A new social contract for Generation Genome?

The Chief Medical Officer, Dame Sally Davies, has published today her latest Annual Report, Generation Genome. It brings together independently authored chapters with an overview from the CMO reflecting on them and making recommendations for future policy. She sees the 100,000 Genome Project as an important showcase for what can be achieved through standardisation and coordination to provide the infrastructure that enables genomic medicine to move from a fragmented set of loosely connected ‘cottage industries’ into a comprehensive service that can make ‘precision medicine’ available to all those who can benefit from it. Examples of how this works are drawn from specific chapters on drug development, increased accuracy of cancer diagnosis, the acceleration of diagnostic processes for those affected by rare diseases, the understanding of obesity, and the opportunities for personalised prevention. Public health opportunities are identified in relation to the genomics of pathogens, although the technical, financial and logistical barriers for wider take up are recognised to be significant. Three chapters explore the role of genomics in screening; in cancer, newborns, and non-invasive prenatal testing. The Council’s work on NIPT is commended as ‘comprehensive’, with its conclusions on the need for careful evaluation of developments specifically endorsed by the CMO (Chapter 1, p 15). Its earlier work on Genetic Screening (1993) is also acknowledged as informing the CMO’s thinking about genetic testing and insurance (chapter 15).

Many of the chapters in Dame Sally’s report are technical, but underlying her analysis is an intention to reframe the debate about genomic medicine in two ways. First, that it promises benefits for individuals; it is no longer to be considered as experimental pipe dream, nor as a carrot to dangle before international investors. The point of genomic medicine is to improve the services that the NHS provides, and the report shows that this is now a realistic prospect. She invites citizens to become engaged in genomics because they stand to gain from such improvements, not purely for altruistic reasons. This links to the second reframing that she seeks to achieve. Here she wants us to think differently about the debate concerning the use of health data, to move away from the language of ‘data sharing’ under which we focus on the way in which data is processed, and by whom, towards public discussion of the optimum way to use genomic information to improve services for mutual gain.

The report recommends that both public and Government engagement with genomics should be enhanced, the latter through a new National Genomics Board. This would be chaired by a Minister, aimed to ensure that patient and public interest is a key priority, co-ordinating genomic research, industrial development, appropriate regulation, and facilitating partnership between NHS England and Genomics England. In particular, Dame Sally recommends that these two organisations ‘should engage in an extensive public dialogue on the shared social contract between patient, public, clinicians and academics in relation to genomic medicine’.

This idea is developed in the Report’s final chapter, ‘Ethics and the Social Contract for Genomics in the NHS’, which I co-authored with former Council member Anneke Lucassen and Mike Parker (who sat on the Council’s biodata working party). We drew heavily on the Council’s thinking and also on earlier work from the Human Genetics Commission concerning ‘Genomic Citizenship’, with its elements of participation, altruism and solidarity (p 114). This enables the due recognition of common interests, but requires action to protect individual privacy (including improved information governance) and to guard against non-exploitation.

We adopted the Council’s position on the need for a public statement on the purposes and expectations of the initiative to use genomic data as the foundation for precision medicine. This needs to provide a non-hyped explanation of benefits we hope for (and the chapters in the CMO report go a considerable way toward this). It would be then necessary to establish that this purpose was mutually acceptable to those about whom data is being collated. We argue that this should be understood as a reframing of the implicit social contract that underpins our health services. We note that this is consistent with the founding principles of the NHS to democratise services assuring excellent care for all. We suggest that this can be elaborated through public conversation, as was done when the NHS Constitution was developed.

At the root of this new social contract is a need to revise our understandings of traditional concepts of consent, confidentiality and duties of care. For reasons that the Council’s report on biodata explained, informed consent is no longer an adequate tool for data governance. Amongst other reasons, this is because of uncertainty about what is currently significant and the certainty that this will change in the future. Our chapter for the CMO’s Report suggests that we should think about the individual providing a ‘broad consent’ that is a permission to proceed (‘something they would like to pursue’) so as to enter ‘a relationship with agreed ground rules about mutual responsibilities and rights’ and with continuing oversight.

We explore how the reframing of the question into how to explain the proper use of information enables consideration of ways of drawing on familial information without compromising privacy (various case studies are offered). A ‘secrecy model’ of confidentiality will cut patients off from opportunities. We need to recognise the importance of access to data and address one of the paradoxes of personalised medicine; that it requires collation of personal information on a large scale in order to be able to give advice to individuals based on their variation from the reference norms. We argue that this means that a clear distinction between research and clinical care cannot deliver genomic medicine. Clinical care generates and relies upon collation of data. Thus, care is also providing evidence to improve our understanding. Research will routinely produce information that is clinically significant. We need to make these systems work for patients in conjunction rather than sequentially. This will only be acceptable if health systems accept their responsibilities for improving information security and governance, including transparency and accountability. This will need to clarify patient’s rights to control data usage but also when there needs to be collective decision-making about the design of the system.

The Council’s contribution to this line of thought, which was adopted by Dame Sally in her recommendations, is clear.