Fostering public engagement in the ethical and social implications of genetic technologies

Privacy Concerns in the Development of Personalised Medicine and the 100,000 Genome Project

With the UK launch of 23andMe’s home DNA testing kit, the legalisation of mitochondrial DNA transfer, and the 100,000 Genome Project underway, optimism abounds about the science of genetics delivering on its early promise. But there is also cause for greater caution and oversight than some biotechnology enthusiasts would like to admit.

These developments are taking place with insufficient regard for their social and ethical implications. We can, however, be sure that the policies and regulatory frameworks currently being enacted will shape future decisions. A balance needs to be struck between the pro-R&D agenda that is driving a permissive regulatory regime, and sensitivity towards concerns about genetic technologies - that public consultation, if properly conducted, can alert us to. It is in the public interest that there is wider discussion of the full implications of recent developments.

The 100,000 Genome Project is a case in point. The collection and sequencing of 100,000 individuals’ genetic information is intended to constitute the first phase of what will be a national genomic database. The ‘50 million Genome Project’ will include the genomes and clinical data of all NHS patients in England and Wales. We submitted a Freedom of Information request to the Department of Health (DoH) to clarify the way in which data from those participating in the 100,000 Genome Project would be shared with third parties. In line with prior public announcements, and what Genomics England claim on their website, the DoH initially told us that both clinical information and “genomic data files from the 100,000 Genome project to which academics, researchers and industry members will have access will be anonymous”.

However, following further correspondence the DoH admitted that data made available to third parties, including commercial entities, would not, in fact, be anonymised but rather “pseudonymised”. This has profound implications. Anonymised data is stripped of anything that would permit the identification of the individual in question from the data. Pseudonymised information is quite different, as it provides information on – in the DoH’s own words – “age or age range” and “wider geographical information”. The information made available to third parties includes clinical data pertaining to an individual’s medical history, potentially spanning decades. With such information as age/age range and geographical location – combined with the wealth of ‘big data’ held on databases and available online – it may then be possible to identify those participating in the 100,000 Genome Project.

The DoH’s justification for this sleight of hand defies belief. It is stated that in “public access documents the term ‘anonymisation’ has been used because the term ‘pseudonymisation’ is not widely understood. It is planned that a footnote clarifying the terminology will be added to communication material”. Needless to say this is wholly inadequate: ‘anonymisation’ and ‘pseudonymisation’ are not synonyms, and to pretend otherwise – with only a ‘planned’ footnote to explain as much – directly contradicts the principle of transparency.

Since the DoH admits that “public access documents” state that all data will be anonymised when the format is in fact pseudonymisation, the question arises as to whether those participating in the 100,000 Genome Project have in fact given informed consent for their data to be used in this way. We asked the DoH to specify whether the model of consent employed meant that participants would be made aware of the possible uses of their clinical or genomic data. The DoH admitted 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 following explanation for what appears to be deliberate obfuscation was provided: “longitudinal project 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.” 

‘Genomic research’ is extraordinarily vague and provides little in the way of guidance regarding what kind of things whole-sequenced genomes might be used for. It is little consolation the data can only be used in line with the Data Access and Acceptable Uses Policy; however, this policy has not yet been made available to the public.

Finally there is the question as to what extent clinicians will be party to such information. The DoH admitted to us that those involved in administering care “will be able to access their patient’s data, including the raw genome data which, through its nature, requires them to have access to identifiable data”. Once more, the lack of oversight is notable. Clinicians accessing such data will merely be “expected to work within their remit and to abide by the ethical code of conduct for their profession”. There is no reference to how this is to be enforced, if indeed at all.

These revelations raise the issue of trust. Clinicians and other interested parties will have access to sensitive information such as whether or not someone has a predisposition to particular illnesses. Looming over this, however, is the question of trust in the government to hold and use genetic information responsibly. This has to be viewed in the context of the impending expansion of the 100,000 Genome Project into a national genomic database and the integration of personalised medicine in mainstream healthcare, from 2017. It is thus imperative that there is widespread public debate about the acceptable uses of whole-sequenced genomes, and that all developments in this area should be subject to rigorous oversight. 

Thus far the 100,000 Genome Project has failed to live up to the required standards of transparency. This is by no means an isolated phenomenon in the UK’s approach to the governance of personal, and often highly sensitive, data. The disparity between democratic accountability – often taking the form of superficial public engagement exercises – and the powerful lobbying mechanisms at the disposal of vested interests needs to be redressed. Only through greatly increased openness from the government can we foster meaningful debate about the risks and implications of this new frontier in medicine.

For more detail and the Freedom of Information responses, please refer to the following EthicsandGenetics research note (2015). 

The Guardian version of this article can be found here.

Edward Hockings and Lewis Coyne 

Last modified onFriday, 20 January 2017 08:09
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