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CHAPTER 4: THE ETHICAL CONTEXT AND THE IMPORTANCE OF PUBLIC AND PATIENT AWARENESS AND ENGAGEMENT

Introduction

Many developments in genetics are associated with important ethical and societal issues, which may often be controversial. This is especially so in relation to recent developments in the field of reproductive technology such as cloning, and prenatal and preimplantation genetic diagnosis. These issues have been subjected to much recent academic and media scrutiny, and are an area where some new, and potential interventions may be considered to be on the boundary of what is socially and ethically acceptable at present.

Past eugenic abuses have left a legacy of suspicion. This legacy and a public that is understandably apprehensive, can make the presentation of new developments in genetics, many of which will create new ethical and social challenges, difficult. Yet, genetics will come to play an increasingly prominent role in the delivery of healthcare across all clinical specialties and for the full benefits of developments in human genetics to be realised, it will require public acceptance and public confidence. It is vital, therefore, that both new developments and current practice in medical genetics are accompanied by visible and appropriate ethical and public debate.

Fundamental to this is a greater public understanding of genetics, of both the benefits and of the issues that can be raised. Enhancing public awareness and knowledge about genetics is, therefore, an important area. It will be key to facilitating open and informed discussion of emerging questions, which may need to be addressed both socially and individually. It will be needed to enable the development of genuine dialogue on genetics issues and will play a key role in aiding informed public debate about, and understanding of, genetic research projects the success of which will depend on the altruism of individuals who are invited to participate. An adequate knowledge base will also be a pre-requisite to enable patients to give informed consent to medical or pharmaceutical interventions, or when invited to take part in screening programmes.

Public Awareness and Engagement

From the outset of their deliberations, the Review Group recognised the extreme importance of ensuring that adequate attention was paid to the issues of public awareness and engagement.

In order to enable the Review Group to consider how this issue could best be addressed in Scotland, discussions were held with a number of individuals with involvement and interests in this area.

Current Situation in Scotland

What was clear from our exploratory work was that there is a great deal of relevant activity currently taking place across Scotland. Not only is there an active research agenda in social science, ethics and law, but there are numerous examples of projects aimed at either sharing scientific knowledge with lay audiences or at engaging the public in dialogue and debate. Current research effort in this field involves individuals from many diverse disciplines, e.g. sociology, law, ethics, medicine, education, nursing, industry etc. Their research portfolios address a wide range of issues including perceptions of genetics by different groups, and the way that such understanding impacts on health service users' expectations and experiences. In the course of our discussions we became aware that many such individuals in Scotland are working in isolation on these topics, though within broadly based organisations.

As a consequence of the far reaching implications of the rapid developments in genetic science, the Economic and Social Research Council ( ESRC) has over the last few years made a considerable investment in this area. It has funded an ESRC Genomics Network, five centres across the UK studying the evolution of genomics and life sciences and their far-reaching social and economic implications. Two of these centres (Innogen and the Genomics Policy and Research Forum) are based in Scotland and are hosted within the University of Edinburgh. The other three are in the Universities of Lancaster, Exeter and Surrey. Innogen, is the ESRC Centre for Social and Economic Research on Innovation in Genomics, and works in collaboration with the Open University. The staff of Innogen include social scientists, economists and lawyers, who will engage with a wide range of stakeholders including citizens and public interest groups. The recently established Genomics Policy and Research Forum, which will be discussed further below, has a particular responsibility to ensure that the work of the ESRC Network is taken up and used.

There are a number of science communication programmes already in existence in Scotland. These address issues in genetics, often as part of a complex mix of topics. Examples include the Annual Science Festival in Edinburgh and the programmes of the science centres in Glasgow, Dundee and Aberdeen as well as the Royal Society in Edinburgh.

A strategic research development grant from the Scottish Higher Education Funding Council, led to the establishment of the Genetics Health in the 21 ^st Century Initiative (21 CGH). One of the objectives of this initiative is to address public awareness and engagement through one of the component themes ethical, legal and social issues - sharing knowledge and engaging citizens. Within this context a programme of activities will be taken forward which will include consultation and dialogue with members of the public and scientists, and exploring ways in which public engagement can be promoted such as citizens panels and juries. This programme of work will be based in the ESRC Innogen Unit, at Edinburgh University.

The importance of addressing public awareness and engagement was also highlighted in the guidance for applicants for the Scottish Executive (Chief Scientist Office and Enterprise, Transport and Life Long Learning Department) funded Genetics Healthcare Initiative ( GHI) announced in December 2004, which we discuss later in this Report. Because of the pan-Scotland collaborative nature of this initiative any public engagement activity funded from this source will be designed to be complementary to that of 21 CGH.

An extensive public engagement exercise is led by individuals in the University of Dundee, in collaboration with colleagues in the Information Services Directorate ( ISD) of NHS National Services Scotland. Again those involved in this initiative are working closely with their colleagues in ESRC Innogen in order to closely coordinate their activities.

Proposed Way Forward in Relation to Public Awareness and Engagement

Given the extent and range of the activity currently underway in Scotland that our enquiries identified, the Review Group do not feel there is a need to recommend the development of new initiatives in this area. Rather, we consider that the most fruitful way forward in the short-term, would be to seek the development of a mechanism for 'pulling together' and coordinating the effort already in place. In time such a mechanism will also lead to the identification of 'gaps' which could be addressed by the development of future research proposals or initiatives.

As a result of our discussions, the Review Group recommend that the Scottish Executive seek the establishment of a formal, funded network, which would not only link together all those from a variety of backgrounds who have an interest in enhancing public engagement with genomics, but that would in particular provide a means of bringing together all those in social science and the humanities around Scotland who are working in this area.

Such a network would provide a forum which could enable:

• Dialogue with policy makers.
• Dialogue and debate with the public.
• Informing those charged with producing and delivering health related information and materials in Scotland, such as NHS Health Scotland and the Scottish Consumer Council.
• Facilitate knowledge exchange between social scientists involved in this area and also between them and those from other relevant disciplines.
• Provide a point of liaison and communication with those designing and delivering genetics education within the range of educational institutions in Scotland from schools through to higher education.
• Be the custodian of a database which records information on current research activity in the field across Scotland, which would facilitate coordination and prevent duplication of effort.

It is recognised that in order for such a network to be effective, there are a number of important considerations that must be addressed:

• The functions of the network and the boundaries should be clearly delineated at the start.
• The purpose and mechanisms of action of the network must be totally transparent in order to avoid any misinterpretation of its motives.
• There should be a wide spread of members from across the field in order to make the network an effective and meaningful resource for consultation purposes.
• It would be important to encourage commercial sector involvement so that they can be part of the debate and also be aware of the outcomes of social science and humanities research in this area, which may influence their practice.

In order to function effectively and achieve its objectives, the network will require to be adequately resourced. The successful Stem Cell Network could be used as a model for such a development.

A preliminary estimate of the resources that would be required, which are based on the costs of running the Scottish Stem Cell Network, can be found in Appendix 3. These could be in the order of £150K a year.

To ensure appropriate and cost effective use of any funding made available, it would be essential for specific objectives and deliverables to be agreed before commencement of the project and for an appropriate and robust evaluation mechanism to be established.

The Group considered that it was necessary to identify an appropriate organisation to host the network and to provide office accommodation. Two potential bases for the network were explored:

• The Scottish Scientific Advisory Committee which functions under the aegis of the Royal Society of Edinburgh.
• The ESRC Genomics Policy and Research Forum.

The newly established Genomics Policy and Research Forum has been awarded to the University of Edinburgh by the UKESRC, with additional funding from the Scottish Higher Educational Funding Council.

The Forum is the most recent addition to the ESRC's Genomics Network. The Network represents a very significant investment by the ESRC and has been established to undertake a systematic, critical and technically informed analysis of the present and future economic and social trajectory of genomic science and its applications; the Forum has a particular responsibility to ensure that the work of the Network is taken up and used, nationally and internationally, especially in policy making. They will have interests across the life sciences, including of course, in genetics and its application. Facilitating engagement between scientists, social scientists, industry and policy makers (including in that the public) is regarded to be 'core business' for them.

The Review Group considered that from the information they received, the new ESRC Unit had been set up with a remit which made it ideally suited to host the proposed network. They, therefore, favoured the latter option, rather than adding to the already wide-ranging and very full agenda of the Scottish Science Advisory Committee.

We understand that the Director of the new Unit and the ESRC are supportive of the proposals and would welcome the opportunity for this organisation to host the network.

The Review Group therefore recommend that:

• the SEHD should seek the establishment of a formal Network in Scotland (as previously discussed) under the aegis of the ESRC Genomics Policy and Research Forum to coordinate and facilitate activity in the important area of public engagement in genetics.
• that appropriate resources should be identified by the SEHD for the establishment and running costs of the Network. The successful Stem Cell Network could be used as a model for such a development, and as a basis for assessing the resource requirements. A summary of these estimates can be found in Appendix 3.

The possibility of additional support from other funding bodies such as the Welcome Trust should be explored by the host organisation as the Network is established.

Ethical and Regulatory Context

To aid public confidence both new developments and current practice in medical genetics should not only be accompanied by visible and appropriate ethical and public debate, but they should also be delivered in line with carefully considered ethical guidelines and within an appropriate policy and legislative framework.

Policy development and legislative competence in this area are matters reserved to Westminster and thus set at UK level. For this reason, although the Review Group fully acknowledged the importance of this area, the various issues will not be dealt with in great detail in this report.

The two main bodies providing advice to Government, and regulation, in this area are the Human Genetics Commission ( HGC) and the Human Fertilisation and Embryology Authority ( HFEA). The HGC is an independent UK body set up to provide expert advice on developments in human genetics and the social and ethical issues raised. All four countries of the UK are represented on the HGC through the membership of their Chief Medical Officer. The HGC, and the preceding committees which were subsumed within it (such as the Advisory Committee on Genetic Testing), have published reports on a number of important issues with ethical implications including, the handling and storage of genetic information (Inside Information) ⁴, genetic testing offered direct to the public (Genes Direct) ⁵ and the possibility of genetically profiling babies at birth (Profiling the Newborn) ⁶. It most recently considered the issues in respect to new developments in reproductive technology (Making Babies) ⁷ and is currently addressing paternity testing and related relationship testing services. The HFEA was set up to develop policy, and regulate the delivery of services in relation to assisted conception. It licenses all centres in the UK providing such services and develops the guidelines within which such services must be delivered. As pre-implantation genetic diagnosis involves IVF, the HFEA is also the regulatory body, which oversees and licenses applications in this new field of service development. The HFE Act, which provides the legislative framework within which the HFEA conducts its work is currently under review. As part of this process, the Department of Health launched a Consultation which addressed many of the issues of current concern and debate, in order to seek views prior to any changes being made to the Act. The functions of the HFEA will be merged with those of the Human Tissue Authority to create a new policy and regulatory body The Regulatory Authority for Fertility and Tissue ( RAFT) in 2008.

Confidentiality and Consent

Though important in all medical practice, confidentiality and consent issues are of particular relevance in relation to genetic services both in Scotland and elsewhere. A distinct aspect of genetic disorders is that they affect not only individuals, but groups of related individuals. By nature, therefore, the work of clinical genetic services is family based and may be faced with particular ethical problems. Genetic information about one person may reveal information, sometimes problematic, about their relatives including any unborn children. When only one member of a family seeks advice, there are almost inevitably implications for other members of the family whose needs and wishes must be taken into consideration. For instance, as well as the right to know, family members have the right to choose not to know information. This must be respected and ways found of achieving this which will not compromise the position of other family members who require the information in order to inform decisions. For this reason medical genetics as a specialty, has always paid particular attention to consent issues in relation to their practice and addressed this aspect of any new developments very carefully. In this respect the professional organisations concerned such as the Clinical Genetics Society and the British Society of Human Genetics as well as the Joint Committee on Medical Genetics have published, over the years, specific guidance on consent in a number of areas such as:

• Written consent for genetic tests
• Specific detailed consent procedures for pre-symptomatic testing in relation to adult onset diseases such as Huntington's disease or familial cancers
• The testing of children

and most recently Consent and Confidentiality in Genetic Practice: guidance on genetic testing and sharing genetic information ⁸. Comprehensive Guidelines on Genetic Testing have also been published by the European Union in recognition of the importance placed on this issue internationally ⁹.

In response to current interests in data protection and confidentiality issues there are considerable efforts being made to ensure that users of the NHS are made aware of what health data is routinely collected and what it is used for. Given the sensitivity of genetic information, it is particularly important that service providers ensure information is given to patients on what genetic health information is held on patients and their families, where, why and how access is controlled. The current intention to move towards the development of a single, universal, electronic patient record for users of the NHS presents a particular challenge for genetic services. Here scrupulous attention to confidentiality will be required especially in planning how third party information will be managed and access requests regulated.

Scottish Legislation

Though the relevant guidelines are generic in content, there are differences in legislation in Scotland which must be taken into account in their application in practice here. In addition to differences in the Common Law, different legislation governs consent for the use of human tissue or bodily specimens (both in clinical practice and research). There are also differences in the legislation in relation to consent in both minors and adults with incapacity in Scotland.

With some exceptions, the Human Tissue Act (2004) does not extend to Scotland, where separate legislation - the Human Tissue (Scotland) Bill - was introduced in the Scottish Parliament in June 2005. It deals with the authorisation of the use of human tissue in the context of transplantation, post-mortem examinations and some amendments to the Anatomy Act 1984. Consent for the use of specimens for clinical tests and the research use of surplus tissue taken from the living will be dealt with in forthcoming guidance from SEHD. The provisions in the 2004 Act relating to non-consensual analysis of DNA do apply to Scotland. The Act makes an offence of possessing DNA with the intent to analyse it without qualifying consent unless the possession is for an excepted purpose, e.g. with a view to implementing an order or direction of the Court.

In relation to young people under the age of 16 who may be competent to consent to medical treatment, issues covered in England by the legal concept of "Gillick (or Fraser) competence", in Scotland are the subject of specific legislation. The Age of Legal Capacity (Scotland) Act 1991 gives a young person of any age a right to give his or her own consent to medical treatment if in the professional judgement of a doctor he/she has the mental capacity to understand what is involved. That includes contraceptive treatment. A competent young person is owed the same duty of confidentiality as an adult.

The law of Scotland generally presumes that adults (those aged 16 or over) are legally capable of making personal decisions for themselves and managing their own affairs. That presumption can be overturned in relation to particular matters or decisions on evidence of impaired capacity. The Adults with Incapacity (Scotland) Act 2000 sets out a framework for regulating intervention in the affairs of adults who have impaired capacity, in the circumstances covered by the Act. Part 5 of the Act covers medical treatment and research.

For the purposes of the Act 'incapable' means incapable of acting,; or making decisions; or communicating decisions; or understanding decisions; or retaining memory of decisions; in relation to any particular matter, by reason of mental disorder or of inability to communicate because of physical disability.

A number of other legal requirements in Scotland also need to be considered, such as the Mental Health (Care and Treatment) (Scotland) Act 2003 the Community Care and Health (Scotland) Act 2002 and the forthcoming Vulnerable Adults Bill.

Genetics Services, Disability and Discrimination

As developments in clinical genetics occur, there will come the feasibility for antenatal testing and screening for an increasing number of genetic disorders. Fears have been voiced that enabling couples to exercise reproductive choice over a much wider range of conditions may lead to a progressive devaluation of the lives of those in society born with a disability. Thus, the disabled population is put at further disadvantage by the development and expansion of antenatal screening programmes. The HGC address this important issue in their report on developments in genetics and reproductive technology ⁷. They are clear that the availability of services which allow reproductive choice for couples at risk of having a child with a serious genetic condition is justified. But, "in a society where such programmes are offered there is a clear social responsibility to continue to counter discrimination on the basis of disability and to provide appropriate services and support for all those with impairments." Also, "social justice demands that all those with a disability are treated as a valued member of society".

Later in our report we address the need to develop appropriate support mechanisms and services for the large number of people in Scotland with a chronic, long term, genetic condition, many of whom have significant disabilities and have complex needs.

Genetic Testing, Insurance and Employment

The human genome project and the rapid pace of genetic discovery is leading to the increasing use of genetic testing within the clinical arena, as well as the use of genetic technology in forensic work. The mounting use of computers and sophistication of IT&M in the health and business worlds is giving rise to real concerns about the potential accessibility of the personal genetic information which can be generated by such testing. Concerns over privacy and the confidentiality of personal genetic information extend to the use of that information by agencies outwith the healthcare sector such as the insurance industry and employers. One of the principal concerns raised about genetic testing for adult onset disease has been the spectre of discrimination in health, life and disability insurance, as well as in employment.

One of the clearest threads running through the responses to the HGC's public consultation on the use of personal genetic data, was a high level of concern over possible discrimination on the grounds of genetic characteristics. The principle of non-discrimination is one of the four important secondary principles that are derived from the overarching principle of respect for persons. These principles are widely recognised in biomedical ethics and the HGC is firmly committed to them. In this respect the HGC strongly upholds the principle "No person shall be unfairly discriminated against on the basis of his or her genetic characteristics." In their rejection of genetic discrimination, the HGC's position reflects Article 6 of the Universal Declaration on the Human Genome and Human Rights, and the EU Charter of Fundamental Rights. In their concern over the possibility of "genetic labelling", which "may result in some people being treated as less employable, less reliable, or less valuable than others", the Commission have been powerful advocates of the need to have in place the same type of safeguards that already exist in legislation to protect against other forms of social and employment discrimination such as racial or sexual discrimination and discrimination on the grounds of disability. A comprehensive discussion of the HGC's views and reasoning in this area can be found in their report 'Inside Information'. ⁴

All these areas of potential discrimination are areas in which the HGC has taken a particular interest and has been actively involved in providing advice to Government. The Scottish Executive are acutely aware of the potential for discrimination and thus takes an active interest in, and contributes to, the debate and policy formulation in these important areas.

In this context the Executive welcomed the recently announced extension of the Moratorium on genetic testing in relation to insurance.

Stem Cell Research and its possible applications

Pluri-potential stem cells can be derived from embryos which are created by IVF or therapeutic cloning, and then used in research aimed at developing therapy for chronic, disabling conditions, e.g. Parkinson's disease, or for inherited disorders. This is an extremely sensitive area and the subject of much current public and Parliamentary debate. Scottish scientists are at the forefront in this new and challenging area of research and are fully involved in the ethical debate that accompanies it. As in elsewhere in the UK, work in this area in Scotland is regulated by the HFEA.

Pharmacogenetics

Many believe that developments in pharmacogenetics will provide the first wide-spread application of the new genetics into everyday clinical care. Scottish scientists are amongst the world leaders in research in this area. However, these developments, as in other fields in genetics, are not without their ethical concerns which have been debated in a number of different fora. The Nuffield Council in Bioethics has taken a particular interest in this field in recent years and has published a comprehensive report on the ethical considerations in relation to pharmacogenetics (Pharmacogenetics: ethical issues) ¹⁰.

Genetic Screening

The recent expansion of the newborn screening programme to include testing for cystic fibrosis and haemoglobinopathies (England only at present) is effectively the first time population wide screening for specific genetic diseases has been implemented in the UK. As knowledge progresses it is likely that screening for other genetic disorders will follow in time. Genetic screening is associated with many complex issues because of the implications of the screening test result not only for the individual being screened, but also for other family members. In some programmes there may also be the problem of identifying individuals who are healthy carriers and the issues that this raises need to be carefully considered. The Nuffield Council on Bioethics Report, published in 1993 ¹¹ explores fully the issues of concern in relation to the ethics of genetic screening. The Council plans to publish an update as a supplement to the original report on its website in 2006. The update will provide advice to the Council on the impact of the Report since 1993 and whether any specific follow up action should be taken.

In recognition of the additional dimensions that are raised in screening for genetic disorders, the UK National Screening Committee ( NSC) has also produced Guidelines on the additional aspects that should be considered in relation to the evaluation of proposals for screening programmes, which involve genetic diseases. These Guidelines can be found on the NSC web-site at www.nsc.nhs.uk .

Patient Involvement and Support

In line with current policy it is considered not only good practice, but essential to involve patients at all stages along the way from policy development, to service planning, implementation and audit. The desirability, and value of this involvement is widely acknowledged and is a corner-stone of a key recent Scottish policy direction, the establishment of Community Health Partnerships. The concept has received further endorsement in the recently published National Framework for Service Change in Scotland (the Kerr Report) ¹². Nowhere is such involvement more important than in relation to the planning and delivery of services for medical genetics which are an emotive and sensitive area. The Review Group fully endorse this approach and recommend to SEHD that efforts are made to ensure that patients and their families are involved in all groups involved in the planning and delivery of genetics services and in monitoring their quality.

The Genetic Interest Group ( GIG) is an umbrella organisation which brings together a very large number of different genetic disorders (and support groups) to provide a unified voice for patients affected by genetic disorders, their families and their carers. GIG has been responsible for carrying out a number of important surveys in relation to the delivery of genetics services in the UK such as that on ethnicity and genetics, and has produced important documents as well as useful patient/public information materials. The organisation also represents patients interests on a number of important high level groups such as the Human Genetics Commission and the Genetic Commissioning Advisory Group. The Review Group is aware that the work of GIG has wide support from within the genetics community in Scotland. During the course of their deliberations the Review Group became aware that Scotland was the only country in the UK in which the GIG did not have a formal presence and were pleased to hear later in the course of their work that this situation has now been rectified with the award of funding to GIG through the Section 16B scheme. Building on the recent appointment of a GIG representative in Scotland will enable appropriate representation for Scottish patients and families with genetic disease.

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