The future of precision medicine part 3: translation from research to the clinic

The previous instalments in this series ( part 1 and part 2) on the challenges and opportunities faced by precision medicine discussed the capabilities and limitations of precision medicine and the challenges posed by the need for large quantities of diverse, high quality data.

However, as centrally important as data is to the development of precision medicine approaches, the data alone simply lay a foundation that must be built upon through the research and development of new diagnostics, treatments and clinical approaches. In addition, before the benefits of such advances in the lab can be felt out in the world, they must be translated into changes in clinical practice.

This third instalment in the series discusses the practical issues that will need to be addressed along the way.

Translation and disruption

The implementation of precision medicine represents a huge, possibly unprecedented, challenge to conventional clinical practice across the breadth of healthcare disciplines. Integrating the principles of precision medicine will require a paradigm shift in the approach of healthcare professionals (HCPs) to both diagnosis and treatment; one which will require significant investment and fundamental changes to existing systems and ways of thinking in order to fully realise its potential.

While highlighting the need to embrace these new ways of thinking, leading speakers at the Westminster Health Forum (WHF) keynote seminar in December last year suggested that this will not be a simple, easy or painless process.

Stephen Powis, chief medical officer of the Royal Free London NHS Foundation Trust, described the innovation cycle theory, which is broken down into three phases: a phase of overpromising, followed by a phase of under-delivery, before a final phase of over-delivery, in which the changes resulting from the innovation end up being far more significant than had been expected at the start.

He cited the genomic and digital healthcare revolutions as potentially both being on the cusp of the final phase and noted that huge change is coming in the next five to ten years, and will do so at pace.

It remains to be seen where precision medicine currently sits in this cycle, and how long each stage will last.

Nonetheless, it will be important to persist in investing in the field, even if expectations outstrip returns in the short term. This is particularly the case given that the initial implementation stage is where large up-front investments will be required and where the growing pains occasioned by necessary changes will be most keenly felt.

The scale of the task to bring precision medicine technologies through to realisation is such that cooperation between the public and private sectors will be essential, with each having a different and important part to play. This was a point emphasised at the WHF by Sir Munir Pirmohamed, NHS chair of pharmacogenetics, and Sir John Chisholm, executive chair of Genomics England.

The private sector will play a key role in assuming risk and allocating resources to promising areas of research, while government’s role will be funding public “big science” data projects (such as the Genomics England 100,000 Genomes Project) and in creating a supportive research and healthcare infrastructure to encourage such research and investment.

Expectation and understanding

Fundamentally, effective translation of concepts from the research lab to the clinic will require increased alignment between the expectations and values of the research community and those in the clinic. At present, there continues to be a degree of disjunction between the two, even in respect of what the term “precision medicine” means, or should mean, and how it is used.

As Kadija Ferryman and Mikaela Pitcan observe in their white paper primer on precision medicine on behalf of the Data & Society Research Institute, “To date, the clinical community’s definition of, and approach to, precision medicine has focused almost exclusively on genetics, whereas the biomedical research community has taken a more expansive approach to precision medicine.”

Discussion at the World Economic Forum (WEF) in January this year between Scott Gottlieb, commissioner of the Food and Drug Administration (FDA) and Nancy Brown, CEO of the American Heart Association, vividly illustrated this difference in perception and experience that can exist at times between the research community pushing the scientific envelope of progress and the clinical community working at the coalface of healthcare.

Gottlieb acknowledged that there is a major challenge in getting information from the research community into a form that clinicians and other HCPs can act on, and the role that regulators such as the FDA play in that process.

However, he commented, he was a little perplexed that clinical providers have sometimes been slow to update their own guidelines in response to developments in the research community.

Brown, speaking from the perspective of the clinical community and from her experience as an author of cardiac guidelines, was quick to point out that the amendment of guidelines is a major decision that must not be taken lightly. Such amendments affect not only clinical practice but also directly affect patients and their understanding and experience of their own condition, especially when the change involved is a definitional one.

Accordingly, to appropriately assess the impact of a change in guidelines on the broader set of stakeholders, and to ensure the changes are the right thing to do for both patients and providers, HCPs need to take the time to carefully assess the evidence, which results in clinical practice necessarily lagging a little behind the research community that often produces such new evidence.

It is clear that even the most well informed and intentioned actors are not immune from misunderstandings and misconceptions stemming from the divide between research and clinical experience. The effective translation of precision medicine from theory into clinical practice will require a partnership of mutual education and appreciation of both research and clinical perspectives.

Investing in the education of the new healthcare workforce

To address the many challenges of precision medicine will require investment not only in data and infrastructure, but perhaps most importantly, in people—ie, the HCPs who will be charged with putting the principles of precision medicine into clinical practice.

Current HCPs operating according to traditional diagnosis and treatment paradigms will require up-skilling, in the form of training and clear guidelines on how best to introduce and implement new precision approaches into their practice.

At the same time, precision medicine approaches will need to become a fundamental part of the education of the next generation of HCPs. This should be a collaborative and consultative process, where the bodies charged with overseeing and facilitating this education work with different disciplines within the HCP community to identify the respective needs of each clinical group in relation to genetic and precision medicine training. In this way, education programmes may be appropriately adapted to deliver useful, tailored information in the right way and with the right practical and theoretical content for the target group.

In the UK, the NHS’s Genomics Education Programme has been working to achieve these aims, with funding of £20 million ($26 million) from 2014 to 2018 (and a further funding package being agreed at the time of writing).

At the WHF, Anneke Seller, scientific director of the Genomics Education Programme, described the programme’s strategic approach to its aim of up-skilling the NHS workforce in terms of different pipelines:

Seller emphasised that the solution to the up-skilling challenge lies in innovation in the development of specialised training resources and tools to facilitate wider raising of awareness.

It is appropriate and necessary that innovation in research and clinical practice should be mirrored by innovation in education and training, in order to empower healthcare workforces with the skills and understanding needed to rollout a precision medicine approach globally as the new standard of care.

Changing decades of established clinical practice carried out by millions of HCPs around the world is no mean feat. It will require substantial investment over a sustained period, in the current workforce and in that of the future.

It will also require ongoing accurate and practical training and information to ensure HCPs are provided with the appropriate guidance, tools and up-to-date information to implement precision medicine in clinical practice, without the risk of “analysis paralysis” through sheer weight of information and the multitude of new treatment modalities that will emerge.

Having now considered the role of data and some of the issues involved in the translation of research into clinical practice, we turn next to the topic of diagnostics.

While there is rightly much excitement about the possibilities that precision medicine approaches open up for clinical treatment, it is important to recognise that precision treatments must go hand in hand with precision diagnostics, as the necessary means enabling HCPs to choose the most suitable treatment for an individual patent, among a growing arsenal precision treatment options.

However, the development and implementation of clinical diagnostics involves significant economic and practical challenges, as the next instalment in this series will explore.

Daniel Lim is a partner at Kirkland & Ellis. He can be contacted at:  daniel.lim@kirkland.com