Genomic Medicine - Science and Technology Committee Contents



6.1.  With the advance of genomic science and its application in both clinical and non-clinical settings, a range of ethical, social and legal issues have emerged.

6.2.  The 2003 Genetics White Paper dealt with a number of these issues and contained a commitment by the Government to engage with the public as a means of encouraging confidence in these new developments. Measures included:

  • efforts to support public understanding of genetics;
  • negotiation with the insurance industry of a moratorium on the use of genetic data;
  • a commitment to consider the issue of unfair discrimination based on genetic characteristics—a commitment underpinned by the principle that "no one should be unfairly discriminated against on the basis of his or her genetic characteristics";[24] and,
  • a commitment to ensure that the current regulatory framework anticipated public concerns about developments in genetic science.

Public engagement

6.3.  Public engagement is a vital element in achieving the full potential of genomic medicine. The Wellcome Trust told us that "continued support for public engagement activities will be crucial in order to ensure that patients are equipped to understand genetic risk information, and to foster a supportive public environment that allows the healthcare benefits of genomic medicine to be realised" (p 68). The Economic and Social Research Council Centre for Social and Economic Research on Innovation in Genomics (INNOGEN) suggested that there was an "increasingly important role for public consultation and engagement in informing … [policy] decisions" and that consideration needed to be given to issues concerning human rights, informed consent, ownership, accessibility and confidentiality (p 18).

6.4.  A number of bodies are charged with considering the ethical, legal and social implications of genomic medicine, each with a different role in engaging the public and improving public understanding. For example, the Human Genetics Commission (HGC), an independent advisory body to the Government, was set up in 1999 to look at the ethical, legal and social issues surrounding developments in human genetics and how they impact on individual lives. The Nuffield Council on Bioethics also examines ethical issues raised by new developments in biology and medicine. Both organisations include the promotion of debate amongst their activities.

6.5.  In 2002, the Government set up a national network of six Genetics Knowledge Parks, with initial Government funding for five years. Their purpose was "to bridge the understanding gaps that exist between scientists and healthcare professionals and the general public in relation to genetics" (Q 525). The concept underlying them was to create multi-disciplinary environments where clinicians and laboratory workers could meet teachers, lawyers, politicians, ethicists, industrialists, patient groups and the general public to explore the ways in which genetic technologies could best be deployed in healthcare settings. Although the British Society for Human Genetics (BSHG) criticised the Government for not continuing funding for the Parks—describing the decision as "short-sighted and damaging" (p 132)—the Government defended their position on the ground that the work which the Parks had begun was "continuing within the separate institutions and wider networks" through Best Research for Best Health, the National Genetics Education and Development Centre (NGEDC), Sciencewise (within the Department for Innovation, Universities and Skills (DIUS)) and the Economic and Social Research Centre (ESRC) Genomics Network (p 426).

6.6.  The BSHG and Oxford Nanopore suggested that it was the responsibility of the Government to promote public engagement. The BSHG recommended that the Government should "facilitate an adequately resourced programme of engagement between health professionals, policy makers and the public" to ensure transparency in genetic policymaking and public confidence (p 132). Oxford Nanopore argued that "the complex and controversial issues that surround genomic medicine warrant extensive debate which must be facilitated by Government" and welcomed Government support for the HGC to expand its work in this area (p 324).

6.7.  We welcome the public engagement activities that have been undertaken so far. We urge the Government and others to continue them, building on the successful dialogue models developed by Sciencewise. We have some concern, however, that these activities have focused primarily on public understanding of single-gene disorders. We urge the Government and other relevant bodies to extend the scope of their public engagement activities to include more detailed consideration of the implications of genetic tests for common complex diseases. To this end, we welcome the launch in October 2008 of a study by the Nuffield Council for Bioethics into the ethical issues raised by new technologies that involve more personalised healthcare. The study is due to report in 2010. We recommend in particular that the Human Genetics Commission should promote a wide-ranging debate on the ethical and social issues relating to genetic tests and gene associations for genetically complex diseases and how they contrast with genetic tests for single-gene disorders. The debate should aim to improve public understanding of genetic risk and predictive testing in common complex disorders.

6.8.  We recommend further that the Department of Health should establish a comprehensive and regularly updated public information web site which would review the most recent science on the genetics of common diseases, to help the public to understand and interpret results of genetic tests.

Ethical aspects particular to genomic research and medicine


6.9.  Central to the ethical debate on the implications of genetic science is the tension between, on the one hand, protecting individual privacy and preventing the misuse of personal data held on genetic databases and, on the other hand, achieving the beneficial potential of genetic science through researchers linking genetic and medical data in order to find associations between genes and disease. The Genetic Interest Group (GIG) added to this dichotomy of interest the public "disbenefit" of not conducting research: we need "an ethical and regulatory framework that not only [takes] account of the potential harms arising from doing genomic research, but also of the harms associated with not doing it—notably the balance that needs to be struck between individual risk and lost opportunities" (p 199).

Public benefit of data-sharing

6.10.  Both the 2006 report of the Academy of Medical Sciences (AMS), Personal Data for Public Good, and the 2002 report of the HGC, Inside Information: Balancing Interests in the Use of Personal Genetic Data, highlighted the public benefit of researchers using personal medical data. Based on a large-scale survey of public attitudes, the HGC report concluded that there was strong public support for research in human genetics and for the benefits which this research could bring, provided that appropriate consent was given to use and store the information on genetic databases.[25] Professor Sir John Bell drew our attention to the level of public support for UK Biobank: "Biobank had recruited a very large number of people by the time the disk from the Treasury with all the data of the 22 million women on child support got lost in the post or whatever happened. I immediately called and I said, 'Trouble coming. Let us watch the pace at which people pull out of this study because they will say we just cannot trust you guys.' We did not have a single person withdraw" (Q 471).

6.11.  In July 2008, Richard Thomas, the Information Commissioner, and Dr Sir Mark Walport published a report on data-sharing, the Data Sharing Review report, which recognised the importance of "sharing personal information for the purposes of research and statistical work" as "the third [most] important category of sharing" which "has produced benefits in almost all areas of life".[26] It was further noted that "the foundation of modern medicine is research [which] depends on the study of individuals and populations" and that research "depends on the use of aggregated personal data".[27]

6.12.  Given the public benefits of data-sharing, the question is how these benefits can be achieved without intruding upon individual privacy. The answer lies in part in the adequacy of the regulatory framework.


6.13.  In the UK, research on human subjects, including genetic research, is governed by a regulatory framework which seeks to protect personal information. It requires the informed consent of participants, research ethics committee approval and compliance with relevant legislation and conventions (for example, the EU Clinical Trials Directive and the regulations transposing the Directive into domestic law, the Human Tissue Act 2004 and the Human Tissue (Scotland) Act 2006, the European Convention on Human Rights, the Council of Europe Convention for the Protection of Individuals with regard to Automatic Processing of Personal Data, the EU Data Protection Directive and the UK Data Protection Act 1998).

6.14.  A number of witnesses, speaking from a researcher's perspective, were critical of the regulatory framework and in particular of the number of sources of regulation. The Association of Medical Research Charities said that it was "in danger of having a negative impact on research" and that it would "hamper progress in a number of areas by hindering the use of existing samples, lowering recruitment rates, and increasing the cost and complexity of studies" (p 472) (see Chapter 3). The 2006 AMS report, Personal Data for Public Good, highlighted the constraints on the use of personal health data, which arose through "confusing legislation and professional guidance, bureaucracy of process and an undue emphasis on privacy and autonomy".[28]

6.15.  Professor Collins of UK Biobank told us that "it is the bureaucratic obstacles to [the] linkage [of genetic datasets to medical records] that are the concerns" (Q 506) and that if he were able to make one recommendation to the Committee "it would be to remove the bureaucratic obstacles to using health records to improve the health of people in the UK" (Q 527). He told us that "the legislation is not clear [and that] it can be interpreted in a variety of different ways" (Q 507). Professor Andrew Morris, Chairman of the Generation Scotland Scientific Committee, also commented on the regulation governing a project such as Generation Scotland:

    "The Department of Health guidance suggests that this domain is affected by 43 relevant pieces of legislation. There were 12 sets of relevant standards and eight professional codes of conduct. What this has bred is a culture of caution, confusion, uncertainty and inconsistency ... so for us to interpret it and to have consistent interpretation from legal bodies who have data protection responsibilities is absolutely key. Currently this is the major issue in terms of the ability to safely link data in a way which is in the public good with appropriate security. This was a major focus of the [Data Sharing Review] report, which was broadly welcomed" (Q 507).

The Data Sharing Review report said: "the complexity of the law, amplified by a plethora of guidance, leaves those who may wish to share data in a fog of confusion".[29]

6.16.  We were struck by the weight of evidence about the difficulties arising from the bureaucratic burden imposed by the current regulatory framework. Our recommendations in this chapter are intended to meet these concerns and to reduce this bureaucratic burden.


6.17.  Sharing genetic data of individuals must be regulated because they are personal data and are therefore subject to the demand for protection of personal privacy. Given that the identity of a patient will usually[30] be irrelevant to a researcher—the researcher will usually simply wish to link genetic data from patient A with medical data on patient A to associate some other variable with genetic factors—it would appear that the fundamental tension created by genetic data sharing could be resolved by anonymising the data. Put simply, this could be achieved by linking data from a patient in two separate databases with personal identifiers replaced by a code, the encryption for which would be held by a third party.

6.18.  But the issue of anonymising data is more complicated than that. There are different forms of anonymising, some more helpful to researchers than others. If, say for example, there were a requirement to "de-link" or "de-identify" personal data, that is severing all links that make it possible to link them to other data from the same person, then a great many sorts of research into genetic associations would be impossible. Confusingly, as the Data Sharing Review report indicates, what counts as legally acceptable levels of anonymisation remains unclear.

6.19.  A difficulty in designing an appropriate anonymisation mechanism was brought recently to the fore by the development of new methods for analysing genomic databases. An article published on 28 August 2008 in the Public Library of Science Genetics Journal suggested that an individual's inclusion within a cohort of anonymised genetic profiles may be identified by those with access to his or her genomic profile, even if that profile were only present in summary format amongst those of hundreds of other individuals (although it would only be possible to identify an individual from such a database if one had prior knowledge of the individual's genetic profile).[31] A consequence of the new method of analysis is that several DNA databases run by the US National Institutes of Health, the Wellcome Trust and the Broad Institute in Massachusetts have taken the precaution of ending public access to genomic databases.[32] UK Biobank also told us that they would not be putting scientific data into the public domain but would make it "available only to researchers under strict control" (Q 521). These examples highlight the need for clarity with regard to issues associated with anonymisation of data.


6.20.  UK Biobank and Generation Scotland are examples of "prospective" studies, where the consent of volunteers, who are carefully informed, is given in broad terms for projects which collect information that may be used in research that is only envisaged or undertaken many years later (see paragraph 6.24 below).

6.21.  Different considerations apply to the use of data collected from patients in the NHS, where there will be uncertainty about the specific purposes for which information might be used in the future. Arguably, this could mean that some patients will have insufficient information to enable them to make an adequately informed choice when consenting to the use of their personal data. This issue was raised by the Information Commissioner. Professor Collins commented that "it is impossible to counsel people on what the implications will be of things we might do in 15 or 20 years time, or, indeed, what the relevance of the things that we find might be" (Q 516).

6.22.  Other jurisdictions have used different approaches to this problem. For example, Denmark uses a system of broad consent and aims to promote legitimate research using genetic data on the basis of an "opt-out" system. Dr Birney told us that Denmark "has an opt-out system, not an opt-in system" whereby it is assumed that an individual wishes to consent unless he or she says otherwise. "Some of the researchers in Denmark have access to very broad population study data and seemingly the Danish population is happy with that … Many people have the desire in that context to give very broad consents in the context of research, of course, as long as the data is only being used for research and as long as it is secure" (Q 708).


6.23.  Recommendation 15 of the Data Sharing Review called for the development of "safe havens" to provide an environment for population-based research and statistical analysis by researchers who had been approved or accredited to work in those environments, whilst safeguarding the privacy of individuals. In response to the Data Sharing Review, the Department of Health (DoH) made a commitment to develop such a scheme through the Research Capability Programme, working with the Information Centre for Health and Social Care. The DoH also made a commitment to determine principles to enable the use of information derived from care records alongside other datasets under conditions that would protect identifiable personal and confidential information.

6.24.  UK Biobank is a database that contains anonymised biological samples and medical and lifestyle information (that is, a collection of samples and information that are held in uninterpreted form). Volunteers give their consent after being informed about the range of uses to which the information collected, including genetic information, may be put and can withdraw from the Biobank studies at any time. Only accredited researchers may have access to information from the database. They may apply for access to specific types of anonymised information or samples, subject to review by the relevant Research Ethics Committee. According to the Wellcome Trust Sanger Institute, "the UK Biobank initiative has set a gold standard for ethical principles and guidelines concerning the large population studies" (p 333).

6.25.  When developing the "safe havens" for research, recommended by the Data Sharing Review report, we encourage the Department of Health to consider adapting the approach developed by UK Biobank for ensuring the protection of personal privacy as an exemplar.


6.26.  We agree with the Information Commissioner that "organisations must ensure that robust safeguards are in place so that individuals enjoy a proper level of privacy and data protection and their personal genetic information is handled in a way that inspires trust" (p 547). This is fundamental if the public is to be encouraged to participate in genetic research. However, we question whether the correct balance between the protection of individual privacy and enabling data-sharing for the purposes of legitimate scientific research and patient benefit has been achieved. Part of the problem appears to derive from the application of DPA 1998. We note, for example, the conclusion of the Data Sharing Review report:

    "A significant problem is that the Data Protection Act fails to provide clarity over whether personal information may or may not be shared. The Act is often misunderstood and considerable confusion surrounds the wider legal framework—in particular, the interplay between the DPA and other domestic and international strands of law relating to personal information. Misunderstandings and confusion persist even among people who regularly process personal information; and the specific legal provisions that allow data to be shared are similarly unclear" (paragraph 8.21).

6.27.  The Data Sharing Review report further suggested (in Recommendation 7(a) of the report) that a statutory duty should be put on the Information Commissioner to publish (after consultation) a data-sharing code of practice to remove "the fog of confusion"—which should include sector specific instructions where necessary. It also recommended (Recommendation 8(a)) that where there was a genuine case for removing or modifying an existing legal barrier to data sharing, "a new statutory fast-track procedure should be created". We support these recommendations.

6.28.  Further, we urge the Information Commissioner to publish a set of clear, feasible and proportionate guidelines, in accordance with the Data Protection Act 1998, specifically for researchers handling genetic data for the purposes of non-personal research in order to reduce the burden of data protection legislation on researchers.

6.29.  The Data Protection Act 1998 is "tightly tied" to the EU Directive on the protection of personal data. The Data Sharing Review report recommended (Recommendation 6) strongly that, due to the need for clarity over when data-sharing is appropriate under the Data Protection Act 1998, although change may be a long way off, the Government should participate "actively and constructively in current and prospective reviews of the European Directive, and assume a leadership role in promoting the reform of European data law". We agree.

6.30.  We recommend that, meanwhile, the Government should seek to amend the Data Protection Act 1998 where possible (including amendments to bring into effect the recommendation in paragraph 6.28 above) so as to facilitate the conduct of non-personal research using genetic data.

Use of genetic information for insurance and employment purposes—genetic discrimination

6.31.  In May 2008, the United States Congress passed the Genetic Information Non-discrimination Act (GINA). The purpose of GINA is to protect American citizens against genetic discrimination in health insurance and employment. Other countries, including France, Sweden and Finland, have also legislated against forms of genetic discrimination. In addition, the Council of Europe Convention on Human Rights and Biomedicine (Chapter IV, Article 11) prohibits any form of discrimination against a person on grounds of genetic heritage.[33] At present the UK is not a signatory to the Convention, although the HGC has recommended that the Government should take steps towards becoming one.

6.32.  In the UK, discrimination in employment on the ground of any manifest genetic condition is regulated by laws with broader scope, in particular by the Disability Discrimination Act (DDA) 1995. A number of other statutes—the Human Tissue Act 2004, the DPA 1998, the Human Rights Act 1998—may also apply in certain circumstances. None the less, we received evidence in which concerns were raised about the risk of genetic discrimination in employment or for insurance purposes because of supposed gaps in the current legislation. Mr Michael Harrison, a barrister specialising in clinical negligence and member of the HGC, reviewed the scope of these various pieces of legislation and considered whether they provided a satisfactory alternative to consolidated, genetic discrimination legislation. He concluded that they "may cover many situations" but they are "unlikely to cover all of them", stressing, for example, that the DDA 1995 would only cover genetic conditions once they had caused a manifest functional disability. "Late onset" genetic conditions would not therefore be covered until that time (Q 620). We note however that insurers typically already have access to information about such disorders in the form of medical information and family history and, at present, genetic tests for such conditions are not considered to be accurate enough to be used by the industry.

6.33.  Mr Harrison suggested that there should be a statutory provision to the effect that "the default setting is that genetic discrimination would be unlawful, but that [if] a defence is provided for someone who seeks to treat a person differently on the basis of a genetic difference, they have to justify that differential treatment" (Q 620).

6.34.  Mr Harrison further suggested that this statutory provision should be included in the single Equality Bill (currently before Parliament). In 2007, the Government published a consultation document entitled A Framework for Fairness: Proposals for a Single Equality Bill for Great Britain. The consultation asked, "Do you agree that there is no current justification for legislating to prohibit genetic predisposition discrimination?" Over 4,000 responses were received of which around 60 per cent said that legislation was needed. The HGC also responded in support of genetic discrimination being recognised explicitly in anti-discrimination legislation, in particular the single Equality Bill (p 161). On the basis of an email survey, the HGC believed that such discrimination was taking place.[34]

6.35.  In October 2008, the Government announced that, following their consultation, they did not intend to introduce specific statutory protection against discrimination on grounds of genetic predisposition given the safeguards in an established Concordat with the Insurance Industry on the use of genetic tests for insurance purposes (see paragraph 6.42 below). At that time, they proposed instead to continue with the present system of monitoring by the HGC and the Genetics and Insurance Committee (GAIC). The Minister, Ms Primarolo MP, has since told us, however, that the DoH propose to disband GAIC (see paragraph 6.48 below).


6.36.  Genetic conditions may have considerable bearing on an individual's capacity for employment. Where a condition is already manifest, information about the condition and its effects will be known through ordinary medical assessments. New genetic tests, on the other hand, provide information about "late onset" conditions which are not yet apparent. But we have heard that these genetic tests do not predict when the disease will develop or its severity. So while information obtained through genetic tests is useful for medical purposes, it is, according to the Information Commissioner, "too intrusive and the information's predictive value is insufficiently certain to be relied on to provide information about a worker's future health".[35]

6.37.  In 2006, the HGC conducted a survey from which they concluded that "there was no significant evidence of genetic testing occurring in the workplace" (p 430); in contrast, an earlier survey of companies, in 2000, conducted by the Institute of Directors, had found that "50 per cent of respondents were in favour of using genetic tests to identify workers who were at risk from occupational hazards" (p 302). There is therefore a need to continue to monitor the situation. Sarah Veale of the TUC gave an example of why employers would want to use genetic tests: "if you ensure that you do not have any employees who are susceptible to particular, say, types of chemical use, it is rather cheaper than preventing the use of the chemicals in the first place" (Q 619). Also, employers would benefit from excluding a worker who "is predicted to need considerable time off due to ill health" (p 302). The TUC supported a law against genetic discrimination.

6.38.  Other witnesses cautioned against creating "genetic exceptionalism" by making genetics a special case within discrimination and data protection laws. They also questioned whether it would be possible legally to define genetic discrimination. For example, the Foundation for Genomics and Population health ("the PHG Foundation") described calls to outlaw genetic discrimination as "misguided as it will not be possible to arrive at a consistent legal definition and such legislation would unfairly privilege DNA-based information over other types of information that may be equally or more predictive" (p 136).

6.39.  We are not persuaded that there is sufficient evidence at this stage to warrant legislation against genetic discrimination in the workplace; added to which, the uncertain predictive value of tests for common complex disorders means that the information derived from them would be of little value in the employment context. We are also mindful of the fact that the US legislation, GINA, was passed because of links between employment and health insurance in the US which are not present in the UK because of the provision of free healthcare through the NHS.

6.40.  We do not believe that at present there should be specific legislation against genetic discrimination, either in the workplace or generally. But rapid advances in genetic science mean that there is a continuing need to monitor the situation. This should be undertaken by a designated body, possibly the Human Genetics Commission.


6.41.  Insurance companies fear "adverse selection"—where high risk individuals, if not required to disclose the results of a genetic test, may insure themselves at unfairly low rates which could in turn have a disproportionate negative effect on the insurance market leading to higher premiums for everyone.

6.42.  In 1999, an agreement was reached on a system of voluntary regulation. The Government set up the Genetics and Insurance Committee (GAIC); and the Association of British Insurers (ABI) published a Code of Conduct which was intended to be observed by all its members and which imposed a moratorium on the use of genetic tests for insurance purposes unless there was demonstrable evidence that they were actuarially significant. The moratorium has been revised and extended three times: in 2001, 2005 and 2008 (extended to 2014). The next review is due in 2011. In 2005 a Concordat between the Government and the ABI was incorporated into the moratorium. Under the Concordat companies are able to ask for the results of a predictive genetic test already undertaken by an individual only "if it has been approved by GAIC and if the policy is for more than £500k of life cover or £300k for other types of insurance" (p 430). Only one test is currently allowed—for Huntington's disease for life insurance policies over £500k (p 431). Under the terms of the moratorium, insurers agree not to request individuals to undertake predictive genetic tests in order to obtain life insurance. GAIC told us that they had received only three legitimate complaints since 2004 about the use of genetic tests for insurance purposes, none of which concerned predictive genetic tests.

6.43.  In 2007, 132 insurance applicants disclosed test results for Huntington's disease, representing an increase of four per cent from 2006. Of those, 108 were normal (negative), 19 were adverse (positive) and five were ambiguous. Three of the applicants with adverse test results were declined insurance, two were accepted at ordinary rates and the rest were accepted with increased premiums or revised terms. Five of the applicants with normal test results were declined insurance, 66 were accepted at ordinary rates, seven did not complete the application and the rest were accepted with increased premiums or revised terms.[36]

6.44.  According to GAIC, "whilst we have the moratorium in place, this is probably sufficient", although Professor David Johns, Chairman of GAIC, said that he was aware that this was "very temporary [and] … only a partial solution" (Q 578) and that "people are very, very naturally concerned that somehow the insurance industry may say, 'No moratorium and we are looking backwards'" (Q 587). As Chairman of GAIC, he spoke to patient groups and heard "their concerns" about the retrospective use of test results (Q 588). Other witnesses made a similar point. Dr Helen Wallace, Executive Director of GeneWatch UK, for example, referring to predictive testing for breast cancer genes, told us about "the issue of 'test now, buy later'"—"There are women deciding whether to take the test now who do not know if they buy insurance later on in their lives whether at that point the moratorium will have ended and there will be a requirement from the insurance industry to see the results … Women do worry about the future insurance implications when they consider whether or not to take a test, so you have a specific circumstance where the medical decision that you take may be influenced by knowing whether or not the insurance industry will have access" (Q 361).

6.45.  In the 2003 Genetics White Paper, the Government made a commitment to work with patient groups and with the industry to ensure a longer-term solution. The Minister for Public Health, Ms Primarolo MP, told us that if the "sunset clause" of the moratorium inadvertently gave an indication that genetic test results might become available at a later state, this would need to be addressed (Q 900).

6.46.  Stephen Haddrill of the ABI felt that the moratorium was appropriate for current circumstances, although he would not "rule out legislation forever if the circumstances justified it" (Q 580). There were, however, downsides to legislation for the consumer: "legislation does not necessarily work to the benefit of the customer because it may create a kind of unfair level playing field" (Q 580). Currently, an individual can declare the negative results of a genetic test. This may have the effect of reducing premiums which could otherwise have been loaded by family history alone. If information from genetic test results had to be excluded altogether as a loading factor in calculating premiums, individuals might on occasions lose out.

6.47.  Although we have concluded against specific legislation against genetic discrimination, we accept that action needs be taken to address a concern that the "sunset clause" of the insurance moratorium may deter individuals from taking genetic tests for fear of not being able to purchase adequate insurance cover after 2014. We recommend therefore that the Government should negotiate with the Association of British Insurers a new clause in the Code of Practice, Moratorium and Concordat on Genetic Testing and Insurance that prevents insurers from asking for the results of genetic tests which were carried out while the Moratorium was in place.

6.48.  We recommend that the Government, together with the Association of British Insurers, should establish a longer-term agreement about the use of genetic test results for insurance purposes. The moratorium is next due to be revised in 2011. This would provide a good opportunity to take this recommendation further.

6.49.  We were recently informed in a letter from Ms Primarolo to the Committee dated 28 April (p 463) that the DoH have decided to disband GAIC, to reassess how to address genetics and insurance in the future and to put in place alternative arrangements.

6.50.  Given that the Genetics and Insurance Committee is to be disbanded, we recommend further that the Government should put in place arrangements for monitoring the use of genetic tests for insurance purposes. These arrangements should be part of the longer-term agreement on the use of genetic testing in insurance envisaged in paragraph 6.48 above.

Direct to Consumer Tests (DCTs)


6.51.  When using DCTs, the usual arrangement is that an individual provides a saliva sample using a home test kit and a few weeks later the genetic test results are delivered back, often electronically. DCTs are used to test for various genetic features. Some focus on the "social" aspect of genetic testing, such as information about ancestry, while others promote the idea of empowering individuals to take control of their health by learning about their susceptibility to common diseases such as heart disease, diabetes and cancer. Witnesses held wide-ranging views about the value of DCTs.

6.52.  Professor Bobrow commented on DCTs:

    "If you look at things like deCODEme and the 23andMe website, a lot of their emphasis is on doing your genome so that you can go and find out whether some chap you have met is your second cousin and other things of that nature. It is scientifically valid, it is medically irrelevant and I think it is very much a question of if you want to blow £1,000 on that, it is your business" (Q 260).

6.53.  Dr Ron Zimmern, Executive Director of the PHG Foundation, thought that that companies should not be prevented from selling DCTs and said that he could "see nothing in a free society to suggest that we should stop people from knowing that they have a two per cent higher risk of asthma or a four per cent lower risk of heart disease". But, he believed that the type of data derived from DCTs was "totally useless information" (Q 256).

6.54.  Dr Bale told us that "many of the companies that provide over-the-counter services or direct-to-the-public services steer very well clear of the single-gene, highly penetrative disorders, those that may have a dramatic impact on a person's health. They look to provide a service which focuses on the weaker associations that might help people to adopt a better diet or maybe to consider the most effective way of stopping smoking or losing weight" (Q 107).

6.55.  Professor Donnelly spoke positively about DCTs and suggested that they might be the best way to ensure that technology develops to a point where it becomes useful for public healthcare. They would also be beneficial for the small number of individuals who had a high risk of developing a disease due to the additive effects of having several low risk gene markers. He thought that DCTs were the first step to a service that would eventually be incorporated into routine clinical practice. He said:

    "There is a possibility … for people to be able to say, 'there's a whole range of diseases, I know from my genetics that [for] two or three [diseases] I am [at] particular high risk, let me focus on the lifestyle changes which will make a difference to those'. That is the upside and it could have non-trivial consequences in terms of prevention … In the short term I think the main way in which that information will get to individuals is through the commercial organisations who are offering direct to consumer testing … Over the long term the picture is clear. It is hard to predict the timescale of this but I think we would all guess that at some time in the future—which might be ten years or more—genetic information will be a routine part of many aspects of medical care" (Q 134).


6.56.  Some witnesses highlighted their concerns about the consequences of the limited predictive value of DCTs and the inaccuracy on occasions of the advice given to the public. For example, according to Dr Wallace, some companies made claims about future health "which are not substantiated by the scientific evidence"; and she referred to the absence of a "routine system for analysing the clinical utility or validity of the tests" (Q 344).

6.57.  There is also a worry about the format in which results are delivered. In most cases results are delivered via the Internet. They are therefore received without the supervision of a health professional who would be able put the results in context and offer advice. This could result in unnecessary anxiety and unnecessary further conventional tests. Given that tests for genetically complex diseases cannot be used as a basis for accurate prediction of an individual's risk of disease, the likely inability of an individual to understand fully the implications of test results in these circumstances, particularly if these are not supported by genetic counselling and advice, is worrying.

6.58.  Dr Wallace went as far as suggesting that "there is a case for a ban on offering tests directly to the public without medical support" (Q 349) although Alistair Kent, Director of GIG, thought that a ban risked creating "a black market of people operating from unregulated territories" (Q 349). Dr Flinter warned of the implications for the NHS: individuals "take those tests, they are then confused, they may be falsely reassured, they may be falsely worried, they then go and see their GP and the NHS has to try and pick up the pieces" (Q 307). This need for advice has implications for the training of medical students and existing primary care doctors (see Chapter 7).

6.59.  Of particular concern are reports of companies offering DCTs that purport to be of diagnostic value in certain psychiatric disorders (Q 350), despite, as the ERSC Genomics Network CESAGEN pointed out, the fact that "providing individuals with the likely risk of developing psychiatric disorders is not straightforward, and may not account for the complex interaction of genetic and environmental factors" (p 29).

6.60.  Recent OECD (Organisation for Economic Co-operation and Development) guidelines recommend that informed consent should be sought prior to customers purchasing a DCT and that genetic counselling should be available prior to, and after, testing.[37] Such counselling should be appropriate to the characteristics of the test including its limitations, the potential for harm and the relevance of test results to individuals and their families.

6.61.  The PHG Foundation and other witnesses suggested that it was possible for companies to be transparent about their work and to provide the public with more evidence on the accuracy of such DCTs. For example, they could place information about the clinical validity and utility of commercially available genetic tests in the public domain, including documentation of the standards to which a laboratory complies, the scientific basis of any tests offered and any consideration of ethical, social or legal issues. This would ensure that consumers could make an informed decision about the value of the test.


6.62.  A number of press reports have recently highlighted the shortcomings of DCTs, including variations between companies as to the interpretation of individual test results. The HGC warned of the risk that DCT providers might "undermine the credibility of genomic medicine, by making inflated or misleading claims in marketing their products" (p 163). But, as most of the companies that offer DCTs are based abroad, the Advertising Standards Agency "has no remit to regulate claims made by companies on their own websites" (p 469).


6.63.  There are no regulations in the UK governing the sale of DCTs. The EU has limited regulation of DCTs under the In Vitro Medical Devices Diagnostic Directive but this extends to regulation of the test kits sent to the customer to produce the saliva sample and, in most cases, not to the tests themselves or to the interpretation of the results. Importantly, under the Directive, genetic tests are classified as being of "low risk" and DCTs are therefore not subject to pre-market assessment. The re-classification of such tests is currently being considered by the European Commission and, in paragraph 3.41 above we have called for them to be re-designated as "medium risk" (see Chapter 3).

6.64.  Some witnesses favoured a mandatory regulatory code for DCTs, with a requirement to provide medical advice to consumers when delivering test results. In May 2008, the Council of Europe approved the final version of an Additional Protocol to the Convention on Human Rights and Biomedicine on Genetic Testing for Health Purposes: "the Protocol reinforces the OECD Guidelines for Quality Assurance in Genetic Testing, and includes further provisions on clinical utility, medical supervision and genetic counselling. Extensive consideration is given to issues related to consent, and genetic screening programmes have also been addressed".[38]

6.65.  In contrast, in June 2008, the HGC hosted a seminar on DCTs the purpose of which was to explore the merit of a voluntary code of practice in the UK and develop guidelines on good practice and ethical conduct for companies providing DCTs. Dr Flinter reported that "there was pretty general agreement that a code of practice would be helpful; particularly the companies that are providing these tests felt that at the moment it was very unclear to them what the framework was in this country, what the rules and regulations were, and they said that they would welcome a code of practice" (Q 306). Following the seminar, the HGC undertook to develop a draft code.

6.66.  We favour a voluntary code of practice. It would, we believe, offer safeguards for the consumer by encouraging test providers to be open about the limitations of the tests offered, enabling consumers to make an informed decision about purchasing DCTs. We support the Human Genetics Commission's work on developing, with the industry, a voluntary code of practice for selling genetic tests directly to consumers. The code should include a requirement for companies to place in the public domain information about the standards adhered to and the national accreditation status of the company's laboratory, and the clinical validity and utility of the tests offered. The code should also include guidelines for provision of appropriate pre- and post-test counselling and an ethical code of conduct for the sale of such tests.

6.67.  Further to our recommendation in paragraph 6.8 above, we recommend that the proposed Department of Health web site should set out the following:

  • up-to-date information on the national or international accreditation schemes with which the "direct to consumer" test (DCT) laboratories are registered, including the laboratories' registration status;
  • the quality assurance schemes in which these laboratories participate; and
  • the extent to which the DNA sequence variants used by DCTs for predicting risk of future disease have been validated in genome-wide association studies, and shown in prospective trials to have utility for predictive genetic testing.

24   This principle was demonstrated by the inclusion in the Human Tissue Act 2004 of a provision making it an offence to test a person's DNA without his or her knowledge or consent. Back

25   Human Genetics Commission, Inside Information: Balancing Interests in the Use of Personal Genetic Data, 2002, p 7.  Back

26   Richard Thomas and Mark Walport, Data Sharing Review, 11 July 2008, para 2.28. Back

27   Ibid, para 2.31. Back

28   Academy of Medical Sciences, Personal Data for Public Good: using health information in medical research, 2006, p 3. Back

29   Richard Thomas and Mark Walport, op cit, p i. Back

30   We acknowledge that, in some circumstances, researchers may need access to patient identification details, for example to collect samples from research subjects and their family members, or to identify and invite relevant people to take part in clinical trials. We have not addressed issues raised in these circumstances in this report. Back

31   Homer et al 2008, "Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays", PLoS Genet 4:e1000167. Back

32   "DNA databases shut after identities compromised", Nature, vol 455, 4 September 2008, p 13. Back

33 Back

34   HGC response to the Discrimination Law Review consultation, A Framework for Fairness: Proposals for a Single Equality Bill for Great Britain (14 September 2007). Back

35   Information Commissioner's Employment Practices Data Protection Code under the DPA 1998. .


37   OECD Guidelines for Quality Assurance in Molecular Genetic Testing, 2007, p 13. Back


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