Written evidence for the Genomics and Genome-Editing Inquiry of the House of Commons Science and Technology Committee.
Ethics and Genetics is an independent, non-profit organisation. We champion democratic participation, transparency, and responsibility in the governance of biotechnology and the life sciences.
- UK biosciences policy has become increasingly motivated by economic considerations in recent years, at the expense, we believe, of deliberative (substantive) public consultation (and broader deliberation)
- Freedom of Information requests show that the 100,000 Genome Project misinformed participants and the public as to the nature of access to genomic data granted to third parties
- Genome editing raises major ethical concerns which require comparable public deliberation, prior to which all further research should be prohibited
Three years have passed since the government revealed its plans to sequence 100,000 genomes. The 100,000 Genome Project is expected to achieve that goal later this year. There is reason to be optimistic about it being of value, scientifically and clinically. There are also, however, reasons to be concerned about both the Genome Project and other areas of the developing fields of genomic medicine. In the following we outline some of those reasons.
- 2.Responsible Governance of the Biosciences
The 100,000 Genome Project forms part of a recent (post-2010) trend in the UK’s biosciences policy. Example initiatives include the integration of personalised medicine in mainstream healthcare, regulatory approval for mitochondrial DNA transfer, and approval of genetic modification for research purposes in viable human embryos. These unprecedented steps have been taken as part of the government’s ambition to improve the delivery of healthcare – but are also motivated by economic policy, specifically the attempt to turn the UK into a global leader in research and development.
To this end the UK’s bioscience policy has recently been framed in terms of commercial value. It has also afforded special interests considerable influence, and provided insufficient opportunities for democratic decision-making and public consultation. For instance, in regard to “research opportunities and mainstream use of genomic medicine across the NHS”, NHS England affirmed that these offered a “major contribution to make to wealth creation and economic growth in this country” (2014). Furthermore, the body tasked with providing ethical guidelines in the 100,000 Genome Project, the Ethics Advisory Group, refer to the project’s “potential to bring real benefits to individual patients and their families, to the NHS more broadly, and to the UK economy” (Genomics England, 2013).
Such a model could result in the institutional lock-in of commercialisation in the biosciences, which could in turn shape future applications of these technologies. Moreover, decisions influenced by commercial and economic interest risk undermining the role of ethical expertise and public deliberation. An alternative to this approach, however, is to anchor bioscience and biotechnology policy in democratic values, in the manner advocated by the Nuffield Council on Bioethics (2012). We urge a re-evaluation of government policy along these lines.
The alternative paradigm stresses citizen participation. By opening up the development of policy, a plurality of perspectives and values can feed into it, and thus greater scope for reflection on the desirability of broader social impacts. More than anything else, it is the centrality accorded to the public – engagement with which would feed concretely into the development of policy – that distinguishes this way of thinking about scientific and technological innovation. This approach is exemplified by the consensus formed at the 2015 International Gene Editing Summit: that the risks and benefits of genome editing would have to be considered, and broad societal approval forthcoming, before any particular policy is green-lit.
By contrast, in the prevailing paradigm public engagement exercises often serve to merely legitimise decisions that have already been taken, rather than keeping the public informed about possible policy trajectories. The Caldicott Review (2013) is a case in point: it could, through democratic consultation with all relevant stakeholders, have forged a consensus on what constitutes acceptable or unacceptable use of whole-sequenced genomes. Prior to the publication of Caldicott’s recommendations in March 2013, however, the government’s strategy for UK life sciences had already made it clear that there would be a shift to “a more progressive regulatory environment” (Department for Business, Innovation, and Skills, 2011). Caldicott was therefore always unlikely to be able to meet its aspirations of giving the public a stake in deciding whether or not information would be shared.
It is essential to cultivate greater foresight about the long-term implications of genomics. The Snowden revelations show unequivocally that governments have the capacity to, and do, intrude into people’s private lives. Ore generally, technological advance always has the potential to threaten the liberties we take for granted. Why, therefore, should sequencing genomes on a potentially national scale be somehow immune to this? Care.data is evidence that we cannot assume the Government will use sensitive personal information in our best interest. And nor can they the government be trusted to be up-front about who they share this kind of information with and why. A fully sequenced genome is a wealth of information. Sequencing genomic information on a national scale would appear to increase the capacity for surveillance and control.
- 3.The 100,000 Genome Project
The 100,000 Genome Project is an example of how making genomics part of an economic strategy risks unduly permissive policy and the neglect of best practice.
The government initially claimed that “genomic data files from the 100,000 Genome Project to which academics, researchers and industry members will have access will be anonymous”. This would have been in line with UNESCO’s International Declaration on Human Genetic Data (2003), which explicitly calls upon nation-states to “endeavour to involve society at large in the decision-making process concerning broad policies for the collection, processing, use and storage of human genetic data”.
Freedom of Information requests revealed, however, that the government’s claims were misleading. As we reported in The Guardian (Hockings and Coyne, 2015), it transpired that all data used in the Genome Project is in fact pseudonymised: as such, public understanding of the level of access that is afforded to private sector actors in the 100,000 Genome Project was distorted. Whereas anonymised data is stripped of anything that would permit the identification of the individual in question from the data, pseudonymised information – in the Department of Health’s own words – contains “age or age range” and “wider geographical information”. The information made available to third parties also includes clinical data pertaining to an individual’s medical history, potentially spanning decades.
If the public are misinformed about the level of data access we cannot know whether there is broad public approval for existing policy: whilst the public may approve of genomics to improve medical care, the same may not be said about allowing data to be used for specifically commercial ends. Openness about the way wholly-sequenced genomic data is used, and potential uses that might be under consideration, allow the public an opportunity to decide whether they approve or not.
Article 4 of UNESCO’s IDHGD maintains that since genetic data can be predictive of genetic predispositions, extending even over generations, it has a “special status” as data. By contrast, Caldicott stated that “genetic information should not be treated any differently from other forms of information, and genetic information in itself is not always identifiable”. In line with this, the 100,000 Genome Project’s Ethics Advisory Group recommended that no restrictions be placed on the “research undertaken on the data, for example by limiting it to ‘non-commercial research’” (Parker, 2013).
This raises the question of what checks and balances the 100,000 Genome Project possesses on the uses of genetic data by third parties. Put to the Department of Health in a Freedom of Information request, we were told in response that “it is impossible to inform patients at the outset of the potential ways in which their genome might be used”. Furthermore, at “the time of consent participants cannot know every potential exact use of their data.” The reason was characteristically to do with competition: “aiming to stay at the forefront of genomic research it is impossible to inform patients at the outset of the potential ways in which their genome might be used”.
These concerns take on even great significance in light of a possible expansion of the Genome Project, potentially on a national scale. Following Freedom of Information Requests, the Department of Health confirmed that a “decision will be made by the Secretary of State for Health following discussions with a range of interested parties.” We revealed in The Guardian (Hockings and Coyne, 2016) that these parties included Google, but the exact nature of the meetings were withheld to protect Google’s commercial interests. Our concern is that, as above, equal weight may not be given to a full range of interests, public and private. The Government’s recent disposition toward public engagement suggests that it could be overlooked in favour of commercialisation of genomic data.
- 4.Genome Editing
A related concern is the government’s radically permissive approach to genome editing. Two major developments in particular have occurred in the UK in recent years: in 2015 parliament approved mitochondrial DNA transfer, followed in 2016 by the Human Fertilisation and Embryology Authority’s granting of approval for the genetic modification of viable human embryos. Our concern is that, once again, such decisions are being made with insufficient regard to the ethical and social consequences.
Take mitochondrial DNA transfer. Its proponents advocate it on the grounds that the possibility of inheriting conditions through mitochondrial DNA (approximately 0.1% of the total cell DNA) is diminished. A laudable aim, no doubt – but one which, as the Center for Genetics and Society notes, threatens a “long-respected international policy consensus” against human germ-line modification (Cussins, 2014). The Department of Health defended itself by claiming it does not believe the technique amounts to genetic modification, but this is a disingenuous response since the manipulation of a portion of DNA, however small, is precisely the goal.
This opens the door to wider application of genome editing, particularly since the development of high-precision tool CRISPR-Cas9. As stated, approval for its research use on viable embryos has been granted. Such radical moves have been undertaken despite controversy. In an attempt to build consensus for the regulation of these techniques, pioneers in the field of genetic engineering called for a moratorium on human germ-line editing (Lanphier, et al., 2015). The scientists argued that genetic interventions on eggs, sperm, or early embryos posed substantial risks to future generations. It was noted that even just accepting the therapeutic use of genetic engineering to fix ‘faulty’ genes could pave the way for non-therapeutic genetic enhancement and designer babies.
One key concern is that such a development could exacerbate existing inequalities, turning economic and social disparities into biological ones. Handing even great advantages to certain groups, leaving the under privileged behind. As Francis Fukuyama has argued, this threatens the very foundations of liberal democracy which rests on a conception of the fundamental equality of human beings (2002). Proponents of genome editing would respond that medical use alone – perhaps provided universally through the NHS – would prevent this possibility. However, there are grounds for concern about the nature of the practice itself, regardless of consequences. The ethicists Hans Jonas (2010) and Jürgen Habermas (2003) have argued that genetic engineering corrupts the relation between the generations, becoming one of manipulator and manipulated, and threatens the freedom of future people as our decisions are genetically passed on. We believe that such a radical change in the human condition must not take place without prior deliberation, and until then further regulatory approval ought to be automatically withheld.
Finally there is the application of genome editing to non-human life, which the Nuffield Council on Bioethics has recommended be subject to further scrutiny (2016). While the above objections do not apply, there remains the concern raised by Michael Sandel that such genetic modification expresses an unhealthy drive to master life. This partly explains, we would argue, the normative significance which members of the public often attach to nature and ‘naturalness’ (Nuffield, 2015).
Whatever view we have of gene editing and genomics, it remains unchartered territory. Adopting a permissive, commercial model, will make it harder to manage the social impact. Indeed, this is an unavoidable consequence of giving science, medicine, and the economy precedence. We urge the Government to adopt a much more balanced approach.
The Government’s approach to bioscience policy has been consistent: it is comfortable with commercialisation, has neglected to afford sufficient weight to public interest, and resists transparency. Policy and governance in the biosciences in the UK should instead be aligned with relevant international guidance and legislation. The establishment of a quasi-independent body with proper regulatory powers could provide much needed oversight, and ensure that uses of genomic data do not override public opinion or long-held ethical standards.
In view of the prospective expansion of the 100,000 Genome Project, and the likelihood that gene editing techniques become more advanced, public consultation and participation must be institutionalised so that public opinion regarding acceptable uses of genomic data and the wider trajectory of bioscience policy can be solicited. Embedding public consultation and participation will push the government toward transparency and ensure better governance and policy-making.
- Government must better engage the public in a debate about the wider trajectory of UK bioscience policy, and be held to account regarding public opinion
- The adoption of an open model of consent must be supplemented with a guiding framework that clearly states who can have access to genomic data and for what purposes
- Genome editing is a hugely significant development for humankind, and further regulatory approval of the practice ought to be automatically withheld unless public approval, following from meaningful consultation and deliberation, is forthcoming
- Enforcing the above ought to be made the remit of either an existing regulatory body, or one newly established for that purpose
Caldicott, F. (2013) Information: To Share or Not to Share? The Information Governance Review.
Cussins, J. (2014) ‘Should we open the door to genetically modified babies?’ CNBC, 11th August. http://www.cnbc.com/2014/08/11/should-we-open-the-door-to-genetically-modified-babiescommentary.html.
Department for Business, Innovation, and Skills (2011) Strategy for UK Life Sciences.
Fukuyama, F. (2002) Our Posthuman Future. New York: Farrar, Straus, and Giroux.
Genomics England (2013) ‘Prof Mike Parker says no ethical issues are off the table as Gel considers its approach to patient consent’. https://www.genomicsengland.co.uk/prof-mike-parker-says-no-ethical-issues-are-off-the-table-as-gel-considers-its-approach-to-patient-consent.
Habermas, J. (2003) The Future of Human Nature. Cambridge: Polity Press.
Hockings, E. and Coyne, L. (2015) ‘Privacy and the 100,000 Genome Project’, The Guardian, 10th March.
Hockings, E., and Coyne, L. (2016) ‘The government seem more interested in our genes than our voices’, The Guardian, 15th March.
Jonas, H. (2010) ‘Biological Engineering – A Preview’, in Philosophical Essays. New York: Atropos Press.
Lanphier, E., et al. (2015) ‘Don’t edit the human germ line’, Nature, 12th March.
NHS England (2014) Genomics: NHS Preparedness for Delivery of the 100,000 Genome Project. https://www.england.nhs.uk/wp-content/uploads/2014/06/item9-board-0714.pdf.
Nuffield Council on Bioethics (2012) The Collection, Linking and Use of Data in Biomedical Research and Health Care: Ethical Issues.
Nuffield Council on Bioethics (2015) Ideas About Naturalness in Public and Political Debates About Science, Technology and Medicine.
Nuffield Council on Bioethics (2016) Genome Editing: An Ethical Review.
Parker, M. [On behalf of the Ethics Advisory Group] (2013), 22nd March. Available at: https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/210830/ethics_advice_letter_to_CMO.pdf.
Sandel, M. J. (2007) The Case Against Perfection. Cambridge, MA: Harvard University Press.
UNESCO (2003) International Declaration on Human Genetic Data.