The 100,000 Genomes Project: shaping genomic medicine in the NHS

Jarmo de Vries, Science, Technology and Innovation Studies, University of Edinburgh

With the advent of the NHS Genomic Medicine Service (GMS), NHS England is transforming the organisation of it genetic testing services. As part of my PhD project, I am studying how this signifies the emergence of a new knowledge-control regime, a sociotechnical arrangement ‘that constitutes categories of agents, spaces, objects, and relationships among them in a manner that allocates entitlements and burdens pertaining to knowledge’ (Hilgartner 2017: p. 9). In this new knowledge-control regime, the organisation of genetic and genomic testing services is being centralised, the production of genomic data becomes key, the control of this data is placed outside the NHS, and new actors become important in the analysis and interpretation of genomic data. The origins of the GMS and aspects of this new knowledge-control regime can be traced to the 100,000 Genomes Project (100kGP) and to several UK policy reports produced following the completion of the Human Genome Project. The 100kGP was a project announced in 2012 to sequence the whole genome of 100,000 NHS patients and aimed to make the implementation of whole-genome sequencing possible in the NHS and to lay the groundwork for the GMS (Genomics England, 2014). I will discuss how these visions of genetic and genomic medicine led to the announcement of the 100kGP and indicate changes in the knowledge-control regime that emerge in them.

Let me start with the White Paper Our Inheritance, Our Future that was published in 2003 by the Department of Health just after the completion of the Human Genome Project (Department of Health, 2003). This report talks about a projected revolution in healthcare that would be enabled by genetic technologies, a future in which genetic testing becomes a routine part of mainstream NHS services, and outlines an ambition for the NHS to become a world leader in genetics. More importantly, it also started to discuss potential changes to genetic laboratory services. The White Paper recognised that it did not need to happen immediately, but set out considerations for future genetic testing services: the centralisation of laboratories and services, closing certain laboratories, establishing divisions of labour across laboratories, and involving the private sector. This foreshadows some of the changes that the GMS brings, especially the centralisation of laboratory services and collaborations with the private sector.

A few months after the White Paper was published, the Bioscience 2015 report was published by the Bioscience Innovation and Growth Team (BIGT) set up by the Departments of Health and of Trade and Industry (BIGT, 2003). This report develops the aim to make the UK a global leader in the life sciences, to stimulate the bioscience industry and the UK economy, and to improve healthcare, including through personalised and preventative medicine. In it, the NHS is seen as an asset for developing a bioscience industry by potentially providing access to a large patient pool for clinical trials and research (BIGT 2003: p. 13). However, a lack of support for innovation in the NHS was stated as a barrier for their plans. While this was not discussed further, it implied the need for a culture change in the NHS. This was a recurrent theme in later reports. Overall, the plans for making genetic testing routine in the NHS cannot be seen separately from plans such as Bioscience 2015.

The House of Lords Genomic Medicine Report from 2009 is key for how the future of genomics and genetic testing has been envisioned in the UK (House of Lords, 2009). It is the first report that explicitly asked for funding to study the implementation of genomic technologies in the NHS and for something like the 100kGP. Furthermore, it put the implementation of genomic technologies in the context of making the NHS more innovative and creating collaborations between the NHS and private companies. To do this it suggested that a cultural change in the NHS was needed to achieve a ‘real commitment to research’ and to develop a ‘culture of innovation’ (House of Lords, 2009: section 3.13). Part of this process of cultural change would be to the overcome the perceived lack of translation in the NHS, which is seen as the development and implementation of healthcare products and treatments from basic research. Only by improving this, they argued, could the NHS and the UK gain the full economic and health benefits from health research. So, the NHS was again seen as a barrier to the successful implementation of genomic technologies. As a result, organisational changes in the NHS were proposed to overcome these supposed challenges. Interestingly, historical research into medical genetics actually sketches a different picture of the relationship between research and care in the NHS. For example, Sturdy discusses the development of molecular oncology in the UK and shows the close involvement of clinical geneticists in its development in the NHS. It was not just a one-directional movement from research to care but instead depended on both clinical and laboratory expertise for both the development of research and clinical services. It shows that medical genetics in the NHS were historically involved with research and this can serve as a counter point against the claims that the NHS has no commitment to research and for how translation and innovation are often perceived as this one-directional process.

The House of Lords report mainly focused on reorganising the laboratory services. In his oral evidence to the Lords committee, prominent medical geneticist and scientific administrator Professor John Bell made an explicit call to reorganise laboratory services. He called existing provision ‘severely fragmented’, stated that there is ‘an urgent need therefore to rationalise the management of these’, and that a ‘single clinical service structure is imperative to ensure that there is a coherent approach to these methodologies within the NHS’ (House of Lords, 2009: section 4.38). His involvement and views are important. Following this report he was appointed as chair of the Human Genomics Strategy Group that was tasked to develop a vision for genomics in the NHS. It is not surprising, therefore, that his vision – reflected in the House of Lords report – was prominent in the report produced by the Human Genomics Strategy Group in 2012.

The Human Genomics Strategy Group report recommended that the NHS prepare for an imminent implementation of genomic testing, produce a centralised genomic database and to develop a new service delivery model for genomic and genetic testing (Human Genomics Strategy Group, 2012). It followed the earlier recommendation of the House of Lords reports, but was also more specific in describing what a new genetic testing service should look like. It proposed that the laboratory services be taken away from the Regional Genetic Centres, which carried out most of the testing. Instead, a new type of laboratory would become responsible for all types of genetic testing, including ones not performed by the Regional Genetic Centres. Furthermore, these plans suggested a reduction of the number of laboratories servicing the NHS and for some specialist tests to only be done by specific accredited laboratories. The report also suggested that, increasingly, private sector providers should be used, but did not explain how or under what circumstances. The Regional Genetic Centres would mainly become hubs for the provision of clinical genetic services, managing familial disease, and offering support and expertise to other clinical disciplines. A reduction of their overall numbers was not ruled out either. This report was the first to suggest a specific reorganisation of genetic testing in the NHS, building on previous calls for centralisation.

The plans outlined in the Human Genomics Strategy Group report were supported by the UK government and at least some parts of NHS England. At the end of 2012, another report was published that set out plans to sequence 100,000 whole genomes of NHS patients, the 100kGP, and to lay the groundwork for routine genomic testing in the NHS. This update on the Strategy for UK Life Sciences was introduced by then Prime Minister David Cameron and also again John Bell as a Life Science Champion (HM Government, 2012). It set out three main goals, to:

1) harness the potential of genomic technology by the NHS to improve patient outcomes and healthcare;

2) maximise the opportunities for research and translation of research findings into health and economic benefits for the UK; and

3) support the growth of UK genomics and bioinformatics companies, including SMEs by enabling the creation of genomic platforms for innovation (HM Government, 2012: p. 44/45).

In this way, the UK government continued the ambitions and visions laid out for genomics in previous reports. The 100kGP can also be seen as following the recommendation of the House of Lords and the Human Genomics Strategy Group to fund a study for the implementation of genomic medicine. The 100kGP seems, therefore, to be the outcome of a perceived translational gap between research and clinic, an ambition of the UK government to stimulate and form a profitable life sciences industry, and the vision to make genomics a mainstream part of medicine. These visions seems to be underlying the reorganisation of the genetic testing services in the NHS as well and the specific structure and organisation of the 100kGP and the GMS. This I plan to discuss in a later blog post.

References

BIGT, 2003. Bioscience 2015: Improving National Health, Increasing National Wealth. Executive Summary

Department of Health, 2003. Our Inheritance, Our Future: Realising the potential of genetics in the NHS.

Genomics England, 2014. The 100,000 Genomes Project.

Hilgartner, S., 2017. Reordering Life: Knowledge and Control in the Genomics Revolution. The MIT Press.

HM Government, 2012. Strategy for UK Life Sciences: One Year On.

House of Lords, 2009. Genomic Medicine – Volume I: Report (Science and Technology Committee No. 2), Session 2008–09.

Human Genomics Strategy Group, 2012. Building on our inheritance: Genomic technology in healthcare.

Sturdy, S., 2021. Local mutations: on the tentative beginnings of molecular oncology in Britain 1980–2000. New Genetics and Society, 40 (1), 1–19.

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