Background - GeneWatch
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Medical profiling and online medicine:
the ethics of ‘personalised’ healthcare in a consumer age
CONSULTATION PAPER
Responding to the consultation
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Tom Finnegan
Nuffield Council on Bioethics
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London WC1B 3JS
UK
Fax: +44 (0)20 7637 1712
Telephone +44 (0)20 7681 9619
Email: consultation@
For information about obtaining a large print version of the consultation paper please contact the Council using the above details.
Thank you.
Closing date for responses: 21st July 2009
Web references throughout the consultation were accessed April 2009.
Medical profiling and online medicine:
the ethics of ‘personalised’ healthcare in a consumer age
Respondent’s form
Please complete and return with your response by 21st July 2009.
Your details
Name: ______________Helen Wallace________________________
Organisation: (if applicable) _______GeneWatch UK______________
Address: __60 Lightwood Rd, Buxton, SK17 7BB_________________
Email: _____helen.wallace@_____________
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Why are you interested in this consultation? (tick as many as apply)
( You or family/friend has had a DNA test
( You or family/friend has had a body scan
( You or family/friend has purchased a health product or service over the internet
( You or family/friend has used a telemedicine service of some kind
( Work in healthcare (e.g. nurse, doctor, NHS manager, health technician, health IT specialist)
( Work in/represent a provider of DNA tests, body scans, online health products/services or telemedicine
x Work in/represent a charity or NGO
( Work in/represent a professional body or government
( Legal/regulatory interest
( Academic/research interest
( Educational/teaching interest
( General interest/other
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x Received consultation paper in the post
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( Other website (please state):_______________________________________
( Other (please state):_______________________________________________
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Closing date for responses: 21st July 2009
Nuffield Council on Bioethics
Professor Albert Weale FBA (Chair)
Professor Steve Brown FMedSci
Professor Roger Brownsword
Dr Amanda Burls
Professor Robin Gill
Professor Sian Harding FAHA FESC
Professor Peter Harper
Professor Ray Hill FMedSci
Professor Søren Holm
Professor Christopher Hood FBA*
Professor Tony Hope**
Dr Rhona Knight FRCGP
Professor Graeme Laurie FRSE
Dr Tim Lewens
Professor Ottoline Leyser CBE FRS
Professor Anneke Lucassen
Professor Alison Murdoch FRCOG
Dr Bronwyn Parry
Professor Nikolas Rose
Professor Jonathan Wolff
*Co-opted member of the Council while chairing the Working Party on medical profiling and online medicine
*Co-opted member of the Council while chairing the Working Party on dementia
Secretariat
Hugh Whittall Catherine Joynson
Katharine Wright Sarah Bougourd
Harald Schmidt Tom Finnegan
Carol Perkins Kate Harvey
Audrey Kelly-Gardner Varsha Jagadesham
The Terms of Reference of the Council are:
1. to identify and define ethical questions raised by recent advances in biological and medical research in order to respond to, and to anticipate, public concern;
2. to make arrangements for examining and reporting on such questions with a view to promoting public understanding and discussion; this may lead, where needed, to the formulation of new guidelines by the appropriate regulatory or other body;
3. in the light of the outcome of its work, to publish reports; and to make representations, as the Council may judge appropriate.
Working Party members
Professor Christopher Hood FBA (Chair)
Gladstone Professor of Government and Fellow, All Souls College, University of Oxford and Director, ESRC Public Services Research Programme
Professor Kay-Tee Khaw CBE FRCP
Professor of Clinical Gerontology, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital
Dr Kathy Liddell
Lecturer, Faculty of Law, University of Cambridge
Professor Susan Mendus FBA
Professor of Political Philosophy, University of York
Professor Nikolas Rose
Martin White Professor of Sociology, BIOS Centre for the Study of Bioscience, London School of Economics and Political Science
Professor Peter C Smith
Professor of Health Economics, Centre for Health Economics, University of York
Professor Sir John Sulston FRS
Chair, Institute of Science, Ethics and Innovation, University of Manchester
Professor Jonathan Wolff
Head of the Department of Philosophy, University College London
Professor Richard Wootton
Director, the Scottish Centre for Telehealth
Working Party Terms of Reference
1. To identify and consider the ethical, legal, social and economic issues that arise in the application of new health and medical technologies that aim to deliver highly individualised diagnostic and other services.
2. To describe and analyse, by means of case studies, developments in medical research and practice and other factors giving rise to the development of personalised healthcare.
3. To consider, in particular:
a. arguments about the scientific significance, reliability and predictive value of particular personalised services;
b. implications for equity in health in relation to who will benefit most from particular personalised services, and for whom they may be harmful;
c. the impact of personalised services offered by private providers;
d. the tensions that might arise between increasing expectations for highly tailored care with the need to provide healthcare for all in the NHS;
e. the extent to which personalised services can be offered as part of a fair and efficient operation of private and public healthcare systems;
f. confidentiality and privacy issues in relation to the control, transmission, and storage of personal health data;
g. any impacts on the doctor-patient relationship;
h. whether current regulation is appropriate.
Contents
Background 1
Introduction 3
Electronic health records 5
Online health information 6
Online drug purchases 7
Telemedicine 8
Body imaging 10
DNA profiling 10
Body imaging and DNA profiling services: cross-cutting issues 12
Other issues 14
Annex 1: UK internet usage statistics 15
Annex 2: Electronic health records – examples of service providers 17
Annex 3: Body imaging – how it works 18
Annex 4: Body imaging – example service providers 19
Annex 5: DNA profiling – example service providers 20
Annex 6: Information provided by private DNA profiling services 21
Annex 7: Regulation of DNA profiling and body imaging services 22
Background
The Nuffield Council on Bioethics examines ethical issues raised by new developments in biological and medical research. It is an independent body, funded jointly by the Nuffield Foundation, the Medical Research Council and the Wellcome Trust. It works by considering topics in depth, publishing reports on its findings and making recommendations to policy makers.
The Council has established a Working Party to examine Medical profiling and online medicine: the ethics of ‘personalised’ health care in a consumer age. Recent technological developments, new political and economic priorities, and the widespread drive towards patient-centred care have led to increasingly personalised health care services, with a strong focus on prediction and prevention. In many ways, these trends change the relationships between individuals and health care professionals. For example, technologies such as body scans promise people information about their specific risk-profiles for particular diseases, but often services are accessed without referral from their GP. This is also the case in direct-to-consumer DNA profiling. Many of these services, which also include online health records or health information services, are offered by private providers, and people increasingly regard themselves as ‘consumers’ of medical and health care services. This is either because they purchase them (directly or indirectly via private medical insurance) or because they consider themselves to have an individual ‘right to health’ which imposes an obligation on doctors and other medical professionals. The increasing use of these technologies, in this context, raises a number of ethical issues that the Working Party aims to explore.
The Working Party wants to hear from anyone who is using, or contemplating using, medical profiling or online health care services, and from those involved in providing them in the public and private sectors of health care. The Working Party also wants to hear the views of researchers, academics, regulators, and policy makers, and it will pay careful attention to all responses received by 21st July 2009.
This consultation document aims to provide background information on some of the issues the Working Party is currently thinking about. Please feel free to respond to as many or as few questions as you wish. In answering the questions, it would be very helpful if you could give specific examples wherever possible. In some cases we ask for your experiences of using particular services. Please feel free to adapt these questions if you are a provider rather than a user of such services, or if you are responding on behalf of an organisation.
Please note that the Council has already published a report on pharmacogenetics.[1] We will not address again here issues in the area of pharmacogenetics.
Introduction
Medical care is broadly distinguished from public health by the fact that it is aimed at the specific needs of each particular individual. The relationship between the individual and health care professionals is shaped by various factors, including technology, public policy and social culture more generally. These factors can influence the extent to which individuals are expected to be responsible for keeping themselves healthy; the ways that individuals can get access to medical diagnosis and treatment; and the extent to which individuals are invited or expected to participate in assessing their care needs and choosing treatment options.
Recently in the UK, patients have been increasingly expected to participate in decisions and take responsibility for their health, and people can now access many diagnostic and treatment services directly rather than through their general practitioner. More medical services, such as predictive DNA profiling and body imaging, are now provided outside of the public health care sector by private providers. At the same time, the internet provides new ways for individuals to find information directly about health and health care, to purchase drugs and health care services, and even to store their health records so that they or others can access those details wherever they are. All this is occurring in a cultural context where individuals are increasingly coming to think of themselves as consumers of health care services, public as well as private, with an emphasis on their individual rights and expectations. There is a wider questioning of the paternalism and discretion which many argue were the hallmarks of the health care system across the second half of the twentieth century, in which health care professionals were key interpreters of health information and also gate-keepers of medical resources.
Such developments raise numerous issues, for example, about the scope and limits of self-diagnosis and treatment; about information that may be erroneous or hard to interpret; about who should pay for some of these forms of treatment; about the balance of rights and obligations for health care between individuals and the wider population; and about issues of equity and fairness. Our first question looks broadly at the idea of health care as a ‘consumer good’ in a changing technological and social context.
Question 1 Health care as a consumer good
If an increasing number of medical products and services are becoming available as consumer goods – that is to say, as commodities which customers may choose to purchase provided they can meet the costs (see Annexes 4 and 5) – is this development, on balance, desirable?
No.
If yes...
In what ways do you think the positive consequences outweigh the negative ones?
If no...
In what ways do you think the negative consequences outweigh the positive ones?
Medical interventions and tests (including genetic tests) often give rise to harms as well as benefits. Whether the benefits outweigh the harms will often depend who takes the medicine or supplement, or how the test is used. For example, most tests do not meet medical screening criteria for use in the general population. By definition, a test that is not clinically useful is expected, overall, to do more harm than good (e.g. because of large numbers of false positive results).
A shift to treating healthcare as a consumer good can have some benefits: for example easier access to over-the-counter medication can benefit some patients in some circumstances. However, people lose out on the checks and balances available in a healthcare system, including assessment of harms and benefits and medical oversight and advice. They become less dependent on their doctors but more dependent on information provided by commercial companies, including through advertising and marketing. Examples of public concerns about this were identified by the Science Horizons project. [2] The future scenarios for the Science Horizons ‘Mind and Body’ theme included a computerised health check-up for a busy professional using miniaturised sensors and chips.[3] The major areas of policy raised by the discussions included regulation of personal genetic information and protection of personal data on computer and DNA databases. Overarching issues raised by the Deliberative Panel[4] included:
• trust in expertise - who can be trusted?;
• concerns about the security, privacy and integrity of personal information (IT- or genetically-based);
• concerns about safeguards against abuse of technologies by authorities or by criminals;
• and fears about loss of the ‘human touch’ in everyday interactions, for example in relation to health, and in work.
There was a “striking trust deficit” and some people saw expert priorities for research investments as inevitably not the same as those of the average citizen.
GeneWatch is unaware of any evidence that members of the public are questioning the role of health care professionals as key interpreters of health information and as gatekeepers of medical resources (although they are seeking additional information, particularly via the internet). However, we are aware of considerable evidence that commercial companies are seeking to undermine the role of GPs as gatekeepers, particularly by promoting outsourcing diagnostics and health scans from the NHS.
There are strong commercial pressures to shift to a more consumer-driven approach to health, because this is expected to expand markets. For example, the former Chair of GlaxoSmithKline, Sir Richard Sykes, argues that British people spend too little on healthcare compared to Americans and that the NHS should become a basic safety net, allowing richer people to spend more on pharmaceuticals and other products.[5] He also argues that by 2020, there will be an emphasis on “pre-symptomatic treatment” in developed countries. The focus is on gaining commercial control of diagnostic and prognostic tests, because these are key to defining an individual as a “patient” who can be marketed additional products and services.[6] This is expected to significantly expand the healthcare and pharmaceuticals market, providing greater profits for commercial companies and increasing the “treatment” of healthy people (creating the “pre-symptomatic” patient). [7],[8]
The political decision to outsource diagnostics and allow data-mining of electronic medical records linked to DNA has never been democratically debated, nor have its supposed health benefits been assessed.[9]
Because rich, healthy people make a better market for health products than poor sick, people do, a consumer-led approach tends to lead to over-treatment of healthy people and under-treatment of people who are sick. The US system provides an example of a more consumer-driven system than in the UK or Europe: it is less cost-effective as well as being worse for the overall health and well-being of the population.[10]
Thus, an approach to health that is based on marketing products is not necessarily good for health, and also tends to lead to the neglect of public health. For example, in 2004 the Wanless report[11] noted: “A possible consequence [of the low status of public health] is that pharmacological solutions might become the focus of primary prevention with considerable financial implications. Substantial investment, or reprioritisation, is necessary if this imbalance in research funding is to be addressed”.
Question 2 Validity of information
While much health related information is freely available to individuals, this varies greatly in quality and accuracy. Many of the lifestyle and health books and magazines that are currently available may contain medical information that is misleading or even incorrect from a scientific point of view. Do you think that information provided by DNA profiling and body imaging services raises different questions and should be subject to different regulations?
Yes
If yes…
What are the grounds for restricting access to DNA profiling and body imaging services that may also have limitations in terms of scientific validity and clinical value?
There is a difference between allowing freedom of speech in books and magazines (which necessarily will include some false and disputed information) and allowing products to be sold which are harmful to health. A company selling ‘genetic information’ makes claims about the interpretation of DNA sequence data in order to sell its service. Some body imaging services can be directly harmful (via radiation) but misinformation can also be harmful. Genetic susceptibility tests provide a clear example of one type of market failure that is commonly used to justify regulation – namely, lack of reliable information for consumers about the product they are buying. The market fails for two main reasons: firstly, because many companies do not provide a list of genes or SNPs included in their services, allowing no opportunity for independent verification of their claims; secondly, even if this information is provided, checking its validity and utility is a specialist, time-consuming process, beyond the reach of many customers and even medical professionals. The US Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) defines the clinical utility for decision-making as the balance between the benefits and harms of testing and ensuing follow-up evaluation, treatment or prevention.[12] By definition, tests of poor clinical utility will be harmful, not beneficial, to the population and regulation is therefore justifiable on health protection, as well as consumer protection, grounds. A further complication is added by British libel laws, which place the onus on critics to establish that tests are misleading or harmful, rather than on whoever is marketing them to demonstrate that their claims are valid or the tests are useful.
Whilst tests of any biomarker (not just genetic tests) can be misused in this way, there are a number of pragmatic reasons why the regulation of genetic tests should be a priority:
• Genetic tests can be performed using a mouth swab, making it easier to market them over the counter or via the internet than if a blood sample is needed. This contributes to a rapidly expanding number of companies entering the market with little oversight.
• The large numbers of genetic variations that exist: sufficient to classify 95% of the population as at high genetic risk of at least one disease;[13]
• The expected poor cost-effectiveness of genetic screening, which has major implications for follow-up within the NHS;
• The scientific evidence (discussed below) that genes are poor predictors of most diseases in most people and are not generally useful to make decisions about medicines or lifestyle;
• The large number of false genetic associations reported in the literature and in the press, which mean that the public in general have been given a false impression of the predictive value of genetic susceptibility tests;
• Ongoing misleading claims in the media, that sequencing the whole genome of everyone in the population would be of unquestionable benefit to health (combined with a long history of ‘genohype’);[14]
• The fact that genetic risk factors cannot be changed (unlike e.g. cholesterol levels), making it more difficult to establish the benefit or otherwise of interventions and increasing the risk that genetic categories are used in a discriminatory way;
• The ‘dual use’ of genetic sequences as personal identifiers (biometrics) and as a means to identify and track individuals or their relatives.
If no...
Why do you feel that DNA profiling and body imaging should be freely available to those who wish to receive it? Would you favour regulation of the information appearing in lifestyle and health books and magazines? And if so, what sorts of information in particular require regulation?
Question 3 Prevention
Many governments argue that every individual has some responsibility to look after their own health, in their own interest and that of society at large, for instance in matters of lifestyle and diet. Do you think such individual responsibility should extend to the use of DNA profiling and body imaging services such that people in some circumstances should be expected, encouraged or obliged to have such tests?
No.
If yes...
What are those circumstances, and what should be the nature of such encouragement (for example: information, persuasion, financial incentives)?
If no...
Do you think there are other, more appropriate ways in which people can take personal responsibility for their health, and if so, which? In cases where early diagnosis of disease and subsequent preventive action can reduce later costs of treatment, but people choose not to find out whether they need to take preventive action, is it acceptable that the higher costs for later treatment are paid for by taxpayers or those contributing to health insurance schemes?
Firstly, the question is based on a false premise that these scans are good for health. On balance, indiscriminate use of body imaging services and genetic profiling is likely to do more harm than good. There are no genetic susceptibility tests that currently meet screening criteria for the general population[15] and many scientists are sceptical that any ever will.[16],[17],[18],[19],[20]
Claims that widespread genetic screening will reduce healthcare costs are spurious: they have often been made by vested interests24 and have never been backed with any data.[21],[22]
Healthcare systems which pool risks also tend to be more cost-effective than those which don’t, contrary to the premise in the question.
There is no evidence that advice on lifestyle or diet should be tailored to genetic make-up, except in some specific circumstances (e.g. rare genetic disorders such as PKU; and, perhaps, the major food intolerances – to milk, fava beans and alcohol).[23] However, there is considerable evidence that companies wish to undertake ‘personalised’ marketing of healthcare products (including scans, supplements, skin creams, functional foods and medication) based on genetic test results, with the aim of significantly expanding markets.[24]
The idea that smoking cessation should be targeted at a minority of smokers identified as ‘genetically susceptible’ to lung cancer is a poor health strategy[25],[26] which was invented by geneticists funded by the tobacco industry, and widely promoted and endorsed by leading geneticists in the run up to the Human Genome Project, as they battled to demonstrate industrial applicability and secure funding from the Thatcher and Reagan governments.[27] Ethicists associated with the Human Genome Project subsequently continued to promote the idea that one day a test would be developed to predict which smokers would get lung cancer, even though this claim is false because no twin study has ever identified a significant inherited component to lung cancer. [28]
The food industry later endorsed a similar approach to tackling diet-related disease, again for marketing reasons.23 Although many diet-related diseases (unlike lung cancer) do have a non-zero ‘heritability’ this is a necessary but not sufficient condition for genetic ‘prediction and prevention’ to be a useful strategy for health.16,26 Blaming individuals can mask Government failures to tackle health inequalities or crack down on the marketing of unhealthy foods.[29],[30] At the same time, this approach provides marketing opportunities for supplements and functional foods.
Even where tests or treatments are beneficial, it is ethically unacceptable for people to be forced to use them against their will. It is often difficult for people to change diets or quit smoking and a diversity of policy interventions is needed to improve diets and exercise.[31] The most effective interventions are often not those targeted at individuals but which instead change systems and hence the environment for the population as a whole[32] (e.g. creating sustainable cities or healthier agricultural and food systems). This requires governments to focus more on their own responsibilities, rather than the supposed shortcomings of the electorate.
Question 4 Who pays?
Many DNA profiling and body imaging services (see Annexes 4 and 5) are paid for privately by the individual. However, positive findings may lead the individual to seek publicly funded services for follow-up diagnosis and treatment. Should public services be expected to fund such follow-up?
Yes (but only under certain conditions).
If yes...
Under what circumstances should such funding be provided (for example: in all cases, only if the tests meet certain criteria, only for certain conditions)?
The NHS is founded on the principle that everyone has a right to treatment. However, this should not extend to a right to over-treatment or unnecessary tests and services, especially if these can only be delivered at the expense of others. Thus, publicly funded follow-up should only be available if tests meet certain criteria. Otherwise, if private unregulated screening becomes widely used, the additional costs of “pre-symptomatic treatment” have the potential to destroy the NHS as a universal service (some enthusiasts for widespread genetic screening and “pre-symptomatic treatment” in fact advocate the transformation of the NHS to a basic service, which richer people then “top up”5). In order to reach informed decisions, a pre-market assessment of the clinical validity and utility of genetic tests is therefore required. NHS follow-up should then be provided only for tests which meet clinical utility requirements, whether they have been provided privately or not.
As noted above, the US Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) defines the clinical utility for decision-making as the balance between the benefits and harms of testing and ensuing follow-up evaluation, treatment or prevention.12 By definition, tests of poor clinical utility will be harmful, not beneficial, to the population. If ‘off label’ use of some tests is allowed in the private sector (or purchased overseas), the NHS would not be required to provide follow-up, on the grounds that doing so would in general be harmful to health. However, for this approach to work it is essential for health professionals and policy makers to know which tests are valid and useful in which circumstances: hence regulation is essential.
If no...
Should publicly funded health care services impose fees for such follow-up diagnosis and treatment (for instance by charging patients or by levies on private providers of body imaging and DNA profiling services)?
Electronic health records
The internet is used by more and more people. Although not all population groups use the internet equally or for the same purpose (see Annex 1), it is used widely and increasingly for access to diagnostic information, for purchasing or providing drugs and other health care services, and for storing individuals’ health records (see Annex 2 for more information).
There are two main types of electronic health records. Private providers such as Google Health[33] and Microsoft HealthVault Records[34] are offering these services with the claim that they will enable people to manage their own health information. Public health care systems are also seeking to develop electronic patient records – in the National Health Service (NHS) this has been argued for in the name of medical efficiency, but also because it will give patients “more control of their own healthcare”,[35] as the House of Commons Health Committee has suggested (see Annex 2 for more information about providers of electronic health records).
Question 5 Your experiences
Have you used online health recording systems such as Google Health?
No.
If yes...
What led you to do so and how would you evaluate your experience? Which aspects did you like especially, which ones did you dislike?
If no...
What factors would influence your decision whether or not to use such services in the future?
These ‘services’ are part of an attempt to wrest the power of medical information from the medical profession.[36] The transfer of control is not from doctors to patients but from doctors to the private sector, which plans to offer to interpret people’s medical information for them, including their genome, and to provide personalised biological risk assessments (based on whole genomes and/or SNPs, and subsequently other biomarkers, perhaps including real-time health surveillance, using biosensors, in the future[37]). The intention of the companies involved is to data-mine the information as a direct-marketing tool, with the aim of significantly expanding the market for healthcare products and services, particularly to those identified as ‘genetically susceptible’ to various diseases.24 There is no evidence that this will be good for health.[38] The major differences in people’s health and life expectancy observed in Britain and throughout the world have little to do with individual differences in biology: they are largely due to the social environment where people are born, live, grow, work and age, not differences in biology. [39],[40]
Focus group research in the UK has shown that members of the public instinctively distrust data-sharing of medical information with the private sector and believe that such data will inevitably be used for marketing purposes.[41] There is a general suspicion of all vested interests, not just commercial ones, and ‘people with an axe to grind’ are seen as including patient groups and scientists themselves.[42] Lack of trust in the information likely to be provided is a significant issue, and regulation of genetic tests in particular is seen as of great importance.2,[43]
A major current concern is the proposal to give companies access to ‘pseudo-anonymised’ medical records, linked to DNA samples or sequence data obtained in the NHS without consent (as proposed in last December’s Connecting for Health consultation[44], and the recent House of Lords Science and Technology Committee’s report[45]), on the grounds that they are supposedly conducting research rather than data-mining. Some of the companies involved – including Google and their associated gene testing company 23andMe - have already started a campaign for individuals’ ‘right to know’ the unvalidated results of the personalised risk assessments that they wish to store in electronic medical records (perhaps better described as their ‘right to sell rubbish’). [46] Other companies are lobbying the Government via its Ministerial Medical Technology Strategy Group (MMTSG). [47] The meetings are co-chaired by the US company GE Healthcare, a subsidiary of General Electric, and the industry documents submitted to the meetings:
1. Promote the idea that ‘early health’, involving human genome screening and health surveillance, is the future of medicine and will improve public health and save the NHS money;
2. Oppose any pre-market regulatory assessment of genetic tests, and other medical tests, on the grounds that this would stifle innovation;
3. Argue that public procurement by the NHS should be used to stimulate innovation, along the lines proposed in the 2006 Cooksey Review of health research funding[48] and Lord Darzi’s 2008 review of the NHS[49].
GE Healthcare are also members of Connecting for Health’s External Reference Group, on which they supposedly represent the ‘research community’, along with five other industry representatives.[50]
Research suggests that people are in favour of supporting medical research, but wish to be asked for their consent. [51],[52] Respecting people’s wishes is likely to be important to maintain trust in the use of people’s personal data. People taking part in the Wellcome Trust study indicated they were not unwilling to provide personal data for research if they understood why it was wanted and had confidence in the integrity of the research process, but this confidence could be undermined by a variety of factors. Public acceptance depended greatly upon expectations of how information is used and how well its use is regulated. Other concerns were over who can view the data, with particular resistance to the police and security services having access (such access is not prevented by current legislation[53]).
Online health information
Online health information includes both the simple provision of health information, and websites that offer automated diagnosis and referral. The first can be achieved either through a standard website, where health information is available for consultation, such as WebMD,[54] or through collaborative website mechanisms such as AskDrWiki,[55] where accredited medical professionals collaborate to produce information and advice regarding health concerns.
Automated diagnosis and referral websites, such as NHS Direct Self Help[56] in the UK, use a series of options and questions about symptoms to provide a diagnosis and/or advice based on the data stored by the website and the information provided by the individual. Questions are asked in order of severity, from highest to lowest, so the most potentially urgent issues are dealt with immediately. Dependent on the answers provided, users may be given advice to “call 999”, “seek help”, “call NHS Direct” or be informed that “it is safe to manage this problem yourself at home”. Where it is safe to manage at home, the NHS Direct Self Help website may give advice on what a person can do, such as ”place the burn or scald under a gently running cold tap for at least 15 minutes”.
Question 6 Your experiences
Have you used online sources for diagnostic purposes, for instance those provided by government agencies, patient groups, commercial companies or charities?
Only for research purposes.
If yes...
Which services have you used, what led you to do so, and how would you evaluate your experience? Did you find the service useful in providing the information you were looking for, leading to better care or empowering you when talking to health care professionals? Or did it have some negative effects?
If no...
Under what circumstances if any would you consider using such services in the future?
The internet is an incredibly valuable resource to find information and people’s ability to judge the relative reliability of different information sources should not be underestimated. However, some people may be more vulnerable than others to misinformation.
Conflicts-of-interest can arise when information is provided by commercial companies. This is a particular concern in the area of medical diagnosis (and even more so for ‘prognosis’ or risk assessment) because tests are key to controlling access to medical services and hence the much bigger and more lucrative healthcare market, by by-passing GPs as gatekeepers. There is an important difference between on-line information about a particular medical condition and providing individuals with a diagnostic or prognostic ‘service’ online (often for a fee). It is legitimate to consider regulation of the latter to protect consumers from misleading products and services and to avoid harm to health.
Online drug purchases
Drugs can be provided over the internet by regulated ‘internet pharmacies’[57] that sell prescription medication. But the internet also enables the unregulated purchase of either prescription or non-prescription drugs. Internet purchases are often made across national borders, avoiding country-specific laws and regulations.
The increased availability of drugs over the internet can reduce the involvement of expert physicians in the prescription process. There is also an increased risk of receiving counterfeit drugs of questionable quality (highlighted recently by the US Federal Drug Administration),[58] and this method of purchasing may contribute to increased abuse of prescription drugs.[59] But there may be benefits of purchasing certain drugs over the internet, including reduced costs; personal convenience; and the avoidance of embarrassment (for example, when purchasing medicine for sexually-transmitted infections or anti-impotence drugs).
In some cases, the internet may also allow people to access services that are only legally available in other countries, for example ’morning-after-pills’ for the prevention of unwanted pregnancies.
Currently, drugs may not be advertised directly to consumers in the European Union. But the European Commission is in the process of carrying out a consultation[60] on the relevant Directive[61] and it is possible that in the future some direct advertising of prescription-only medication to consumers may be permitted in some form (for instance over the internet, in health-related publications, or more widely).
Question 7 Your experiences
Have you purchased prescription drugs over the internet?
No.
If yes...
What led you to do so and how would you evaluate your experience (for example, in terms of convenience, facing risks of obtaining the wrong or poor quality drugs, lack of medical supervision etc)?
If no...
Under what circumstances if any would you consider doing so for yourself or a relative or friend?
Purchase of medication (including supplements) from the internet without medical supervision and oversight increases the ease with which companies can use misleading diagnostic or predictive tests to market additional products and services.
Question 8 Advertising health care products
Do you think it should be permissible to advertise prescription drugs direct to consumers?
No.
If yes...
Should there be no restrictions whatsoever? Do you think that it should equally be acceptable to advertise DNA profiling or body imaging services direct to consumers (which is currently not prohibited in the UK, see Annex 7)?
If no...
What are your main concerns? Are you confident that access to drugs via GPs is a better alternative, ensuring that you will always receive the drug that is best suited to your specific condition? Do you think that advertising DNA profiling or body imaging services should equally be restricted or prohibited?
GeneWatch agrees with concerns expressed by Consumers International and others that advertising is not information and that drug advertising codes are often breached, leading to the provision of misinformation that may be harmful to health.[62] There is a fundamental conflict-of-interest between expanding drug markets and making the best medical decisions.
Myriad’s notorious TV advertising campaign in the US for its BRCA1/2 genetic tests highlights the dangers of allowing unrestricted advertising for genetic tests. The ads implied that all women with a family history of breast cancer would be empowered by asking their doctor for a test, in breach of NICE guidelines and other medical guidelines which recommend only using these tests (which do not meet screening criteria for the general population) in the context of a strong family history of breast/ovarian cancer. Medical screening criteria exist to prevent harm to health from screening programmes. Advertising exists to attempt to expand markets and hence, in effect, to implement tests that may be indicated for use in a subset of the population as screening tests, by marketing them to the general population. This is likely to harm health. At a minimum, ads for genetic tests should be required to state the limitations of tests and the target population, and should be banned for unregulated tests (i.e. tests that have not had a pre-market assessment of clinical validity and utility). Advertising claims should be consistent with the outcome of this regulatory assessment, i.e. should not imply that use of the test should be extended to a different target population, or that the test has any benefits other than those assessed.
Telemedicine
Here we use ‘telemedicine’ to denote all forms of health care carried out at a distance.[63] For example, teleconsultation involves communication between patient and health care provider, or between doctor and colleague. This often occurs by telephone or video link. One of the most common uses of teleconsultation between health care professionals is teleradiology, where X-ray images are sent electronically to a remote centre for diagnosis. Telepsychiatry has also become increasingly common, where the psychiatrist interacts with the patient via a video link.
Teleconsultations have the potential to improve access to health care in remote or rural areas where there are few doctors, in particular specialists. It may also enable older people to stay at home, rather than travelling some distance to see a health care professional. On the other hand, teleconsultations usually involve a doctor–patient relationship that is partly or wholly ’virtual’, without the traditional face-to-face contact.
Question 9 Your experiences
Have you used information technology to access individual health care expertise at a distance?
No.
If yes...
Which services did you use, what led you to do so, and how would you evaluate your experience? Would you recommend it to others?
If no...
If you were faced with the choice of using such technology or undergoing the costs and/or inconvenience of travel over a substantial distance to access or provide those services on a face-to-face basis, what factors would affect your choice?
Question 10 Who pays?
Should remote access to GP services be provided through telemedicine for those in remote and rural locations?
If yes...
Provided this results in higher costs: should it be the patient or the public health care provider who pays for the extra cost of providing services this way, or should costs be shared in some way?
If no…
What are your reasons? Do you think some degree of unequal access to public health care is simply justified (for example, if individuals choose to live and work or retire in remote rural areas)? Or do you think that there are means other than telemedicine that are better suited to achieving more equitable access to health care?
Body imaging
The main technologies considered here relate to computed tomography (CT) and magnetic resonance imaging (MRI). Similar to ‘standard’ X-ray technology, CT and MRI scans can provide non-invasive images of parts of the body that are not usually visible. CT and MRI are, however, more sophisticated in terms of resolution and level of detail and may reveal abnormalities indicative of disease processes (see Annex 3 for more information on body imaging techniques). Unlike MRI, CT scanning exposes an individual to a clinically significant dose of radiation, although the dose can vary depending on the type of scan, machine and methods used.
Within the NHS, CT and MRI are regularly used in the diagnosis of a number of specific diseases and conditions, such as pulmonary embolisms or various cancers. The test sensitivity is set quite high to avoid missing cases. This leads to relatively large numbers of false positives (where the test wrongly indicates that a person may have the disease in question) and the identification of benign abnormalities as potentially harmful.
Whereas body imaging is only provided through the NHS following referral from a GP, private body imaging is often performed without referral by a doctor, for example for the purposes of a ‘check-up’ and to provide a person-specific disease risk profile. Some providers offer so-called ‘whole body’ scans (see Annex 4 for more information on private body imaging services).
DNA profiling
Genetic factors are known to affect susceptibility to many diseases. Advances in genetics are leading to improvements in understanding of both the relative importance of genetic factors for various diseases and predispositions, and also the associations between genes, diet and the environment. Recent technological developments have enabled scientists to analyse individuals’ genetic make-up far more accurately, cheaply and quickly than before (see Annex 5). As in the case of body imaging, these services are frequently offered with the promise of profiling people’s susceptibility to particular diseases in a way that helps them to be and stay healthy.
Some genetic variations indicate that an individual is highly likely or certain to develop a particular disorder. Most people are now familiar with the concept that single genes can often have dramatic consequences for people’s health, as in the case of Huntington’s disease. Many monogenic disorders, i.e. diseases resulting from mutation of single genes, have been identified, and DNA testing for diagnosis or prediction of these diseases already exists. The NHS, for example, offers some 300 different tests for such conditions, including cystic fibrosis.
Within the NHS, DNA tests for genetic disorders are only made available after evaluation by the UK Genetic Testing Network. This body assesses the test’s analytic and clinical validity, its clinical utility, and the ethical, legal, and social implications. Analytical validity refers to the accuracy of the test in identifying the biomarker; clinical validity refers to the relationship between the biomarker and clinical status; and clinical utility measures the likelihood that the test will lead to an improved outcome for the test subject. The assessment is passed on to the Genetics Commissioning Advisory Group, which makes recommendations as to which tests should be provided by the NHS.
DNA profiling services offered by private providers are often marketed to people with no medical indications, and are not subject to the same assessment procedures. A journalist who submitted the same DNA sample to different companies found that there was considerable variation in the findings, and a scientific review concluded that the increased disease risk associated with the genes that the companies tested for had either not been sufficiently investigated or were “minimal to not significant” (see Annex 6). While the focus of most providers is on individualised health risk profiles, some companies additionally offer ‘recreational genetics’ services, such as ancestry and genealogy. Others, such as Genepartner,[64] specialise in using genetic analysis to help people find a romantic partner or ascertain whether their children are likely to excel in particular sports, such as Atlas Sports Genetics.[65] Profiling services are available directly to the individual through a number of companies based in Europe and the USA, mostly advertised and marketed via the internet (see Annex 5).
Clients typically send a saliva or tissue sample, the DNA in which is then analysed either for specific biomarkers (variations in the genome which are associated with specific diseases), or to sequence the entire genome, depending on the service offered. Clients can usually access the results by logging on to protected sections of the companies’ websites.
Some have called for regulation of direct-to-consumer DNA profiling, such as the PHG Foundation and the Royal College of Pathologists in a recent joint report.[66] The Human Genetics Commission (HGC) has also suggested in its reports Genes Direct[67] and More Genes Direct[68] that the current NHS system for allowing access to multi-factorial DNA profiling[69] should apply also to multi-factorial DNA profiling offered by private firms. Others maintain that the current regulatory system is satisfactory and that individuals cannot usually be harmed by the knowledge provided by multi-factorial DNA profiles (see Annex 7).
Body imaging and DNA profiling services: cross-cutting issues
DNA profiling and body imaging services differ in one sense, as the former generally aims to tell people what is likely to happen in the future, whereas the latter seek to tell them what diseases they already have. At the same time, the public and private use of these services raises common issues about the supply of information before and after using them, the quality and validity of the services themselves, and the regulation of such services.
There is currently insufficient evidence to assess whether or not CT scans are a cost-effective screening tool for reducing disease. But it is known that there can be significant harm associated with the use of CT scans, such as that caused by the radiation dose required or the identification of benign abnormalities which may lead to further unnecessary investigations. MRI scans have no radiation-related side effects but their sensitivity may entail high detection rates of false positives. In addition, some diseases are difficult to identify using MRI and in such cases a patient may wrongly believe they have been given the ‘all-clear’. There is currently no specific regulation that applies to private providers of body imaging in the UK,[70] in contrast to the comprehensive testing regime that exists within the NHS. Some have even suggested that the use of MRI scans should be restricted to medical research.[71]
There is also lack of consensus about what information should be provided to customers by private DNA profiling companies before or after their services have been used (see Annex 7). Technology in this field is changing rapidly, and in the future it may be possible for people to use home DNA profiling kits that do not require an external provider. If so, it would give parents an opportunity to profile their children, raising questions about whether or how such a vulnerable group should be protected (for example, it might be argued that children should be given the option of deciding later in life whether they want to know or not know about their genetic susceptibilities to developing particular diseases). These services are also offered across national borders, meaning that regulation based on any one national jurisdiction may have limited effectiveness. Because of these issues, the HGC is currently working on a proposal for a Common Framework of Principles for Direct Genetic Tests,[72] that it will recommend be implemented internationally.
Question 11 Your experiences
Have you used the services of a body imaging or DNA profiling company (see Annexes 4 and 5 for examples)?
No, but GeneWatch has conducted many investigations of the reliability of the information provided by gene testing companies.
If yes...
What led you to do so and how would you rate the services of the company? How useful was the information you received? Please indicate which provider and which service package you used.
If no...
If you were thinking about using such services, what information would you want to receive in advance and what kind of information would you find most useful to receive after the profiling?
Genetic testing services offered on a commercial basis to the general population are in effect screening tests which do not meet medical screening criteria.
Links between genetic factors and common diseases can provide useful clues about biology and how diseases develop.[73] But most genetic factors seem to change a person’s risk of common diseases only very slightly. Rather than a single gene predisposing someone to disease, it now seems likely that everyone possesses hundreds, perhaps thousands, of genetic variants some of which slightly increase their risk, whilst others slightly decrease it. 19,17This means that the idea that an individual’s genetic risk of common diseases can be predicted has become increasingly controversial amongst scientists. 18,20
In general, common genetic differences are not more but less predictive than most other types of test, and no common genetic variants exist – either singly or in combination - that meet medical screening criteria for the general population.15 Companies marketing genetic tests for common diseases have therefore been widely criticised for providing largely meaningless – and often false – interpretations of people’s risk of various diseases. Tests by different companies give conflicting results[74] because it is not yet possible to calculate a person’s genetic risk of any common disease due to the large number of unknown factors thought to be involved.[75],[76]
Most geneticists are puzzled at the lack of success in finding the expected inherited component of common diseases. [77],[78] Whilst many believe that more genes will be discovered which explain this ‘missing heritability’, others have long criticised the calculations (made from twin studies), and claim that the assumptions used inevitably exaggerate and oversimplify the role of genes. [79],26
No common genetic variants that meet medical screening criteria for the general population have been identified to date, however many tests for common genetic variants are already being marketed. This has the potential to harm health by:
• targeting the wrong health advice at the wrong people;
• confusing healthy-eating messages or advice to quit smoking;
• leading to the over-treatment of healthy people who may take unnecessary medication or supplements;
• undermining public health approaches and diverting resources from the social, environmental and economic changes that are needed to prevent ill-health.
A review of commercially available genetic tests published in 2008 found significant statistical associations with disease risk for fewer than half of the 56 genes included in the tests.[80] The authors also questioned how the companies studied could provide meaningful genetic risk assessments for complex diseases in the absence of information about multiple genes and gene-gene interactions, and how personalised advice on supplements and diets could be given in the absence of any reliable data on gene-diet interactions.
For genetic tests used to target environmental or lifestyle interventions, no gene-environment interaction means that the test performs no better than randomly selecting the same number of people from the population.26 Harm to population health will result if a genetic test is used to target lifestyle advice or medication at a high risk group which has less to gain from the intervention than the low risk one: assessing the clinical utility of the test, not just its clinical validity, is therefore essential.
The problems are not limited to genetic risk profiles marketed by US companies on the internet. For example, in 2007, GeneWatch UK found that UK company Genetic Health was marketing misleading genetic information via its Harley Street clinic (including false information about cancer risk).[81] An ITV programme which featured Genetic Health providing four celebrities with tests, broadcast in November 2007, was the subject of a complaint by the British Society of Human Genetics.[82] Geneticists and health professionals subsequently warned the public that genetic tests that claim to predict the risk of developing life-threatening diseases are a waste of money and can frighten healthy people.[83] Experts later described the predictions and advice from Genetic Health as "poor", "flawed”, "misleading" and "baloney".[84]
Other misleading genetic tests that have been marketed in the UK include tests marketed by UK companies via the internet (the so-called ‘Nicotest’); by US companies via alternative healthcare providers (the ‘Genovations’ tests); and by the then UK-based company Sciona, which sold genetic tests with dietary advice in the Body Shop in 2001/02. [85] Following criticism of its claims by GeneWatch, Sciona relocated to the USA and was the subject of a critical investigation by the US Government Accountability Office (GAO) [86] – it has recently ceased to trade.
Leading UK psychiatrists have also denounced plans by other US companies to market genetic tests claiming to identify susceptibility to bipolar depression or schizophrenia on the internet.[87],[88] One of the authors of a recently published study on schizophrenia warned that: "It would be unscrupulous for anyone to use these data for genetic testing for schizophrenia".[89] However, the internet gene testing company 23andMe already feeds back gene test results for schizophrenia in one of its research reports.[90] The idea that schizophrenia is caused by a single ‘predispostion’ gene, triggered by environmental factors, was once widely promoted but is demonstrably false. There is a real danger of misinterpretation of results, particularly by young people with relatives suffering from this condition. The idea that gene tests for schizophrenia require less counselling than tests for Huntington’s Disease, because they are poorly predictive, only makes sense if people are aware that such tests are useless (in which case they will probably not buy them).
For feared diseases, such as cancers or psychiatric disorders, misinformation could lead to unnecessary anxiety and perhaps serious psychological harm. However, the public health consequences of widespread misleading genetic information could be very serious even when the impact of such misinformation on individuals may appear to be relatively trivial: for example, when assessing genetic susceptibility to obesity or type 2 diabetes, simply by confusing healthy eating messages and promoting medical approaches to ‘treating’ genetic risk, rather than public health approaches (see Q3). In this context, there is some evidence that information that a condition is caused by genetic predisposition may reduce the expectation that a behavioural means of coping such as changing diet will be effective, but increase the expectation that medication will be effective.[91] This could be particularly problematic for conditions where the opposite is thought to be the case.[92],[93]
About 600 genes have been linked with increased risk of obesity but only two (possibly three) of these have been confirmed as more studies have been done. Together they account for less than 1% of the observed differences in body mass index (BMI) between individuals.[94] These genes are thought to influence appetite, not metabolism: they do not mean that some people can eat more than others without getting fat, or that only a minority of people need to eat healthily.[95] Type 2 diabetes (adult-onset diabetes) is strongly linked with being overweight. A total of 18 genes have been linked with type 2 diabetes but they do not improve risk predictions compared with measuring existing risk factors (such as body mass index, waist size and blood glucose levels).[96] The Scientific Advisory Committee on Nutrition (SACN) has warned that “The provision of additional nutritional advice on the basis of genetic testing is speculative at best and may even be harmful and is not recommended by SACN”.[97] Nevertheless, the food manufacturing industry prefers a genetic approach to tackling diet-related disease because this suits its commercial interests, allowing the personalised marketing of value-added functional foods, rather than restrictions on the salt or fat content of processed foods.23
Question 12 Regulation
Do you think it is satisfactory for DNA profiling and body imaging services to have to pass stringent evaluations before they are provided in the NHS, but for them to be readily available on a commercial basis without having to go through such evaluations?
If yes...
Why do you believe more stringent evaluations are required in the public sector than in the private sector? If commercial DNA self-profiling products were to be developed in the future, enabling people to profile themselves (or others) whenever they want, do you think any legal, regulatory or other restrictions should be imposed beyond those applying to existing self-profiling products, such as pregnancy testing kits?
If no...
Do you think the NHS requirements should be less strict, or that more regulation should be imposed on private providers? What measures would you consider most suitable? For example: disclosure requirements such as labelling rules; voluntary codes of conduct or ‘kitemarking’ arrangements; legal requirements to restrict market entry; restrictions or bans on advertising; tougher penalties for breaches of established rules; or stricter post-market monitoring and surveillance.
No. All genetic tests should have a pre-market assessment of clinical validity and utility by an independent regulator (including so-called ‘lifestyle’ tests, which often include disease-associated genes and are combined with health advice). Otherwise, there is no possibility of protecting consumers or preventing the NHS having to provide unnecessary follow-up tests and treatments. However, after such an assessment the NHS may wish to make additional assessments, such as for cost-effectiveness. There may be some flexibility to allow tests that are not cost-effective for the NHS, or that are requested by individuals in specific circumstances to be provided ‘off-label’ in the private sector, as can happen with other private sector services and medication. However, allowing this to happen without a prior regulatory assessment is a recipe for disaster and confusion because members of the public and healthcare professionals will have no way of knowing whether they can trust the results of a test, or any associated information they have been provided about the need for further interventions, medication, scans or health advice.
Although the importance of genetic counselling may differ substantially between different types of genetic test, it is unclear how consumers are supposed to be aware, for example, that testing SNPs associated with breast cancer has much lower predictive value than testing mutations in the BRCA1/2 genes, unless they are provided with pre-test information to this effect, and can seek further information post-test to interpret the results. Appropriate counselling should therefore always be provided, though it may be more limited in some circumstances than in others. Unless counselling is provided independently, there is also a danger that commercial companies have an incentive to exaggerate the predictive value of their tests.[98]
Testing children in ways that are unnecessary for their immediate care is unethical[99], and it is arguable that the difficulties in regulating internet sales to children (either directly or via testing by their parents) is sufficient grounds for banning internet sales, at least for some tests (such as tests that claim to predict psychiatric disorders[100]). However, requiring medical oversight of tests alone is insufficient, as the example of the tests marketed by Genetic Health (described above) shows.
GeneWatch UK supports the principles adopted in the Council of Europe’s Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes.[101] As well as requiring appropriate counselling, the Protocol states:
“Parties shall take the necessary measures to ensure that genetic services are of appropriate quality. In particular, they shall see to it that:
a. genetic tests meet generally accepted criteria of scientific validity and clinical validity;
b. a quality assurance programme is implemented in each laboratory and that laboratories are subject to regular monitoring;
c. persons providing genetic services have appropriate qualifications to enable them to perform their role in accordance with professional obligations and standards.
And that:
“Clinical utility of a genetic test shall be an essential criterion for deciding to offer this test to a person or a group of persons”.
We recommend that the Government signs and ratifies the Convention and its Protocols, and that the European IVD Directive is also extended to require pre-market assessments of clinical validity and utility.[102],[103] The recommendation in the House of Lords’ Genomic Medicine Report that genetic tests are reclassified as medium-risk is insufficient because the Medicines and Healthcare Regulatory Agency (MHRA) currently interprets the requirements of the Directive so as to cover only analytical validity (in line with the industry view promoted via the MMTSG, of which the MHRA is a member), although this interpretation is not consistent with that of some other member states.[104]
Although aspects of any technology assessment are always subjective, a transparent and widely supported process is already available. The ACCE process, which takes its name from the four components of evaluation—analytic validity, clinical validity, clinical utility and associated ethical, legal and social implications—is a widely supported model process for evaluating data on emerging genetic tests.[105]
The principles and process of assessing clinical validity and utility does not differ significantly from any other form of technology assessment, although social and ethical issues may vary. As an example, the US Agency for Healthcare Research and Quality (AHRQ) recently did a technology assessment of outcomes of genetic testing in adults with a history of venous thromboembolism (VTE) as part of the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative.[106] They conclude: “There is no direct evidence that testing for these mutations leads to improved clinical outcomes in adults with a history of VTE or their adult family members. The literature supports the conclusion that while these assays have high analytic validity, the test results have variable clinical validity for predicting VTE in these populations and have only weak clinical utility.”
Due to the lengthy process of revision of the IVD Directive, GeneWatch also recommends that the UK Government puts in place its own system of regulation of tests, as a number of other countries have already done. As a first step it should ensure immediate implementation of the OECD guidelines for quality assurance in molecular genetic testing[107] which state:
• Advertising, promotional and technical claims for molecular genetic tests and devices should accurately describe the characteristics and limitations of the tests offered (A.9).
• Laboratories should make available information on the analytical and clinical validity of tests (A.ii).
• Laboratories should make available to service users current evidence concerning the clinical validity and utility of the tests they offer (B.vi).
• The interpretation of molecular genetic test results should be appropriate to the individual patient and should be based on objective evidence (D.4).
• Reports should be timely, accurate, concise, comprehensive, and communicate all essential information to enable effective decision-making by patients and healthcare professionals (D.ii).
The provisions in the Council of Europe’s Protocol are consistent with the OECD guidelines, but go further in that they require certain criteria to be met before genetic testing services are offered: an essential additional step in order to protect consumers and prevent harm to health.
The SACGHS (2008) report notes that significant harms (real or potential) can occur if a genetic test is used before its clinical validity is understood (pages 108-111). For example: “In the event of false-positive test results, individuals may be exposed to an unnecessary battery of testing or treatment. A false-negative test result could give false reassurance regarding risk due to nongenetic causes or induce psychological effects such as survivor guilt. False-negative results may delay diagnosis, screening, and treatment”. In order to assess clinical validity data must be provided on sensitivity, specificity, positive predictive value, negative predictive value etc. For multiple variants, a Receiver Operator Curve can be calculated, provided the genetic architecture of the disease is known (see e.g. Clayton, 200916). The Area Under the Curve (AUC) provides a measure of the suitability of the test for use as a screening test in the general population (see e.g. Jakobsdottir et al. (2009)15).
Clinical utility must be evaluated within a specific context and utility may vary, depending on the context and available alternatives. The SACGHS (2008) report states: “The additional benefit or harm that would be achieved by using the genetic test is called the incremental benefit or incremental harm. These benefits and harms should be considered at the individual, family, and societal levels”. As noted above, even a valid genetic test used to tailor lifestyle advice may provide no incremental benefit over and above random selection if there is no gene-environment interaction (i.e. if the selected high risk individuals have no more to gain by following the advice than the low-risk group).26 Simple tests, such as measuring BMI with a set of scales and a tape measure, may also be of greater benefit than a genetic test in many circumstances.
Regulation of clinical validity and utility would protect health by considerably restricting the market for genetic susceptibility tests to those that are genuinely of benefit. In contrast, the prospect that a voluntary code of practice will restrict the market is practically zero, because no commercial company is going to agree to sign itself out of business.
Question 13 Responsibility for harm
The results of DNA profiling and body imaging may lead people to seek appropriate treatment. But it may also lead to harmful actions, such as inappropriate self-medication, or people may become more fatalistic, believing that there is no point in altering their lifestyles. In the most extreme cases some people could become suicidal as a result of the predictive information they receive. Should providers ever be held responsible at law for such harms?
If yes...
In what circumstances? Should providers of other services such as pregnancy tests also be held responsible for what distressed or misinformed individuals might possibly do with the information they obtained?
If no...
How, if at all, do you think the interest of vulnerable groups should be safeguarded?
It would be much better to prevent such harms by regulating tests as described above. Some predictive gene tests are useful to some people (e.g. tests for predisposition to familial cancers) and an excessive reliance on litigation against providers could harm provision of these tests. The potential for harm should instead be limited by ensuring that information is reliable and useful, not false or misleading; that people are well-informed before they take a test of its possible consequences for their health and psychological well-being; and that ethical standards are met (for example, that testing of children is limited to their immediate healthcare needs).
Question 14 Quality of information
Some have criticised current commercially-available body imaging and DNA profiling services for giving information that is of limited quality and usefulness. Do you think more should be done to improve the quality and usefulness of body imaging and DNA profiling services?
Yes, but only where existing data indicates that further research is likely to lead to the development of a useful test.
If yes...
Who should pay? Should there be publicly funded investment, or should private companies be left to develop better methods?
The answer to this question depends on the extent to which widespread genetic susceptibility testing, or even whole genome sequencing, is expected to deliver benefits to health. Whilst GeneWatch agrees with the House of Lords’ Science and Technology Committee’s Genomic Medicine Report that the clinical validity, utility and cost-benefit of genetic tests should be evaluated before their implementation in the NHS, we disagree that there should be substantial public investment in the translation of genome sequencing into clinical practice, including the massive investment envisaged in storing and analysing data in electronic medical records linked to genomic information, and in ‘educating’ health professionals to belive in this vision for the future of healthcare. This is because there is already ample evidence that the predictive value of genetic susceptibility testing is in general likely to be low, as is its clinical utility (see the numerous references cited above). It would therefore be extremely wasteful to spend (even more) public money on genetic ‘prediction and prevention’ as a strategy for health. Further, there has never been any independent assessment of the likely health benefits of this approach, which has been driven largely by vested interests and/or a narrow circle of government advisors.9 In our submission to the Science and Technology Committee[108] we highlighted the urgent need for the Government to commission an independent assessment of the costs and benefits of implementing genetic ‘prediction and prevention’ in the NHS. A preliminary assessment can be made for many diseases using existing data, using a variety of different approaches (based on twin and family data and existing known genetic data16,26) and it is already possible to conclude that this approach is unlikely to deliver benefits to health except in certain specific circumstances.
In general, public money should be spent on further research only where existing data suggests that a test may be of sufficient predictive value and clinical utility to warrant it. (This does not preclude research into disease mechanisms being publicly funded, but often different research is needed to explore causal mechanisms than to predict risk). If companies wish to market tests outside these areas the onus should be on them to fund the collection of the necessary data to meet regulatory requirements. In general, research funding decisions should be more democratically accountable and not driven by vested interests with no independent oversight or scrutiny.
If no...
Is it sufficient to rely on the so-called ‘buyer beware principle’ in such cases, by putting the onus on the purchaser to find out about the quality and associated risks of the product they are buying?
Other issues
Question 15
Are there any other issues we should consider?
The promotion of a ‘genetic revolution’ in healthcare by the House of Lords Science and Technology Committee amongst others has proceeded in the complete absence of any democratic debate about its costs, benefits (or lack of) and implications for the NHS. Over £12 billion is being invested in a centralised system of electronic medical records in order to implement this vision, despite the fact it has no credible scientific basis.24 Major policy changes, such as the data-sharing proposals in the Coroners and Justice Bill (withdrawn due to massive public opposition but now likely to be implemented by stealth via Connecting for Health’s Secondary Uses Service) have been proposed and implemented without any public discussion about who is driving this agenda or whether it is good for health. GeneWatch UK recommends that the Council urgently considers the implications for democracy (and public trust in science) of these developments.
The direct-to-consumer marketing of genetic tests is not distinct from attempts to outsource diagnostics (and, more importantly, prognostics) from the NHS to the private sector and to allow commercial companies access to (pseudo-anonymised) medical and genetic data stored in the NHS.
Any potential benefits of genetic research in identifying disease mechanisms and pathways are likely to be lost if commercial interests are allowed to data-mine people’s DNA and medical records without consent and to make misleading claims about their health. It is unlikely that a society in which every individual is tagged and categorised using their DNA would be good for health or be widely welcomed by the general public.
Annex 1: UK internet usage statistics
Households with access to the internet, Great Britain 2002–2008
[pic]
Source: National Statistics Internet Access 2008 Households and Individuals, available at: . Crown Copyright material is reproduced with the permission of the Controller, Office of Public Sector Information (OPSI).
Internet activities of recent internet users, by age groups, UK, 2008
[pic]
Source: National Statistics Internet Access 2008 Households and Individuals, available at: . Crown Copyright material is reproduced with the permission of the Controller, Office of Public Sector Information (OPSI).
Annex 2: Electronic health records – examples of service providers
Third-party controlled records
Google Health[109] and Microsoft HealthVault Records[110] are examples of online records services controlled by third parties. Google Health, which only offers full functionality for users within the USA,[111] aims to: “store and manage all of your health information in one central place”, with the ability to “access your information anywhere, at any time”. The advantage that is claimed for such services is that they enable individuals to build up a comprehensive personal health profile that can keep their doctors up-to-date; avoid repetitive paperwork and lab tests; ensure that medical records are not lost; and put individuals in control of their own health data.[112] Individual control of data is emphasised: “you are in control”, “you manage your health information” and “your health information belongs to you”.[113] Microsoft HealthVault is a similar system, although only users in the USA can sign up for the service. Microsoft claims that “HealthVault offers you a way to store health information from many sources in one location, so that it’s always organised and available to you online”.[114]
Health-service controlled records
The NHS Care Records Service[115] which, within the UK, has so far only been introduced in England on a trial basis, enables individuals’ health data to be “shared between different clinicians, organisations and tiers of care”,[116] in a variety of different forms. Records range from those designed to contain only basic demographic information to those containing extremely detailed clinical patient information intended to be shared across local health providers.[117] The House of Commons Health Committee has suggested that the system will give patients “more control of their own healthcare.”[118]
Annex 3: Body imaging – how it works
CT scans use special X-ray equipment to gather image data from different angles around the body. Digital processing of this information produces cross-sectional images of body tissues and organs in either two- or three-dimensions.[119]
MRI is defined by the American National Institutes of Health as “…a non-invasive test that creates detailed images of your organs and tissues”.[120] MRI scans work by detecting the body’s response to strong magnetic fields. Similarly to CT scans, computers are then used to construct visual images from the information gathered by the scan.[121]
Annex 4: Body imaging – example service providers[122]
|Company |Types of service |Risk information |Marketing |Example costs |
|European Scanning |Electron beam CT scan. |Indirect mention of radiation|“We all know that prevention is|Not provided. |
| |MRI. |risk, in context of statement|better than cure.” | |
| |Ultrasound. |that EBCT offers lowest risk.| | |
|Lifescan |Range of CT scans. |Some information on risks |“Spring is the time to give |£110 (Bone density |
| |Virtual colonoscopy. |given on website. |yourself an MOT with Lifescan”,|scan) - £825 (Life Scan|
| |Heart and lung scan. | |“Check you’re as well as you |plus virtual |
| |Bone density scan. | |feel.” |colonoscopy). |
|Preventicum |MRI scan of whole body. |Risks of radiation and false |“The most advanced and safest |£2,150 (Preventicum |
| |MRI of arteries, brain, colon, |positives given and debate |full body check-ups in the UK.”|Ultimate MRI) - £2,475 |
|preventicum.co.uk |heart. |surrounding clinical use of | |(Preventicum Ultimate |
| | |CT scans acknowledged. | |Plus MRI.) |
|Prescan |MRI and CT scan of whole body. |Some discussion of risks, |“Prescan's Total Body Scan is |£440 (MRI scan per body|
| | |false positives and false |rated with a 9 by Dr Thomas |part) - £1,290 (Total |
|prescan.co.uk | |negatives. |Stuttaford from The Times!” |Body Scan MRI and CT). |
Annex 5: DNA profiling – example service providers[123]
|Company |Type of service |Detail |Risk information |Marketing |Cost |
|Knome |Full genome sequencing. |“Although more |Provides “comprehensive |“Once your entire genome |Prices quoted as |
| | |resource-intensive, we use|analysis [of sequence] from a |has been sequenced, you |varying between |
| | |whole-genome sequence |team of leading geneticists, |will be able to stay |individual |
|(online only) | |information as the basis |clinicians and |current on future genetic |customers. |
| | |of our analyses, instead |bioinformaticians.” |discoveries as they become| |
| | |of the SNP genotyping”. | |available.” | |
|23andMe |DNA variant profiling to |Around 550,000 DNA |Provides access to raw data, |“Genetics just got |USD399 (£268). |
| |provide: risks of various |variants profiled. Raw |and information on risk of |personal.” | |
| |diseases and traits; and |data and analysis provided|disease based on genetic | | |
|(online only) |information about ancestry|through personal online |profile, ethnicity and age. | | |
| |and family inheritance. |account. Information can |Risks provided as numerical and| | |
| | |be shared with linked |pictorial representation of | | |
| | |friends and family (or |odds ratios, and average odds | | |
| | |others) by mutual |ratio for someone of the same | | |
| | |agreement. |ethnicity and age. | | |
|Genetic Health |Various packages offered, |Each package genotypes |Before and after the test, |“We can advise you how to |£180 (Pharmaco |
| |each using DNA variants to|different DNA variants. |clients receive a consultation |create your own individual|Gene)-£825 (Premium |
|genetic-health.co.uk |check for genes associated| |with a doctor either by |plan for cardiac disease |Male or Female). |
|(and London location) |with particular ranges of | |telephone or face-to-face. |prevention based on your | |
| |diseases/traits. | | |results” [for cardiac | |
| | | | |test]. | |
Annex 6: Information provided by private DNA profiling services
The information provided by DNA profiling companies has been investigated both journalistically and academically. In one newspaper article,[124] a journalist approached several companies including: GeneticHealth (a UK firm), deCODEme (based in Iceland) and 23andMe (an American organisation), in order to compare their test results.
There was considerable variation in the way in which information was provided, and specific risk predictions also differed considerably. For example, deCODEme stated that the risk of developing exfoliation glaucoma for the individual being profiled was 91 per cent below average, while 23andMe claimed the risk was 3.6 times more likely than average. In the case of heart problems, deCODEme quoted a risk of a heart attack, angina or sudden cardiac death at 54.8 per cent, or 6 per cent above average, while 23andMe claimed the risk of a heart attack between the ages of 45 and 84 for the individual concerned was 17.5 per cent below average.
In early 2008 a scientific review of tests offered by seven companies was published. The review assessed the evidence supporting the purported associations between genes and diseases. It concluded that the increased disease risk associated with the genes that the companies tested for had either not been sufficiently investigated or were “minimal to not significant”. In addition, the review warned that “those with ‘low-risk’ profiles could be led to mistakenly believe that they have little need to make health lifestyle changes.”[125]
Annex 7: Regulation of DNA profiling and body imaging services
DNA testing
In the UK, medical DNA tests are governed by the European Union In Vitro Diagnostic Devices (IVDD) Directive.[126] The Medicines and Healthcare products Regulatory Agency (MHRA) ensures compliance.[127]
The IVDD Directive applies only to devices for medical purposes.[128] The majority of DNA tests are currently placed in ’Category 1’, the low risk category. Tests for phenylketonuria, HLA tissue type and Down’s syndrome are classed as high risk, although no new genetic tests have been added to the high risk category since the publication of the Directive in 1998. For low risk tests, the HGC’s report, More Genes Direct, notes that ”no independent evaluation of manufacturers’ claims is required”,[129] i.e. no regulatory approval is required prior to the test being placed on the market.
The exact scope of the term ‘medical’ in this context is not clear. The MHRA has indicated that ‘lifestyle’ tests, for example a test that purports to explain how well a person’s metabolism deals with alcohol,[130] are not medical in nature.
The marketing and advertising of genetic tests in the UK is regulated by a number of bodies, including the Advertising Standards Agency (ASA), the Office of Fair Trading (OFT) and the Office of Communications (Ofcom).
The ASA administers the British Advertising Codes. These codes are the responsibility of an industry body, the Committee of Advertising Practice, but are independently administered by the ASA.[131] The ASA requires that an advertisement be “capable of objective substantiation”, and not be misleading.[132] The ASA only responds to complaints, and does not generally carry out investigations on its own initiative. There are a variety of sanctions available, including preventing the advertiser from continuing to use the advert in question, publishing the decision on the ASA website or referring the publisher of the advert to Ofcom or the advertiser to the OFT.[133] Where a complaint concerns a device such a genetic test, both the ASA and the OFT have stated that they would be likely to consult with the MHRA for further advice.[134]
In terms of internet advertising, the ASA is restricted to considering advertisements in ‘paid’ space (i.e. those search results that appear as a result of the company in question paying the search engine provider) and not any claims made on their own websites. In those cases, the issue is the responsibility of the local Trading Standards Office.
Body imaging
The Ionising Radiation (Medical Exposure) Regulations 2000 require that all individual medical radiation exposures (such as from a CT scan) must provide sufficient benefit to offset any harm done, and exposures should be kept as low as reasonably practical.
However, there is no general regulatory framework applicable to private providers of body imaging services, in the same way that the National Screening Committee (NSC) regulates the public sector in the UK, although it has been suggested that this would be desirable.[135]
A government advisory panel published in 2007 a report into the impact of personally initiated CT scanning for the health assessment of asymptomatic individuals. The panel, the Committee on Medical Aspects of Radiation in the Environment, reports that there is insufficient evidence to justify the use of medical exposure for ‘whole body scans’, and recommends that “services offering whole body CT scanning of asymptomatic individuals should stop doing so immediately”, while those that offer scans for regions of the body should in the advertising “clearly state which regions are examined and for which conditions the scan is optimised”.[136]
-----------------------
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[36] Getting personal: the promise of cheap genome sequencing. The Economist. 16th April 2009.
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[39] WHO(2008) Closing the gap in a generation. Commission on Social Determinants of Health.
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[44] CfH (2008) Consultation on the wider use of patient information.
[45] House of Lords Science and Technology Committee (2009) Genomic Medicine. Volume I. 2nd Report of Session 2008-09.
[46] Lohr S (2009) A push for the wired patient’s bill of rights. New York Times Blogs. 22nd June 2009.
[47]
[48]
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[50] External Reference Group.
[51] MRC(2007) The use of personal health information in medical research. MRC/Ipsos MORI. 26 June 2007.
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[53] Kaye J (2006) Police collection and access to DNA samples. Genomics, Society and policy, 2(1), 16-27.
[54] See: .
[55] See: .
[56] See: .
[57] BBC News (2004) Internet pharmacies get go-ahead, available at: .
[58] FDA (2007) FDA Warns Consumers about Counterfeit Drugs from Multiple Internet Sellers, available at: .
[59] J Zarocostas (2009) Abuse of prescription drugs is second only to abuse of cannabis in US, UN drugs panel says BMJ 2009;338:b684.
[60] See, for example, European Commission (2008) Pharmaceutical Sector Inquiry – Preliminary Report, available at: .
[61] Directive 2001/83/EC on the Community code relating to medicinal products for human use, as amended.
[62]
[63] Department of Health (2005) Building Telecare in England (London: Department of Health), p.9.
[64] See: .
[65] See: .
[66] Furness P, Zimmern R, Wright C and Adams M (2008) The Evaluation of Diagnostic Laboratory Tests and Complex Biomarkers (London and Cambridge: Royal College of Pathologists and PHG Foundation), available at: file/3998/.
[67] Human Genetics Commission (2003) Genes Direct, available at: .
[68] Human Genetics Commission (2007) More Genes Direct, available at: .
[69] I.e. the requirement that such profiling should be shown to have benefits to the individual and be cost-effective.
[70] Wald NJ (2007) Screening: a step too far. A matter of concern J Med Screen 14: 163–4.
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[72] See: .
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[77] Maher B (2008) The case of the missing heritability. Nature, 456 (6), 18-21.
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[80] Janssens ACJW, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ (2008) A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions. The American Journal of Human Genetics 82, 593–599. (08)00145-6.
[81] GeneWatch UK evidence to the MHRA regarding genetic tests sold by the UK company Genetic Health. August 2007.
[82]
[83]
[84] Randerson J (2009) The day I had my genes tested. The Guardian. 9th December 2008.
[85] GeneWatch UK response to the MHRA consultation “Challenges and priorities for the next five years”. October 2007.
[86] .
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[88] 'Commercial Genetic Psychiatric Tests Are Irresponsible And Harmful, Say Scientists'. Medical News Today. 17th April 2009.
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[93] Diabetes Prevention Program Research Group (2002) Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin. The New England Journal of Medicine, 346(6), 393-403.
[94] Hofker M, Wijmenga C (2009) A supersized list of obesity genes. Nature Genetics, 41, 139-140.
[95] Johnson L, van Jaarsveld CHM, Emmett PM, Rogers IS, Ness AR, Hattersley AT, Timpson NJ, Davey Smith G, Jebb SA (2009) Dietary Energy Density Affects Fat Mass in Early Adolescence and Is Not Modified by FTO Variants. PLoS One. 4(3): e4594. doi:10.1371/journal.pone.0004594
[96] Meigs JB, Shrader P, Sullivan LM, McAteer JB, Fox CS, Dupuis J, Manning AK, Florez JC, Wilson PWF, D’Agostino RB, Cupples LA (2008) Genotype score in addition to common risk factors for prediction of Type 2 Diabetes. New England Journal of Medicine, 359, 2208-2219.
[97] SACN (2008) SACN statement on genetic testing. October 2008.
[98] Kraft P(2008) Curses – winner’s and otherwise – in genetic epidemiology. Epidemiology, 19(5), 649-651.
[99] Borry P, Howard HC, Sénécal K, Avard D (2009) Direct-to-consumer genome scanning services. Also for children? Nature Genetics, 10, 8.
[100] Singh I, Rose N (2009) Biomarkers in psychiatry. Nature, 460, 202-207.
[101] Council of Europe (2008) Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes. Brussels, Belgium, 2008. Available on:
[102] Wallace HM (2008b) Most gene test sales are misleading. Nature Biotechnology, 26(11), 1221.
[103] GeneWatch UK (2008) Response to the consultation on the Medical Devices Directives. Available on:
[104] Hogarth S, Melzer D (2007) The IVD Directive and genetic testing: problems and proposals. A briefing presented to the 20th meeting of Competent Authorities. Lisbon, July 2007.
[105]
[106] AHRQ(2009) Outcomes of genetic testing in adults with a history of venous thromboembolism. Evidence Report/Technology Assessment. Number 180.
[107] OECD (2007) OECD Guidelines for Quality Assurance in Molecular Genetic Testing.
[108] GeneWatch UK (2008) Submission to the House of Lords Science and Technology Committee’s Genomic Medicine Inquiry.
[109] See: .
[110] See: .
[111] Such as importing pre-existing electronic health records.
[112] Google (2008) About Google Health, available at: .
[113] Ibid.
[114] Microsoft (2008) What HealthVault can do for you, available at: .
[115] See: .
[116] House of Commons Health Select Committee (2007) The Electronic Patient Record – Sixth Report of Session 2006-2007 (London: The Stationery Office) p.18.
[117] Ibid., pp.18-19.
[118] Ibid., p.3.
[119] Committee on Medical Aspects of Radiation in the Environment (COMARE) (2007) Twelfth Report: The impact of personally initiated X-ray computed tomography scanning for the health assessment of asymptomatic individuals (Didcot: Health Protection Agency), p.7, available at: .
[120] National Institutes of Health (2007) What is Cardiac MRI?, available at: .
[121] J Walton, JA Barondess and S Lock (Editors) (1994) The Oxford Medical Companion (Oxford University Press: New York) p.477.
[122] As of April 2009. Note that the information summarised here is not intended to provide an exhaustive description. Prices cited here aim to reflect the range of relevant services available and are not comparable. For further information please see the relevant company’s websites.
[123] As of April 2009. Note that the information summarised here is not intended to provide an exhaustive description. Prices cited here aim to reflect the range of relevant services available and are not comparable. For further information please see the relevant company’s websites.
[124] Flemming N (2008) Rival genetic tests leave buyers confused The Times 07 September.
[125] Janssens ACJW, Gwinn M, Bradley LA, Oostra BA, van Diujn CM and Khoury MJ (2008) A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalise health interventions Am J Hum Gen 82: 593–9.
[126] Directive 98/79/EC.
[127] Human Genetics Commission (2007) More Genes Direct, p.11.
[128] Articles 1 and 2(a) Directive 98/79/EC.
[129] Human Genetics Commission (2007) More Genes Direct, p.16.
[130] Human Genetics Commission (2003) Genes Direct, p.23.
[131] The codes can be read in full at .
[132] Advertising Standards Authority Advertising Under Control, available at: .
[133] Ibid.
[134] Human Genetics Commission (2007) More Genes Direct, p.13.
[135] Wald NJ (2007) Screening: a step too far. A matter of concern J Med Screen 14: 163–4; Sense About Science (2008) Making sense of testing (London: Sense About Science).
[136] Committee on Medical Aspects of Radiation in the Environment (COMARE) (2007) Twelfth Report: The impact of personally initiated X-ray computed tomography scanning for the health assessment of asymptomatic individuals (Didcot: Health Protection Agency), pp.1–83, p.52.
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