and valuing their differences, rather than lumping people together in a ‘one size fits all’ way. This will require patients to be more involved in their treatment, to make informed choices and sometimes lifestyle changes and to provide information to help better tailor their care. It will also require a recognition of an increasing intricacy in treatment – understanding that two neighbours with very similar symptoms may get completely different treatments because of the differences in their individual genomic makeup.
FLG: How well equipped is the NHS to roll out personalised medicine and mainstream Next Generation Sequencing throughout healthcare?
SH: The 100,000 Genomes Project was designed to build in the implementation of genomic medicine into day-to-day healthcare, so the NHS is ready to hit the ground running before the Project is even finished. One of the defining features in the Project is that participants come from routine care and are treated through routine channels, unlike the research-based approach used by most genomic projects around the world.
The NHS has built the structures, devised the pathways and upskilled the staff for routine genomic medicine as part of the development work for the 100,000 Genomes Project, so these are already in place.
Across the NHS, teams have had to change pathways to establish mechanisms to not only track samples across geographies but gather associated information. Post-sequencing new Multi-disciplinary Teams have been established, engaging a much broader range of clinicians, to ensure effective validation of the results
The formal procurement of a mainstream NGS provider is currently taking place, as are the arrangements about procuring and delivering a new structure for the genomics laboratories up and down the country, all of which will be in place by April 2018. Likewise the Health Education England Genomics Education Programme has had many tens of thousands of contacts with staff across the professions and specialisms, to build understanding of how this new infrastructure can be used to help their patients and improve outcomes.
So, across the NHS building these developments are providing the catalyst to drive new transformation changes. This builds on a long tradition of learning and development and is showing particular application in cancer – but also driving the introduction of WGS elsewhere into routine care and demonstrating the benefits it can bring.
FLG: How do you approach staff upskilling when a lot of the staff in question are already very time pressured?
SH: The HEE Genomics Education Programme has taken a ‘Martini’ approach to the scoping and development of its resources, recognising that resources need to be available ‘anytime, anyplace, anywhere’ to match the pressure of individual’s working lives and the opportunities and approaches they take to learning. This has resulted in a range of learning interventions ranging from the development of a fully-funded academic Masters in Genomic Medicine and postgraduate and doctoral course for clinical scientists right through to ‘just in time resources’ such as factsheets that GPs can access during the course of a consultation. It’s important that the approach to educating and upskilling staff is as cutting-edge as the technologies that we are looking for them to utilise to improve care, treatment and management.
Likewise making sure the infrastructure to support services is very important, so we have been encouraging NHS provider organisations to consider the growth of genomics in their area and to make sure that their local infrastructure is appropriately supported, for example through having the right staff and equipment in their local laboratories.
FLG: What kind of progress are you looking to see from the network of NHS Genomic Medicine Centres?
SH: NHS Genomic Medicine Centres have been established and contracted to identify participants for the 100,000 Genomes Project; manage the information and consent process for the individuals and families concerned; collect high-quality samples and clinical data and then validate the clinical reports following sequencing and support the clinical teams returning information to patients and determining future management. To deliver this they have had to devise and develop new approaches, such as the fresh-frozen protocols for cancer samples, reconfigure patient pathways to maximise efficiency, build new links between networks of organisations across a geography – both cultural and technical – and to support staff across the professions to understand the importance of these technologies to the future of healthcare.
So the broader mission of the NHS GMCs is to provide clinical leadership and engagement across the system, providing a clear narrative that focuses on measurable benefits for the NHS and improving care and outcomes for patients. A partnership ethos is central to this, building a commonality of approach with new networks between organisations and shared decision making. This is little short of the wholescale transformation of the NHS.
What is remarkable is not the sheer size and scale of this ask, but how well the NHS has responded to this challenge. I firmly believe that the NHS has some of the best and brightest people in the world and I never cease to be heartened and proud by how much has been achieved in such a short time, and the real commitment for individuals and teams to go the extra mile to make this work, given the pressures of day-to-day delivery.
This is all the more impressive given that the NHS has not had an example to follow but has had to build the future from scratch as we go. We have always expected to see an exponential curve in delivery as systems, procedures and partners have come online, and believe that everyone involved is really starting to get into the stride of delivery.
FLG: At this point, how would you describe the NHS experience of moving toward personalised medicine? What has surprised you the most?
SH: The development of genomics and the move toward personalised medicine has been a huge learning curve for everyone involved, has involved tackling many challenges. The distance we have travelled over the past three years is impressive, and the vision and commitment of staff across the system has been something that has shone out.
The thing that I have been most struck by are the developing areas of excellence that we have encountered across the country as part of this journey particularly through the development of new academic partnerships, with each of the NHS GMC areas showing particular areas of excellence. This ranges from the skills around pharmacogenomics and adverse drug reactions in the North West; the identification and management of genetic diabetes in the South West and in genetic eye disease in Manchester working in a network with other specialist centres, coupled with a structured approach to mainstreaming this across frontline professionals across the country ; through to the developments around point of care genetic technologies from teams in the North East , in combined molecular diagnostics provision to support both cancer and rare disease care in Oxford and in collaboration with CRUK in Cambridge. We’ve seen partnerships developing personalised medicine in for example Yorkshire & the Humber and North Thames/UCL, and new translational medicine developments with genomics at its core for example in West Midlands, Wessex, West London, South London and West of England .
There is so much amazing work going on and the mainstreaming of personalised medicine will provide the springboard for these technologies to really deliver maximum benefit for the patients and populations we serve.
FLG: What advice would you give to other healthcare systems looking to make a similar transition?
SH: The establishment of a wholescale personalised medicine approach is a big commitment for any healthcare system and must be entered whole-heartedly to be delivered successfully. Consideration of how these technologies are to be mainstreamed must be built into the project right from the start. It’s not enough to come up with the technical solution along – clinical and other staff are a crucial part of the infrastructure and the support and upskilling for them to make the most of the new approaches is central to success. Recognise that there are sure to be significant technical and process hurdles and do not underestimate the challenge of sharing clinical information in a secure way across systems and geographies.
It is important to align any research initiatives with the mainstreaming in practice. Success requires a clear understanding of the delivery mechanisms across the health system, clearly identifying the models of care and service required in all cases and maximising the opportunities to use any levers and incentives to drive transformation.
In any system, clinical leadership will be critical to firmly establishing new approaches and ways of operation. This must be supported through a central driving team with strategic partnerships at its core.
Most of all remember that this, as with all healthcare, is all about the patients and participants and none of this can be delivered without their consent, understanding and active participation.