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

Privacy, the database state and the genomic era

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In anticipation of a supposed shift in healthcare based upon genetics, New Labour, under the direction of the UK pharmaceutical sector, set about implementing a considerable legislative programme in order to gain a competitive edge in the global market for personalised medicine. This new model of healthcare requires access to massive data sets, and thus, the NHS National IT Programme, which included, ‘Connecting for Health’ – a national, set of interconnected databases, containing electronic medical records – was set up. Moreover, the Secondary Uses Service, a mechanism by which personal medical information can be shared and accessed, and makes patient-identifiable data available without individual consent, was also introduced. Lastly, Section 251 of the 2006 NHS Act circumvents the common law of confidentiality, Article 8 of the Human Rights Act 1998, as well as the Data Protection Act 1998 – and permits access to personal medical information without the need for consent. In short, these are the ideal legal and infrastructural conditions for the advancement of personalised medicine. The only thing that is missing is a national genomic database; the last piece in this grand design.

In a recently published report for the Government, the Human Genomics Strategy Group called for the development of a national central genomic data storage facility. This would mean that genetic data collected from the population will be linked to electronic medical records. The report recognises that “an individual’s genetic information is sensitive personal data, and a whole genome cannot be truly anonymised.” Adding that, “there is a risk of the information being misused.” Despite this, the report advocates a generic form of consent: which means that although consent to use tissue or personal data must be secured in the first instance, it will be used in future research studies, the nature and purposes of which will be unknown.

Should we sanction a practice where genetic information, linked to our medical records, moves between the public and private sphere - and is used for purposes beyond our knowledge? Genetic discrimination is increasingly prevalent in America; people are losing their jobs due to a mere predisposition to cancer. An examination of current practice suggests that, notwithstanding substantial changes, especially to Government transparency, and indeed, the need for far greater levels of public engagement in these matters - a national genomic database is a step too far. Let me explain.

The public were not properly informed about the purpose and rationale of ‘Connecting for Health.’ Indeed, the public are not made aware of what happens to their personal medical information when it is stored on ‘Connecting for Health.’ The fact is, the conditions for proper and meaningful public debate are simply not there. The principle that underpins both treatment and clinical research studies is that informed consent must be secured. Confidentiality, privacy and personal autonomy provide the minimum level of safeguards for personal medical information. When we turn to current practice, the situation is alarming.

Connecting for Health, which is part of the Department of Health, states on its website that the Secondary Uses Service only provides access to “anonymous patient-based data” for purposes other than direct clinical care, such as healthcare planning, commissioning services, public health, medical research and national policy development. In a Freedom of Information disclosure to EthicsandGenetics, the Department of Health stated that the data accessed under the Secondary Uses Service was “not always accessed in an anonymised format.” Access to pseudonymised information is, however, limited to those circumstances where legal permission has been granted by the secretary of state for health under the 2002 NHS control of patient information regulations and the 2006 NHS Act. This was part of the EthicsandGenetics inaugural report which was featured by the Guardian in December.

A further Freedom of Information disclosure to the Department of Health regarding whether there were cases where patient-identifiable information was made available, resulted, despite the fact that the department and their subsidiary bodies maintain that data is always anonymised, in the following statement:

“There are occasions when patient-identifiable data from Secondary Uses Services (SUS) is provided but this is limited to situations where legal permission has been granted by the Secretary of State for Health under the 2002 NHS Control of Patient Information regulations and Section 251 of the NHS Act 2006 following advice provided by the independent Ethics and Confidentiality Committee of the statutory National Information Governance Board.”

A further Freedom of Information disclosure by the Department of Health to EthicsandGenetics regarding the amount of times Section 251 of the NHS Act 2006 has been used over the last three years revealed that it was granted 42 times in 2008-09, 36 in 2009-10 and 54 times in 2010-11. Personal medical information is shared without our consent or knowledge on a weekly basis under Section 251 alone. This, and other practices, is unique to the UK. In fact, weak UK data protection laws are considered a ‘unique selling point’ by the pharmaceutical community.

When we turn to the Conservatives proposals to open up medical data to private organisations and, Andrew Lansley’s pledge that personal data will be made available in a strictly anonymised fashion, we find a very familiar narrative. A Freedom of Information disclosure by the Department of Health to EthicsandGenetics reveals that the public were misled about the Conservatives plans to open up personal medical data to third-parties. Both Andrew Lansley MP and David Cameron PM explicitly stated that any data shared under these proposals would be ‘anonymised.’

"Now let me be clear, this does not threaten privacy, it doesn’t mean anyone can look at your health records but it does mean using anonymous data to make new medical breakthroughs and that is something that we should want to see happen right here in our country."

David Cameron at the FT Global Pharmaceutical and Biotechnology Conference

In reference to the proposals Andrew Lansley, the Secretary of State for Health, explicitly stated that “it is not about sharing individual records in a way that can identify who those people are.”

However - in a Freedom of Information disclosure to EthicsandGenetics, the Department of Health stated that:

“Any release of data must be lawful and with appropriate permissions data could be released in anonymised, pseudonymised or identifiable form.”

These are the three different ways of classifying personal medical data:

Anonymised data: it is impossible to connect it with an identifiable individual

Pseudonymised data: is stored separately from identifiable information, but the link is still maintained and so the data can be attributed to an identifiable individual by anyone who has access to the linking codes. Moreover, pseudonymised data is such that in most cases the individual’s name and address are merely replaced by their data of birth and postcode. Identifying a person, if you so desire, is not difficult.

Patient-identifiable data: contains key identifiable information includes: patient’s name, address, full post code, date of birth; pictures, photographs, videos, audio-tapes or other images of patients; NHS number and local patient identifiable codes; Anything else that may be used to identify a patient directly.

While the Freedom of Information disclosure by the Department of Health goes on to say that “private companies operating on a commercial, for-profit basis will only ever receive fully anonymised data” - it is clear that the public were misinformed about the nature of these proposals and the type of information that would be shared with third-parties. It is also clear that the Government do not have a consistent position.

The Department of Health, in their initial response to a Freedom of Information request by EthicsandGenetics about what kind of information would be shared under these proposals, stated that all data would be strictly anonymised. It was only when pushed on the matter and asked to specifically define anonymised data; and confirm whether any data shared under these proposals would, in fact, be pseudonymised and patient-identifiable - that the Department of Health changed their position and confirmed that data would not always be anonymised.  

As we have seen, ‘lawfulness’ – within the context of UK data protection law and practice – fails to provide us with the necessary safeguards. Moreover, the ‘appropriate permission’ undoubtedly refers to the powers given to the secretary of state of under section 251 of the 2006 NHS Act; which means that data could be shared without individual consent. Lastly, while Andrew Lansley pledged that the data would be ‘strictly anonymised’, the Department of Heath makes it clear that it could be ‘pseudonymised’ or made available in a ‘patient-identifiable’ form. These are categorically different propositions and is indicative of a staggering lack of coherence in their overall position.

Given these inconsistencies and lack of meaningful legal protection - a national genomic database - let alone opening up more data to private companies, is not something that we should take lightly. The coming together of genomics, genetics and society in entirely novel ways, brings with it risks that are difficult to quantify, and must be the object of open and public discussion. Without serious deliberation, we cannot relinquish control over our personal and genetic material for purposes that are beyond our knowledge; especially in circumstances where the public are being systematically misled.

While medicine and healthcare may be in the midst of previously unfathomable changes, what is needed is an ethical and legal framework that is responsive to - rather than determined by - scientific and technological developments. At this stage, the validity of personalised medicine is merely hypothetical; as such, it should not outweigh tried and trusted principles overnight. Unless the legal dimensions of this new science are given greater attention by the public, and indeed, government reviews and public consultations, as well as a comprehensive review of the legal status of personal medical information - the rather unseemly instances that have been enumerated will become a blueprint for the genomic era.


Edward Hockings 


The merits of 'Personalised genetic tests'

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Medicine and healthcare are in the midst of previously unfathomable changes. It is clear that we are moving towards an era of ‘proactive genomics.’ As the costs of sequencing a human genome fall, more and more private clinics and companies will offer ‘personalised medicine.’ From the standpoint of developing ever more sophisticated methods in healthcare, personalised medicine is an exciting prospect. Thus far, however, we are seeing unsubstantiated promises about a science that is still in its infancy.

Genomic sequencing enables physicians to identify an individual’s predisposition to disease and potentially predict how a given patient might respond to a particular drug. It may also go some way in eliminating unnecessary treatments and reduce the possibility of adverse reactions to drugs and thus increase the efficacy of treatments. The continual development of new, faster and cheaper DNA sequencing technologies such as ‘next generation DNA sequencing’ is making it easier for more companies to offer personalised medicine at attractive rates. According to PricewaterhouseCoopers, the $232 Billion, Personalized Medicine Market, is set to Grow 11 percent annually. It is estimated that the market for a more personalized approach to health and wellness will grow to as much as $452 billion by 2015.

There are a number of companies that offer personalised medicine and genome analysis. 23andMe, for example, sells mail order kits for SNP genotyping at £50 for the kit and a £5.00 per month subscription. Alternatively, it is a flat fee of or £200 without a subscription. The consumer mails the sample to 23andMe for analysis of genetic risk for 178 diseases and conditions, in addition to ancestry analysis. A more up-market service is provided by and charges £700 to carry out genotyping of approximately 1 million SNPs and provides risk estimates for 47 diseases as well as ancestry analyses. Lastly, Navigenics offer SNP genomic risk assessments, and charge a higher fee as they place a greater emphasis upon a clinician and genetic counsellor’s role in interpreting the results. 

However, the jury is still out on direct to consumer personalised genetic tests. A recent article published in the Journal of Genetic Counseling highlights their current failings:’

“A major limitation of DTC testing is the incomplete view it provides regarding lifetime risk for common, complex diseases, since most tests only analyze 1–2 single nucleotide polymorphisms (SNPs) and do not include evaluation of medical or family histories, which is necessary to risk assessment”

Moreover, “it is not currently well-established whether personal genomic testing results will lead toward improved health behaviors, adverse psychological effects or potential overuse of the health care system.”

A rather damning enquiry concerning ‘Direct-To-Consumer Genetic Testing and the Consequences to the Public Health’ was conducted by the Congress of the United States, Committee on Energy and Commerce. In the final report, it was argued that:

“The problem with these marketing practices is that it is not clear today whether the exciting scientific developments in human genetics research actually transfer into ways to improve and individualize medical care.” Furthermore, “the science informs us that there is no widely accepted consensus linking genetic markers to specific illnesses.” “While understanding human DNA may someday help us cure hundreds of serious illnesses, companies need to be careful that they are not overstating what they have to offer the public.”

The Committee, in its investigation, reviewed over 450,000 documents. They found:

“Questionable marketing claims, serious quality control and privacy concerns, and questions about the accuracy of information provided to consumers.”

The report recommended that the government must ensure that “the public is protected against exaggerated claims, abusive marketing, and practices that threaten individual health and safety.”

The US accountability Office also investigated companies selling direct-to-consumer genetic tests. The verdict was similarly sceptical. They concluded that “these companies made medically unproven disease predictions.” And found “10 egregious examples of deceptive marketing, including claims made by four companies that a consumer's DNA could be used to create a personalized supplement to cure diseases. Two of these companies further stated that their supplements could ‘repair damaged DNA’ or cure disease, even though experts confirmed there is no scientific basis for such claims.

When we turn to the websites of the main providers of DTC genetic tests, it is clear that some of the claims that are made are insubstantial at best. 23andMe states: “Let your DNA help you plan for your future,” “Take charge of your health” and “Live well at any age.” On its website, Pathway Genomics states that “knowing how your genes may affect your response to certain drugs may improve the quality of your life.” Moreover, DeCODE Me states that ‘Your genes are a road map to better health’ – and lastly, "calculate genetic risk - Empower prevention."

Perhaps it is worth waiting for ‘personalised genetic tests’ to evolve before giving them serious consideration. Indeed, out of curiosity, one might choose to take a DTC genetic test - but not in the hope that it will “help you plan for the important things in life.”


Edward Hockings

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