Updated international guidance on human genome and human rights

Alison Hall

20 November 2015

A key UNESCO committee, the International Bioethics Committee (IBC), has recently updated its guidance on the human genome and human rights. The Report of the IBC on Updating Its Reflection on the Human Genome and Human Rights was published in October 2015, and is the result of deliberation by two working groups supplemented by wider consultation. It builds on considerable work done by the IBC in the past, taking into account the Universal Declaration on the Human Genome and Human Rights (1997), the International Declaration on Human Genetic Data (2003) and the Universal Declaration on Bioethics and Human Rights (2005). 

This ambitious report attempts to review the relevant ethical challenges and institutional and transnational frameworks for regulating genetic research and clinical care. It cites five areas of application and for each one, reviews the specific ethical challenges and makes practical recommendations. The areas chosen for review are:

  • Direct-to-consumer (DTC) tests and non-health care related analysis
  • Precision/personalised medicine
  • Biobanks
  • Non-invasive prenatal testing (NIPT)
  • Emerging techniques for engineering gametes and editing the human genome

In formulating their practical recommendations for States, governments, scientists and ‘all actors of civil society’ the IBC have addressed five ‘ethical principles and societal challenges’ which confusingly combine statements of principle, challenges and recommendations in one. Whilst the ethical / societal principles (respect for autonomy and privacy, justice and solidarity, the complexity of factors associated with understanding illness and health; cultural, social and economic aspects and responsibility towards future generations) seem self-evident – the justifications for the recommendations that emanate from those principles are less so.

The human genome as the heritage of humanity?

One central tenet that runs through the report is that the human genome underlies the fundamental unity of the human family and as such, ’the human genome is the heritage of humanity‘(para 115 and Article 1 of the UDHGHR). As such, it is argued, this creates a global responsibility which cannot be met simply by States and governments, which falls upon the international community as a whole. As a result, there multiple calls throughout the document for international actions or the creation of international infrastructures. Examples include a call for an international legally binding instrument to ban human cloning for reproductive purposes; a moratorium on genome engineering of the human germline; a willingness to co-operate on establishing shared, global standards relating to engineering the human genome and acceptance of a shared global standard; and the acceptance of non-controversial rules, procedures and solutions for modifying the human genome and producing and destroying human embryos. Given the plethora of national approaches, it is unclear how this international consensus can be achieved.

The significance of medical applications

Another recurring theme is to use the distinction between medical and non-medical applications to inform the ethical acceptability of the proposed action. Thus in relation to interventions on the human genome, 'only those done for preventative, diagnostic and therapeutic reasons‘ should be admitted and without enacting modifications to descendants. ’The alternative would be to jeopardize the inherent and therefore equal dignity of all human beings and renew eugenics disguised as the fulfilment of the wish for a better improved life‘. But of course our burgeoning knowledge about genetic variations and their interplay with other risk factors such as the environment or lifestyle suggests that this distinction is not straightforward and is often somewhat arbitrary, as is the definition of the interventions that are ‘preventative, diagnostic or therapeutic’. 

One example of this is the promotion of genetic tests that are only for health purposes. If this was imposed it would limit the development of functional genetic tests in basic science where the potential health benefits of testing might only become clear at a comparatively late stage. This suggests that the provision of additional scientific expertise might have helped the IBC to develop recommendations that are more scientifically robust.

Over-ambitious aims?

Another criticism of the Report might be that some of the recommendations seem unashamedly aspirational or symbolic. A good example is a recommendation applying to biobanks – ’It would be challenging to include all existing biobanks in an international registry with clear rules for access and sharing, in particular for cross-border and industrial access, because there are too many of them and have statuses that are too diverse. However this type of registry should be implemented‘. It adds as an afterthought – ’the rules governing data confidentiality and ethical review should also be harmonized‘ (para. 80). Given this approach, it would have been helpful if the IBC had suggested some of the practical ways in which these barriers could be overcome, given their advocacy of actions which seem implicitly unattainable.

However many aspects of the Report are welcome: examples include the fact that products and services should be developed in line with ethical principles and in compliance with agreed standards. Safeguarding the quality and safety of genetic and genomic technologies is an ethical issue. Similarly the move towards greater personalisation will be facilitated if there are sustained efforts to improve genetic literacy. 

Finding the right balance

Perhaps one of the most powerful themes to emerge from the Report is the difficulty of providing an effective balance between facilitating novel and potentially useful technologies and driving ever deeper inequities within and between countries. For example, on the topic of global inequities – it is argued that - ’Scientific progress should not deepen inequalities within and among countries nor be used for discriminating against individuals or groups’ (para. 122), and that ’Considering that scientific advancements in this field are likely to offer unprecedented tools against diseases, it is crucial to acknowledge that these opportunities should never become the privilege of few‘ (para.128).

One solution might be to ensure that access to genetic and genomic technologies is offered fairly in ways that are transparent and accountable. In an era of ever tightening resources in higher income countries as well as low and middle-income countries, these obligations seem to be increasingly important and deserve more attention both in ethical guidance and elsewhere.