These scientific ambitions are very much in tune with the current ‘health and wealth’ Westminster agenda, seeking to build on British science for both economic and health benefits for the population. PHE is right to recognise the importance of cutting-edge science in delivering such benefits; used properly, it can also play a critical role in underpinning PHE’s aim of improving prevention and helping to steer the NHS towards a sustainable future. But can PHE also harness their scientific excellence effectively?
Many of PHE’s aims fall into the area they term ‘protecting and improving the nation’s health’; these are all very worthy, and they place much emphasis on the importance of cutting edge research and prevention. In light of this it is a pity that they make almost no mention of the role that genomics and other new biomedical science could play, particularly as there is currently so much research investment in the genomics of common chronic and rare diseases, cancer and infectious disease, and widespread expectation of the transformation that more personalised medicine and preventive healthcare could bring.
Using genomics to combat infectious diseases
The most important and obvious area (and the only one mentioned in the plan) is the context of infectious disease where genome sequencing could indeed transform practice, having a major impact on clinical care of infectious disease, outbreak detection and management and detection and control of antimicrobial resistance. But this requires so much more than just delivering ‘routine genome sequencing of specific infectious organisms, enabling developments in whole genome sequencing as part of the 100,000 Genomes Project’ as they state.
An opportunity lost?
The UK has an opportunity to lead the world in the implementation of pathogen genomics, but only if it invests in a nationally coordinated system of pathogen genomics service development and delivery, underpinned by robust measures to support integration and sharing of genomic data between different laboratories and other sources. Our recently published report, Pathogen Genomes Into Practice , urged PHE to step up and provide a lead on this, whilst working closely with leaders at NHS England, the Animal and Plant Health Agency (APHA) and ‘grassroots providers’ responsible for infectious disease management and protecting the nation’s health. We trust that, despite its absence in this high level Annual Plan, there will be more detail about their aspirations for infectious disease services and how genomics fits into this in future strategy documents in this area.
We might also have hoped to hear something about biomedical science and technologies in their discussion of ‘evidence based’ approaches and the translation of research into frontline applications that may be used in health protection, health improvement and sustainable healthcare. Genomics is a crucial element of many new diagnostic technologies. In all the excitement of the 100,000 Genomes Project – and in the light of PHE’s stated intention to deliver ‘routine genome sequencing’ as part of it - it seems strange that PHE has failed to engage with its potential.
The potential of genomics for public health
We believe that genomics and other new technologies have the power to transform medicine, but only if embraced in a ‘whole service’ way, being used to re-engineer patient pathways, enabling earlier and more accurate diagnosis and even identifying individuals at risk with a view to prevention or very early detection of disease. The PHE focus on prevention naturally looks to modifiable disease factors in the fight against major public health burdens such as obesity, but this doesn’t mean that genomics and other biotechnology can’t offer additional tools. Linking to developments in patient empowerment, personalised medicine and digital health to look at the potential for personalised prevention is an important direction for public health.
In short, we remain disappointed that in this whole report, there is only one brief mention of genomics. We do not believe that it is of no value to future population health, and can only assume that, of the 5,000 staff employed by PHE and in the 100 different organisations noted, there are very few who understand or will speak for its potential. This seems paradoxical, in the light of the massive public investment in genomics research. It seems that the PHG Foundation is the only public health focused organisation willing or able to speak up for genomics in this context – and we would welcome a public debate.