Taking a more personalised approach to diagnosis and care

As NHS England takes steps to develop a Personalised Medicine Strategy for the NHS, Professor Sue Hill, Chief Scientific Officer, looks forward to patients, scientists and clinicians forging a new path for medicine:

The NHS is starting to gear up for one of the most fundamental changes in its history, one that will involve every citizen, every provider and commissioner and every healthcare professional.

At its heart is a completely new way of thinking where we use diagnostics and other emergent technologies such as genomics and data analytics to identify and understand the underlying cause of disease, rather than the current approach of trying to work back from a set of symptoms.

Infectious diseases were, in many ways, the biggest challenge of 20st Century healthcare and a well-established approach was built up to manage this – examine the symptoms, diagnose the infectious agent and tackle the disease using pharmaceutical drugs tailored to that particular agent.

As people are living longer and diagnosis and treatments improve, the great challenge of 21st Century is becoming non-communicable disease – conditions such as cancer, obesity, diabetes and hypertension. Across the developed world, there is a significant rise in these conditions as lifestyle factors interact with an individuals’ genetic makeup.

The ‘one size fits all’ model of the past is struggling to keep up, with many of the currently available drugs only being effective in 30 to 60 per cent of treated individuals. With such diversity in response, the challenge now becomes about treating individuals rather than treating individuals with the condition as a homogeneous group. This is the way to ensure the right patient gets the right treatment at the right time, leading to improved outcomes.

A strategic approach to personalising diagnosis and care has to be central to delivering an effective and sustainable NHS for the future. This strategy must be based on four key principles – the four ‘Ps’ of personalised medicine. These are: Prediction and prevention of disease; More precise diagnoses; Targeted and personalised interventions; A more participatory role for patients.

Cancer treatments like Herceptin have already shown the power of coupling the right drugs with the right companion diagnostics – which identify the particular individuals for whom a particular therapy is most effective.

The foundations for a personalised medicine service across the NHS have been laid through the work of NHS Genomic Medicine Centres to support and deliver the 100,000 Genomes Project. Here technological advance – particularly Whole Genome Sequencing looking at an individual’s complete genetic code – is opening up a wealth of new diagnostic and therapeutic information. Clinical teams in the NHS are learning new approaches, for example how cancer could in the future be detected earlier through fragments of the tumour DNA in the circulating bloodstream.

However, this new information becomes really meaningful when we combine it with the information that is being generated by current diagnostic technologies and clinical examination and history that tell us about the impact of genetic changes on the individual’s functional response– an explanation for the signs and symptoms.

The NHS carries out more than a billion diagnostic tests every year, but we are only just learning the potential of all this information coming together to form an integrated picture over time – particularly when coupled with genomic sequence data.

Together these two elements will change the way the NHS will think and classify disease based on a detailed understanding of the underlying causes of health and ill health, and how they should be treated. This will require further development of the workforce to ensure they are able to respond to both the challenges and opportunities and the new skills sets that will be necessary to fully realise the ambitions.

The challenge for the NHS – and all health systems – is to keep up with the evolving needs of the populations they serve.

Currently we know individuals and families can wait too long to get the answers about their conditions – and even longer to find the best interventions to help them. By taking a strategic approach to developing a more personalised approach to medicine, building on the learning coming through from NHS Genomic Medicine Centres, this country will be one of the most scientifically advanced in the world in use of genomics and be well placed to significantly improve outcomes for patients and the public and have an informed approach to tackle the health challenges of the future.

  • About the 100,000 Genomes Project: There are currently 11 NHS GMCs in England contributing to the 100,000 Genomes Project, helping to study the molecular make-up of individuals through sequencing and analysing their whole genome – looking at an individual’s complete genetic code. This is to enable scientists and doctors to understand more about rare and inherited conditions and certain types of common cancer. The Project will also contribute to developing new treatments, and enhance the genomic diagnostic capability in the NHS.
  • Read a patient’s view on personalised care in a blog by Peter Grainger, a Patient and Public Involvement representative at St Mark’s Hospital, part of North West London Healthcare Trust.
Sue Hill

Professor Dame Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS (Hon) is the Chief Scientific Officer (CSO) for England and a respiratory scientist by background.

Throughout her career she has led on large-scale priority programmes across government and in NHS England including as the senior responsible officer for Genomics in the NHS, introducing a world-leading and nationwide Genomic Medicine Service, building on her work in heading up the NHS contribution to the 100,000 Genomes Project.

She has also played a pivotal role in the national COVID-19 programme leading the development and deployment of testing technologies into use for the UK population and co-directing the whole-genome sequencing of SARS-CoV-2 programme.


  1. Tony Bartlett says:

    It would be really good to know what the Chief Scientific Officer’s view is for the use of blood-based tests that capture status and future preventable/avoidable or reversible disease event risk, to complement life-risk assessment offered through genetic testing.

  2. Tony Bartlett says:

    If we could analyse those same blood samples that are collected by the Genomic Medicine Centre nurses, and banked, for proteomic signatures (based on comparisons of 5,000+ plasma protein measurements against existing signature databases with mechanistic insights) then I wonder if patients’ diagnosis could be accelerated and made actionable where mechanistically amenable to intervention? Leveraging the same GMC resources could also perhaps be considered for routine screening of patients with other high cost chronic diseases (Health Check) where are move towards prevention could offer the best impact on resource utilisation and maximise (preventative) interventional outcomes.