Medicine, data and technology

What if every patient were to have their genome mapped?

As the futurologist and science fiction writer, Arthur C Clarke, wrote, ‘The only way of discovering the limits of the possible is to venture a little way past them into the impossible.’ It has been more than 10 years since the reality of genomic sequencing stirred the imaginations of many in health and life sciences, but we are only now venturing into the exciting future that this promised.

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Professor Lord Ara Darzi of Denham

Paul Hamlyn Chair of Surgery and Director of the Institute of Global Health Innovation, Imperial College London

Dr Oliver Keown

Clinical Adviser and Policy Fellow at the Institute of Global Health Innovation, Imperial College London

Precision health – where treatments or prevention can be targeted to take account of individual variability in genes, environment and lifestyle – will transform health care economies around the world. It will spur innovation, while provoking important ethical and social debates that will require significant public engagement and leadership to co-develop sound and sustainable practices. The opportunity is certainly great and the future is upon us.

So, what would our health care system look like if every patient in the NHS had their genome mapped? Sequencing an individual’s genome is one of the foundations of precision health and is fast becoming financially viable: we have seen exponential advances in technology that have transformed the cost of sequencing an individual’s genetic information from more than £2 billion in 1990 to around £750 in 2016. The speed at which sequencing takes place has also been transformed: the first human genome took around 13 years to sequence, now it takes only a day or so.

In parallel, we have witnessed the birth of powerful new ‘-omics’ research platforms that provide new data and insights from the complex interactions of each person’s individual ‘fingerprint’ of proteins, metabolites and gut microbes. Combined with profound advances in computing power, machine learning, data analytics and meaningful interoperability of information technology systems – including new repositories of behavioural and lifestyle data from connected ‘everyday’ devices – we have the building blocks for a new era of precision health. An era that promises to bypass ‘trial and error’ or ‘one size fits all’ treatments and reactive models of care for patients who are already sick. Instead, providing an alternative, broader suite of tailored diagnostics, treatments and preventive health interventions that are precisely adapted to our innate human variability, at both the individual and the population level.

Precision health will enable us to give people individually targeted health information and treatment that will allow them to live as healthily as possible as they move through life.

To this end, precision health will enable us to give people individually targeted health information and treatment that will allow them to live as healthily as possible as they move through life. Using a wealth of genomic, clinical and behavioural data it will be possible to identify those with the genetic predisposition for chronic diseases, such as cancer, diabetes, hypertension and even mental health conditions. This will help guide preventive measures and precision treatments to stop illnesses before they even develop. Clinical decision support tools will help patients and clinicians to work together to modify behaviours, treatments and care plans based on their genomic and personal information. Mobile phones and digital health applications will capture ambient clinical and lifestyle data, such as how much we exercise, that will transform remote care outside the hospital setting. This will enable more frequent and automated monitoring of conditions such as diabetes, where early detection and predictive escalation of patients who are deteriorating will have a profound impact on outcomes and wellbeing.

Advances in precision pharmaceuticals will ensure only the safest and most effective drugs, optimised to our individual genomes, are administered, while precision nutrition and diets aimed at altering the composition of our gut micro-flora will offer exciting and cost-effective ways of shifting the course of many diseases, modifying our long-term risk for a plethora of conditions. Furthermore, advances in therapies that enable the editing of the human genome, such as CRISPR, will reverse and effectively cure many heritable disorders, while non-invasive point-of-care testing using rapid genomic sequencing will transform infection control and the burden of antimicrobial resistance, allowing health care workers to accurately characterise infections and optimise therapy in real-time.

The health care system of tomorrow will become a continuously learning system that targets lifestyle advice, personalised health care interventions, public health campaigns and population-wide health screening to those who will benefit most.

These are just some of the innovations that will transform health at the individual level. However, it is the management of population health that can offer a paradigm shift towards health promotion and away from the reactive management of disease. Just as our search engines and banks optimise offerings and products based on our personal data and online usage, the health care system of tomorrow will become a continuously learning system that targets lifestyle advice, personalised health care interventions, public health campaigns and population-wide health screening to those who will benefit most.

To enable this, the burgeoning amounts of data – captured dynamically over healthy lifetimes and during the course of disease – will need to be evaluated and interpreted, which will require new algorithms to be developed using machine learning and advances in artificial intelligence. This in turn will drive demographic shifts in the health care workforce with new cadres of health care professionals having advanced computing and analytical skills and a shift in traditional doctor–patient relationships – in which the ‘power’ rests with the doctor – towards new models of interaction whereby patients, the guardians of their own data, become active co-developers of their long-term precision health plans.

Of course, it’s one thing to describe a visionary future for health care in the context of genomic medicine and precision health, but it’s another to face the reality and challenges of implementing and scaling an entirely new system of care. There are fundamental ethical considerations that must be addressed in the years to come through open and transparent public engagement.

The public will need to be engaged across all these important issues and empowered with an understanding of the enormous potential benefits of precision health.

Critical debates will undoubtedly arise over genetic testing and risk profiling for conditions for which treatments are not readily available. Beyond that, there are system-related issues on the accountability of personal health care risk and informed consent for patients and the public who will be engaging in an active system of research and discovery that relies on vast quantities of recorded personal data. There are social implications regarding public trust and confidence in new pathways of care and models of health education in a prevention-orientated system which, crucially, must ensure fairness and equity to benefit all elements of society. Finally, there are the legal and safeguarding issues of data ownership, including the need for robust frameworks of data privacy, security and sharing to ensure safety and protection of the public at all times, while enabling the benefits of a connected system. The public will need to be engaged across all these important issues and empowered with an understanding of the enormous potential benefits of precision health, as well as its limitations, so that they can have the knowledge and tools required to make informed and sound choices.

So, how will we get there? The genomic sequencing of patients and, ultimately, the public is certainly a start, but creating a system for precision health will require an entire ecosystem of activity. Leading programmes like the United Kingdom’s 100,000 Genomes Project and the Qatar Genome Programme serve as international exemplars of the national leadership and collaborative approach with industry, academia and health care providers that will ultimately lay the foundation for population-scale genome mapping. We have some way to go before these programmes provide meaningful platforms for the development of precision health and there are numerous questions to ask ourselves in terms of the implications of a revolutionary new model of health care. However, the ingredients and will certainly exist to realise the impossible, now more than ever.

The views expressed in this article are those of the authors and are not presented as those of The King’s Fund. We have commissioned external authors to write for ‘The NHS if’ series as a way of presenting different perspectives on the future of health and care. We welcome a diversity of views on this issue and encourage you to leave your comments below.

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‘The NHS if’ is a collection of essays published by The King’s Fund that explores hypothetical scenarios and their impact on the future of health and care.

We are asking a small number of experts – some of them members of staff at The King’s Fund and others external experts in their fields – to write short essays that consider ‘what if’ questions about health and care in England. We’ll be publishing these essays on this website throughout 2016.

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