Ten Genomic Medicine and the Remaking of Human Health

The contemporary development of genomics – the decoding of our DNA – marks an important turning point in how we understand the human. This is nowhere more apparent than in the UK, which is leading the world in investing in and developing powerful genomic technology platforms that may have profound consequences for the future of healthcare, civil liberties and personal identity. While these developments have been gestating for two decades, they matured and moved centre stage during the pandemic with the massive increase in gene sequencing for tracking Coronavirus. This chapter will examine the social implications of the growing use of genomics and gene-based screening technologies, and analyse how they are contributing to an important shift in how we understand human health. This emphasizes the biological and individualized nature of disease in contrast to the social determinants of health and illness, supporting an increasingly biomedicalized understanding of the human.

The massive public and private investment in genomics over recent years is inspired by a vision of so called ‘personalized medicine’, where treatment is guided by a knowledge of an individual’s genetic makeup. This is used to assess the risk of disease, design better treatment regimens and predict response to therapy. It is being enabled by the growth of targeted therapeutics and gene-based diagnostics that stratify patients and diseases into discrete sub-populations. This utopian imaginary also aims to improve public health by enabling new forms of population surveillance based on genetic risk profiling and reproductive ‘choice’ through improved antenatal screening. For its advocates this offers hope for a new kind of medicine which identifies the underlying cause of many diseases as being within the body, rather than in the external environment.

The development of genomic medicine is an international phenomenon, being actively pursued in North America, Europe and East Asia. It is driven by major government investment, as well as novel forms of public-private collaboration, and is best illustrated in the UK, which is establishing itself as a global leader.

Over recent years, a series of large-scale projects have started to develop the core infrastructure for the widespread adoption of genomic medicine in the UK National Health Service (NHS). This has been accompanied by a critique of the NHS as being unresponsive and needing major service transformation through the rapid adoption of new technologies and an innovation culture. At the same time, the NHS has also been recast as a site for the production of new forms of economic value based on the exploitation of digital assets, such as patient data. A pattern of radical service transformation is now visible, with the adoption of genomics and related technologies driven by new organizations and programmes within the public sector that are run on business principles. This growth of genomics is being accompanied by increasing commercialization and digitization of the public sphere and was greatly boosted using gene sequencing to track COVID-19.

One of the most valuable ways to understand the dynamics of a viral pandemic is to track how new variants arise and spread in a population. This can be done in detail by sequencing the viruses that infect large numbers of people. The UK was able to use the genomics infrastructure it was establishing to rapidly start such viral sequencing on a mass scale. This was done by the COVID-19 Genomics UK Consortium (COG-UK), a network of mainly public sector agencies and laboratories that aimed to establish a comprehensive national pathogen surveillance system. By August 2021 it had sequenced over 750,000 viral genomes, the second highest number in the world. In addition to establishing routine population surveillance using genomics, the pandemic also provided an important political opportunity to increase the speed and scale of investment in genomics more generally. This was made possible by greater public willingness to accept population screening, the normalization of gene sequencing, and support for collaboration with a biopharmaceutical industry that had played a key role in developing vaccines.

This increased activity was focused around three key programmes: Genomics England was established in 2013 as a company operating as a business within the Department of Health, and delivered the first major whole genome sequencing (WGS) project in the world. This involved decoding every base pair in the genomes of 100,000 UK patients, and was focused on cancer and rare diseases. It provided detailed information on the genetic makeup of patients that can be linked to medical records to help diagnose disease and direct treatment. However, the extent of the clinical utility of this has yet to be fully established. This project laid the foundation for the creation of the NHS Genomic Medical Service (GMS) in April 2020, which seeks to fully sequence between 500,000 and 5 million UK patients by 2024 (Genomics England, 2018), including all children with cancer or those seriously ill with a likely genetic disorder. In addition, there is a commitment to WGS all 500,000 participants in the already established UK Biobank – one of the biggest gene-environment studies ever undertaken. The GMS seeks to bring genomics into the mainstream of UK healthcare by extending access to molecular diagnostics and offering genomic testing routinely to all people with cancer, as well as other ‘high risk’ conditions such as Familial Hypocholesterolaemia. Most significantly, it will oversee the linking of genomic to other forms of personal medical data.

A central pillar of personalized medicine is data integration to help stratify patient populations into disease sub-types. The UK has established a massive data infrastructure within the NHS to support clinical decision making and efficient and effective healthcare delivery. The NHS Spine and the Data Processing Services are the main digital platforms and are linked to a series of large-scale databases, that include information on hospital patients and their treatment. The privacy of patient data is supposed to be protected by this being de-identified when processed or shared. In 2021 the UK government announced that it would create a new centralized database (GPDPR) containing the GP records of 61 million patients, that could then be linked to other datasets and shared with researchers and companies on an anonymized basis. This proposal is highly controversial and has yet to be ratified as it operates using presumed consent with patients being able to opt out (Marsh, 2021).

One of the most important potential applications of genomics is in the detection and diagnosis of diseases, as clearly demonstrated by its use in tracking and diagnosing people infected by COVID-19. In addition to the use of genomics to screen newborns, there are proposals to adopt this more widely. The Accelerating Detection of Disease challenge was launched in 2020 as the largest project of its kind in the world and aims to recruit 5 million UK citizens who will participate in a study to improve the early diagnosis of common diseases, such as dementia, cancer, diabetes, and heart disease. It will be organized through a charity – Our Future Health – which will collaborate closely with industrial partners to give public and private sector researchers access to data. Patients will be recruited via routine care and genomic information will be collected and linked to their medical records. These data will be used to create polygenic risk scores, which aim to identify those patients most likely to get certain diseases. These scores will be used to direct therapy and help create new commercial diagnostic products.

The same logic is being applied to COVID-19, with the international COVID-19 Host Genetics Initiative seeking to identify genetic risk factors that greatly increase an individual’s chance of becoming seriously ill. Already companies are developing tests based on these risk scores that can be used to identify people who are most vulnerable. If successful, such technologies could divide the population so that some people would shelter and everyone else would lead a normal life (Callaway, 2021). This could have huge social implications. However, the validity of genomic risk profiling is unproven and remains controversial.

Many aspects of these programmes are still ‘in the making’ but provide a sense of both the direction of travel and the scale of investment in building these new products and services. However, while they may provide a valuable resource for research and important insights into health and disease, they raise major concerns. Firstly, many of the claimed benefits of genomic medicine have yet to be clearly demonstrated and are largely promissory, with any health gains only being fully realized in the longer term. In particular, the central paradigm of ‘screen and prevent’, which justifies the surveillance of large populations to detect those at high risk and offer prophylactic therapy, is far from proven. Experience from established screening programmes suggests that this is difficult to achieve. Furthermore, the priority given to this form of high-tech medicine is in danger of distorting healthcare priorities and diverting scarce resources away from less glamorous but more effective interventions that offer immediate benefits at a time of very limited NHS funding. Secondly, there are growing concerns about the increasing commercialization of the NHS. The initiatives described involve close collaboration with industry to undertake sequencing and data analysis. It is not clear that public and private interests are always aligned, and there may be significant conflicts of interest when UK patients and their personal data are being used to test potentially expensive new products. Thirdly, these programmes raise important issues about data access, privacy and security, given the long history of data breaches and unauthorized use of NHS patient records by third parties, including insurance companies (MedConfidential, 2021).

Perhaps the most important consequence of building this genomic and data infrastructure is the associated shift in how we understand human health, and the priority given to a certain type of health future. The focus of genomic medicine is on the internal workings of the body, reinforcing a discourse that the health problems we suffer are biologically determined, with disease and illness being the result of our genetic makeup. This shifts the emphasis onto personal responsibility for leading a healthy life and obscures the way in which many illnesses are the result of social and environmental conditions. In doing so, it naturalizes inequalities in health which are the result of the unequal distribution of wealth. It also justifies much greater surveillance of populations and their stratification into different high-risk groups that are then prescribed prophylactic drug therapy, offered ‘lifestyle’ interventions, or segregated. This also hides the powerful role that socioeconomic factors play in making people ill while creating new markets for pharmaceutical products.

In the UK the pandemic has only reinforced these narratives about the origins of disease and how we should respond to them. Policy increasingly emphasizes how some people are innately more vulnerable than others, and why we should take individual rather than collective responsibility for managing risk. The investment in genomics both reflects and feeds into this framing of humans as biological subjects. An alternative approach urgently needs to be developed that draws on the insights from this powerful new science, but which sees humans as deeply social and many health problems stemming from the way we organize our societies rather than our genetic inheritance.