Guest blog: Innovation is creating the wonder of personalised medicine – Professor Sue Hill

Personalised Medicine is one of the four feature zones at this year’s Health and Care Innovation Expo. Ahead of the event, NHS England’s Chief Scientific Officer highlights how cutting-edge science in the NHS is paving the way for personalised medicine:

Twenty-five years ago only science fiction would say we could search billions of pages of information and find almost anything in less than a second, and that we’d be able to store that information in pocket-size devices.

Science and technology are propelling us forward and pushing the boundaries, turning the incredible into the commonplace. Recent headlines show how health developments at the cutting edge of science can amaze and inspire. Things such as:

  • Smartphone software that can predict imminent heart problems by analysing the tone of the user’s voice.
  • Whole genomic sequencing technologies that can provide children living with an undiagnosed condition a diagnosis for the first time.
  • A deeper understanding of leukaemia that allows us to tailor the best treatment through genetic testing.

In each of these cases, patients, scientists, clinicians, researchers and industry are coming together to solve problems – and this collaboration is leading to spectacular breakthroughs.

Nowhere is this ‘connected’ approach more evident than in the field of personalised medicine. By harnessing advances in genomic testing and other cutting-edge diagnostics, and then coupling it with data linkage, computer analytics and mobile technologies, the NHS is paving the way for more precise prediction, diagnosis and treatment of disease.

Our understanding of disease is growing exponentially. For example, we have known for some time that there isn’t a single ‘breast cancer’, but very many different forms of the condition.

All cancer – whether inherited or not – is driven by genetic changes in the tumour that lead to cells dividing uncontrollably. Understanding the precise genetic nature of a person’s cancer helps to identify the best treatment approaches. It can also open up the possibility of new targeted therapies and classes of drugs.

Around the world, cancer treatment is the area of medicine where personalisation is expected to have the most impact.

Genomic technologies are accelerating our understanding of cancer by providing more granular analysis of tumour cells and their mutations. More precise diagnoses are, in turn, enabling new treatments to target the specific cause of each cancer. They can also identify where seemingly different cancers have the same underlying cause – allowing existing drugs to be used for other parts of the body.

With the establishment of the 13 NHS Genomic Medicine Centres to deliver DNA samples and clinical and diagnostic data for the 100,000 Genomes Project, great strides have been taken to introduce whole genome sequencing into the NHS mainstream.

Already, pathologists and scientists are working together to test new pathways: developing new protocols to extract DNA from tumour samples to make them ready for sequencing without impacting on the routine testing that already takes place. Informaticians and clinicians are working together to capture and code datasets, and to track and match the data to samples.

Comparing whole genome sequencing data with the physical presentation of the disease will enable scientists to see which mutations cause which morphological features. Advances in informatics technology and computer analytical techniques are allowing this work to progress.

In the fight against cancer, these advances could be used in giving a clearer prognosis and possibly highlight when a patient can have less aggressive treatment. The associated data will help identify other potential targets for treatment.

Rather than work backwards from an individual’s symptoms through a series of tests, genomics has the potential to identify the root problem and quickly identify the most appropriate course of treatment. This will not only improve outcomes for patients but also drive efficiencies and value for money for the system. This is in line with the NHS Five Year Forward View and the priorities outlined in the Cancer Task Force – for better prevention, swifter diagnosis and better treatment, care and aftercare for all those diagnosed with cancer.

The 100,000 Genomes Project is a catalyst for change. It marks a step-change in our understanding of cancers and rare diseases – and in our ambition to move to a more personalised approach to healthcare, from a one-size-fits-all approach to one-size-fits-one.

Understanding the information in our DNA that makes us who we are – and can shape our health – is a bold and ambitious enterprise. But it is one that the NHS is leading on globally, in partnership with Genomics England and with support from the Department of Health.

Thanks to this collective enterprise, and the dedication of patients and professionals, lives will be improved and health problems detected, monitored and treated more accurately – more personally.

The Five Year Forward View and the NHS Constitution recognise the NHS will continue to flourish if it works at the limits of science. Personalisation of medicine will bring some of the most important innovations in coming years.

The Personalised Medicine Zone is an important part of this year’s Health and Care Innovation Expo, to highlight and celebrate the work we are doing today for our #FutureNHS.

NHS England’s role is to ensure that we bring everyone along this road to discovery, so that in twenty years’ time, we can all look back in wonder at how far we’ve come.

  • Visit the Personalised Medicine Zone at the Health and Care Innovation Expo 2016 on 7 & 8 September.Register now and follow @NHSEngland, #PersonalisedMedicine, #FutureNHS and #Genomes100K.
  • Find out more about the 100,000 Genomes Project, including how to take part, on Genomics England’s website.
  • Did you know that a range of courses and modules has been developed to grow the skills and expertise needed in the NHS? Find out more about HEE’s genomics education programme at this link:


Sue Hill - Professor - Chief Scientific OfficerProfessor Sue Hill OBE is the Chief Scientific Officer for England and the head of profession for the 50,000 non-medical healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.

Sue is a respiratory scientist by background with an international academic research reputation.

She has a broad portfolio of policy responsibilities across NHS England and the wider NHS, providing professional leadership and expert clinical advice across the whole health and care system.  In particular, she is the NHS England senior responsible officer for Genomics and is providing the clinical leadership for the development of genomic interventions in the NHS alongside the 100,000 Genomes Project.

As part of this role she is leading and embedding the learning into the development of the NHS England Personalised Medicine strategy.

A significant part of Sue’s role involves working across government, with the Department of Health, with the NHS, Public Health and Health Education England and other external stakeholders to inform policy, influence legislation, deliver strategic change and to introduce new and innovative ways of working. She is also the senior responsible officer for Home Oxygen and Hearing.