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

Government seems more interested in our genes than our voices

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This is a pivotal time for the future of human genetic technologies. New gene editing techniques such as CRISPR/Cas9 suggest that any limits to the uses of genetic engineering will not be due to the technology itself, but to political decisions. Given that the application of such technologies is a matter of choice, public debate about the acceptability of these practices has to rise to the occasion.


Last year, 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. 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.


Unfortunately, ethical and social concerns have not held much sway over recent biosciences policy in the UK. Despite a lack of consensus about its acceptability, the UK Human Fertilisation and Embryology Authority recently approved the use of CRISPR/Cas9 to genetically modify genes in healthy human embryos. This came shortly after regulatory approval for mitochondrial DNA transfer, the ‘three parent’ IVF technique, despite it being subject to much controversy.


A similar lack of public deliberation has characterised the revolutionary 100,000 Genome Project, due to complete in 2017. The collection and sequencing of the genetic information of 100,000 individuals has been trumpeted as a success, leading to several diagnoses. It remains to be seen what further developments this will spawn. In response to a Freedom of Information request by EthicsandGenetics, the Department of Health (DoH) confirmed that a “decision will be made by the Secretary of State for Health following discussions with a range of interested parties.”


So who are these parties, and how much weight will be accorded to them in deciding the nature of the initiative? So far, we know that the infrastructure is currently being laid out with private sector involvement for what looks to be an expansion of the Project, potentially on a national scale: a ‘50 million Genome Project’.


The possible expansion of the Project in partnership with the private sector in turn raises a number of questions. Who will be responsible for storing and sequencing the data? What level of access will third parties be granted? Last, but not least, what will the genomic blueprints of an entire nation be used for? Freedom of Information disclosures to EthicsandGenetics confirm that the DoH has held meetings with the personalised medicine company 23andMe, in which the 100,000 Genome Project was discussed. 23andMe “expressed an interest.” Meetings were also held with Google, which has an “interest in the data that Genomics England is collecting.” Unfortunately, the DoH refused to provide any further information on the grounds that this could compromise Google’s commercial interests.


However, a hint as to the nature of this involvement might lie in an exposé published by the Daily Mail. The Mail acquired a recording of George Freeman, Minister for Life Sciences, telling guests at a meeting of the Institute of Directors that private companies could have a role in storing genomic and other health data. Freeman said that the “presumption at the heart of this [data] debate at the moment is ‘well, only by the government doing it’. I’m not so sure about that.”


He continued: “in banking and finance we all merrily, all day long, use our swipe cards, share our most precious information in a system that we trust, and it basically works. And if there is ever an error or a fraud everyone knows that you will be reimbursed, you can trust the system.” Rather than genomic data being governed by “civil servants in Whitehall”, Freeman recommended “that we embrace the best people at using data.”


It is conceivable that Freeman’s remarks refer to the meetings conducted with Google and 23andMe. If companies like these are to play a part in a future expansion of the Genome Project, it has to be done with public knowledge and consent regarding their commercial interest in genomic data and degree of access to it. Unfortunately the DoH has set a bad precedent for open and transparent dialogue.  It has already misled the public over the level of access granted to commercial entities in the development of the 100,000 Genome Project.


More broadly, the high level of private sector involvement and Freeman’s framing of genomic technologies in economic terms illustrate the thinking behind contemporary bioscience policy, whereby subtle concerns are often overlooked in the drive to marry the genetic and digital revolutions. Should it be developed, the significance of a national Genome Project reaches far beyond improving health, advancing science, and giving the UK economy a shot in the arm. There are social and ethical concerns too, which will only be given the attention they deserve if the public is made fully aware of the direction of travel and its implications.


The principles of transparency and consent have to be placed at the heart of the UK’s bioscience policy, not only for the governance of genomic data, but also because of the steps being taken towards editing the human germline. Government and policymakers responsible for the development of this new field in healthcare have to be clear about the risks and ethical issues. More importantly, there needs to be greater respect for public opinion. If public consent is not forthcoming, then full account needs to be taken of that decision. This indicates that we need to reassess our priorities. It may be that what is required are improvements to our institutions, rather than our genome.



Edward Hockings and Lewis Coyne 


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

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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). 

Edward Hockings and Lewis Coyne 


23andMe: Screening a Personalised Medicine Company for Ethical Problems

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With the information that our genomes hold we can make better decisions and be more proactive when it comes to our health. We can now personalise medicine.

23andMe, the Google-backed personal genetics company, are working towards exactly that. According to their co-founder, 23andMe promises nothing less than to revolutionize health care. They have certainly made an impression: since launching their Personal Genome Service in 2008 (initially costing £636, now £125), 23andMe has received Time magazine’s Invention of the Year award and amassed 650,000 genotypes from customers – the largest single collection of DNA in existence.

But their revolution has not gone entirely as planned. With controversy following controversy, last November 23andMe were forced to stop selling their genetic testing products in the US. Consequently they have explored the possibility of marketing their products in more congenial legal settings, and to that end 23andMe last week launched its home DNA Collection Kit in the UK.

More than anywhere else in the world, the flag for personalised medicine is being flown at full mast in the UK. And so, in keeping with this trend 23andMe’s DNA Collection Kit was reviewed and approved by a UK Research Ethics Committee, despite the ban in its native country.

So what is it? Customers send a saliva sample to 23andMe’s lab in the Netherlands, where, rather than sequencing an entire genome (which is between ten and thirty million genetic variants), they compare common differences in known genes. Using a gene chip from Illumina, they provide ancestry information and an individual risk assessment for illnesses including breast cancer, Parkinson’s disease and cystic fibrosis.

At face value this sounds harmless enough. However, questions have long been raised about the validity of the Personal Genome Service. In 2011, a group of Dutch and American academics voiced concerns about the scientific credibility of 23andMe’s methods. Just last week Dr Ewan Birney, associate director of the EMBL-European Bioinformatics Institute in Cambridge, similarly noted that what 23andMe offer is based on “very small shifts of risk, which are better served by simply living healthier and getting more exercise”.

Such assessments were reached independently of 23andMe’s long-running battle with the US Food and Drug Administration (FDA). As 23andMe specifically advertised their service as a first step in prevention” that enables users to “take steps toward mitigating serious diseases the FDA classified it as a medical product – one which failed to comply with the relevant regulations. This concluded in November 2013 with in a ‘warning letterissued by the FDA to 23andMe, stating: “We still do not have any assurance that the firm has analytically or clinically validated the Personal Genome Service for its intended uses”. The letter ended with an order to “immediately discontinue marketing the PGS [Personal Genome Service] until such time as it receives FDA marketing authorization”.

So, rather than overcoming the legal hurdles faced in the US – or indeed, making the science more robust – 23andMe decided to offer their Personal Genome Service elsewhere. And, as stated, the UK proved fertile ground, resulting in last week’s launch of the Personal Genome Service – now re-branded as the DNA Collection Kit.

With its own plans to integrate personalised medicine into mainstream healthcare, Britain has ambitions grand enough to match those harboured by 23andMe. NHS England has plans for a national genomic database, of which the data of 100,000 patients collected under the 100,000 Genome Project (due to complete in 2017) is just the pilot stage. And, just like the 100,000 Genome Project, 23andMe’s Personal Genome Service/DNA Collection Kit is part of a much bigger picture. The DNA Collection Kit is merely the initial phase in the collection of a massive amount of genetic data. According to Patrick Chung, a 23andMe board member and partner at the venture-capital firm NEA, “the long game here is not to make money selling kits, although the kits are essential to get the base level data. Once you have the data, 23andMe does actually become the Google of personalized health care”.

We already know that genetic data combined with relevant phenotypical information is a precious commodity, not least for Big Pharma. As things stand, 23andMe’s database of 650,000 genotypes is just the start: the desired figure, according to co-founder Anne Wojcicki is 25 million. Once “you get 25 million people, there’s just a huge power of what types of discoveries you can make. Big data is going to make us all healthier. What kind of diet should certain people be on? Are there things people are doing that make them really high-risk for cancer?”

Believe the spin, then, and there is no need to worry about the FDA’s ban on the Personal Genome Service. Just buy the (identical) DNA Collection Kit, provide 23andMe with the requisite capital – and most importantly, the genomic data – and better health awaits us all. Dig a little deeper, however, and a less attractive side to 23andMe emerges. In 2009, it filed, and was later awarded, a US patent application for “gamete donor selection based on genetic calculations” with the express purpose of identifying “phenotypes of interest in the hypothetical offspring” – a move criticised by Marcy Darnovsky of the Center for Genetics and Society as tantamount to “shopping for designer donors in an effort to produce designer babies”.

According to 23andMe the ‘Family Traits Inheritance Calculator’ “offers an engaging way for you and your partner to see what kind of traits your child might inherit from you”. When 23andMe filed the patent other potential uses cited for the ‘calculator’ were screening of sperm and ova to be used for in vitro fertilisation, and the selection of traits like eye colour, risk of disease, projected height, and gender. Perhaps unsurprisingly, 23andMe have since distanced themselves from the eugenic implications of the patent, claiming that “much has evolved in that time, including 23andMe’s strategic focus. The company never pursued the concepts discussed in the patent beyond our Family Traits Inheritance Calculator, nor do we have any plans to do so”.

Then there are the privacy concerns (which went unmentioned in last week’s coverage of the DNA Collection Kit in the mainstream media). In a section of 23andMe’s privacy statement titled ‘Analyse and Provide You With Our Services’, the company reserves the right to use your personal information – including your genome – to inform you about products and services. It goes without saying that a colossal amount of money can be made from using genetic identity to target the individual concerned with health-scare-based advertising. Herein lies a serious problem with direct-to-consumer genetic tests: there is no neutral intermediary, no disinterested party between corporation and customer. The power lies overwhelmingly in the former’s hands.

Perhaps most worryingly of all are the consequences for medical insurance. In the UK insurance contracts are signed on the basis of “utmost good faith”, meaning the insured party has to disclose all relevant facts to the insurer. In a little over two years the ‘relevant facts’ could cover genetic data, as at present there is no UK legislation prohibiting discrimination on the grounds of genetic traits or dispositions – merely a moratorium between the Association of British Insurers and the Department of Health which expires in 2017. In the event that the moratorium fails to be renewed or extended, as of 2017 those who have taken a genetic test and been found to carry a genetic predisposition to breast cancer, for example, could be faced with disclosing such information when taking out an insurance plan.    

In light of such not insignificant concerns it might be asked how 23andMe were given the green light by the Research Ethics Committee UK to launch the DNA Collection Kit. If this is troubling enough when seen in isolation, it is particularly so when seen in the context of an emerging pattern of lax oversight and insufficient sensitivity to the ethical and social concerns of this new frontier in medicine.

Take the 100,000 Genome Project. In 2012 a Freedom of Information (FoI) Request submitted to the Department of Health by this very organisation found that data on the proposed national genomic database could be made available to the private sector without patient consent (coverage by The Guardian here) along with some patient-identifiable information. After several further FoI Requests, and despite public assurances from the Prime Minister himself that all patient data made available to the private sector would be anonymous, it emerged that such data currently moves from public to private sector without patient consent on an almost weekly basis. There is every reason to believe that genetic data will be subject to the same availability.

Then there is the impending legislation concerning the misleadingly-named mitochondrial DNA transfer: a process whereby the nucleus of a woman’s egg is transferred into the surrounding mitochondria of another’s, such that the possibility of inheriting conditions through mitochondria DNA (approximately 0.1% of the total cell DNA) is diminished. A laudable aim, no doubt. But one which, as Jessica Cussins of the Center for Genetics and Society notes, threatens a “long-respected international policy consensus” against human germ-line modification. Absurdly, the Department of Health defended itself by claiming it does not believe the technique amounts to genetic modification – a disingenuous response, since the manipulation of a portion of DNA, however small, is precisely the goal. Concerns about safety aside, a technique which allows for three genetic parents will shortly be made available with scant regard for the ethical implications.

There is a common thread in the now certain legalisation of genetic engineering, the 100,000 Genome Project and relaxation of the model of consent that governs uses of the genetic data held therein, and, finally, the arrival of 23andMe on these shores. In stark contrast to international, regional and domestic normative guidance and legal instruments - in the UK, there is not only a failure to treat genomics, the biosciences, and personalised medicine with caution, in fact, these spheres are now seen as part of economic policy. Why is it that this paradigm is seen as appropriate, yet, The Council of Europe’s Convention on Human Rights and Biomedicine (1997) is not alone in urging that the human genome should not be treated as something from which we should gain financially? In any case, what is certain is that decisions that are taken now will shape future policy and regulatory decisions. Indeed, the framing of genetics in terms of their value to the economy smacks of short-termism, and is symptomatic of a wider problem of which global warming is the most poignant example. 


Read more..., Genomics, and the Launch of 'Accredited Safe Havens'

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The decision to roll-out and the proposal to launch 'Accredited safe Havens' across the UK, gives compelling reasons to support the EU's strengthening of the data protection regime. 

Following the announcement that will be rolled-out across England, a further, even more significant development is the proposal to launch ‘accredited safe havens’ (Ash). As a defining moment in the governance of personal information, ‘accredited safe havens’ will render obsolete the need to seek approval from the Secretary of State for Health and, in the case of medical research, by a research ethics committee or the Health Research Authority. This will make personal identifiable information easily accessible without a person’s consent and for purposes ‘other than direct care’. 

Circumventing the legal instruments that have been germane to information governance hitherto, such as the Human Rights Act (1998) and the Common Law Duty of Confidentiality, ‘Safe Havens’ make an already permissive information governance regime even more congenial to Government and private sector interests. An example of an ‘Ash’ is the Health and Social Care Information Centre (HSCIC), through which will be shared. Although the Department of Health (DoH) has claimed that (Ash) is only intended to provide access to records that have been stripped of personal details, elsewhere the DoH affirm that ‘safe havens’ will provide access to information from personal care records which could be used to identify an individual.

This further weakening of privacy law is discordant with reforms to the EU data protection regime that are currently underway. In effect, the proposed EU regulation will replace the existing Data Protection Directive (1995), and will be directly applicable in member states without the need for implementing legislation. Following a European Parliament vote earlier this year, substantive amendments to EU privacy law are now irreversible. And, as for the direction of travel, it is clear that the rights of data subjects will be strengthened. Article 7 of the proposed regulation is of particular salience: it stipulates that for consent to be valid the data subject must give explicit consent. 

Clearly, there are deep tensions between the expected fortification of EU privacy law and the UK’s agenda, the main focus of which is economic growth. The latter, given the controversies surrounding, affirms the need for a renewed discussion about the kind of considerations that should hold sway in the domain of information governance. Indeed, the EU is approaching the matter in the right way by attempting to answer this question through democratic means. 

As the EU’s ‘hostile reforms’ require that any disclosure of identifiable information secures a person’s “specific, informed and explicit consent”, its impact would be felt on the well-documented sharing of personal, identifiable medical data. With Bupa, a private insurer, and, once established, the regional ‘accredited safe havens’, the Government has been doing its best to undermine these changes. However, EU data protection reform would also have substantial consequences for and the 100,000 Genome Project. Indeed, the Secretary of State for Health recently confirmed that will be linked with the 100,000 whole-sequenced genomes. This fits with the Government's apparent plans to make the UK into a world leader in the biosciences, and, ultimately, integrate personalised medicine into mainstream healthcare.

A Freedom of Information disclosure by the DoH to EthicsandGenetics reveals that, when the 100,000 Genome Project “concludes in 2017, there will be sufficiently robust genomics infrastructure in place to ensure that genomic medicine will be carried out routinely in the NHS.” So the spectre of personalised medicine looks to come sooner. And so too, will the commercialisation of whole-sequenced genomes, connected to, and their storage on ‘accredited safe havens’. Indeed, as Genomics England will own the 100,000 whole sequenced genomes, and when this data is stored in safe-havens, the public will have little control over the purposes for which such data are used.

The body tasked with providing ethical guidelines in the 100,000 Genome Project, the Ethics Advisory Group, stated that it has the “potential to bring real benefits to individual patients and their families, to the NHS more broadly, and to the UK economy.” Further, NHS England has claimed that the “research opportunities and mainstream use of genomic medicine across the NHS also has a major contribution to make to wealth creation and economic growth in this country.” It seems that, if even the Ethics Advisory Group has the economic benefits of commercialising genetic data as a central concern, we can expect a tug-of-war regarding what kind of considerations should have primacy in the governance of highly sensitive, personal information between the UK and the EU.

As we know, Government, ‘big pharma’ and the higher echelons of the private sector have deeply interwoven interests. And with Google looking to become a player in personalised medicine, and 23andMe, the Google-backed and much-maligned DNA analysis company intent on selling its products in new markets, maybe there is good reason to support, rather than undermine, the EU’s data protection reforms. 


Edward Hockings

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