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EXECUTIVE SUMMARY
Background
Over the last few years there have been rapid and important developments in genetic science, and significant changes in the way healthcare is delivered as well as in the social environment in which it is delivered. Recent years have also seen rising awareness and interest in genetic issues, fuelled by increasing speculation about the potential application of genetic knowledge across all areas of healthcare after the completion of the human genome project. As a result there have been significant developments within genetics at a UK level. The publication of a Genetics White Paper in England, which was accompanied by significant investment in genetics, was followed by reviews of genetic services in both Wales and Northern Ireland. It is against this background that this current Review of the position in Scotland was commissioned by the then Minister for Health and Community Care, Mr Malcolm Chisholm.
Our Remit
The Review Group were given a wide remit to assess what developments and resources would be required to enable the NHS in Scotland to be in a position to harness developments in genetics to maximum advantage and thus realise the benefits for health in Scotland. In taking forward our remit we were asked also to consider a number of related issues to enable the development of a strategy for genetics and health for Scotland.
Ethical and Legislative Context
Many developments in genetics are associated with important ethical and societal issues, which may often be controversial. 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 acknowledge the importance of this area, we have not dealt with these various issues in great depth in our Report. Rather, whilst noting the differences in legislation in relation to consent in Scotland, we have concentrated on the application of developments in genetics to the development and delivery of healthcare in Scotland, as this area falls within the jurisdiction of the Scottish Parliament and Scottish Ministers.
Public Awareness and Engagement - A Network
From the outset we recognised that enhancing public awareness and knowledge about genetics was an important area. Not only will this play a key role in aiding public understanding and acceptance of new developments and the benefits that they can bring, but it will also help to manage expectations and be important for the success of genetic research projects which will depend on the altruism of individuals who are invited to participate. What was clear from our exploratory work and discussions with many key figures in the field, was that there is a great deal of relevant activity currently taking place across Scotland. Not only is there an active social science research agenda, 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. However, in the course of our discussions we became aware that many of those in Scotland who are working in the field, are working in isolation on these topics, though within broadly based organisations. Given the extent and range of activity currently underway in Scotland that our enquiries identified, we did not feel that there was a need to recommend the development of any new initiatives in this area. Rather we considered 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. We have therefore recommended 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 genetics, 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. [Recs. 2.1; 2.3]. We propose that this network should be established under the aegis of the recently established Economic and Social Research Council ( ESRC) Genomics Policy and Research Forum based in Edinburgh University.[Rec. 2.2].
In addition, we address the need to involve patients and families in the planning and delivery of services and the need to ensure that health related information and materials on genetics are available for patients and the public. [Recs 2.4 - 2.6]. We also highlight the need for service providers to give information to patients on what genetic health information is held on patients and their families, where, why and how access is controlled.
Development of Scottish Services for Genetic Medicine
As the rapid pace of developments in genetics continues, with the identification of more and more specific disease causing genes and more is learned about the genetic features of common diseases such as heart disease and diabetes, it is anticipated that there will be significant increases in the demands for genetic counselling and genetic testing services. Thus to enable us to assess whether the current capacity was adequate to meet present demands and to address emerging challenges, or whether strengthening was required to boost the ability of the service to meet the anticipated increase in demand, we carried out a review of existing specialised NHS genetic services across Scotland. We currently have a position which compares very favourably with that elsewhere in the UK. Our clinical genetic services are well established and we have a genetic laboratory service which has provided the model on which developments in other parts of the UK are being taken forward. However, as our Review has revealed, there are identifiable gaps on the clinical side between the current staffing levels and those that are recommended for the speciality. This is a major reason why our services would not currently be able to meet the quality standards, against which services elsewhere in the UK are being bench-marked nor the Waiting Time Targets towards which NHS Scotland is working. Also, although currently relatively well equipped and up-to-date, there is no doubt that laboratories in Scotland require modernisation and will begin to lose their current advantages over time unless investment is made and continues to be made. With the expansions and opportunities now occurring in England we are at risk of having both our clinical trainees and our Scottish scientists recruited to the South. We make a number of recommendations and give estimates of the resources that will be required to boost capacity within both the clinical and laboratory genetic services in order to bring them up to currently recommended national professional workforce levels and strengthen the services so that they can not only deal with current demand more efficiently, but be in a stronger position to deal with the expected expansion of services. [ Rec. 3.3; Appendix 7]. In addition we make recommendations for bringing the genetic laboratories up to date and allowing them to maintain this position by the provision of a rolling capital budget to enable regular equipment replacement in this fast moving field. [Recs. 3.9; 3.11]. As a means of facilitating the most cost effective and efficient way of delivering an equitable genetic service across Scotland, we make recommendations for moving all aspects of the NHS genetic services in Scotland to central or national level coordination and management, including a move to national level coordination of the budgets involved. [Recs 3.1; 3.2; 3.7; 3.8].
Service Re-design - two Demonstration Projects
As well as considering the measures that are needed to strengthen the current clinical and laboratory services, we considered ideas that had been put forward for different models of service delivery. We were impressed with these models and therefore propose that two demonstration projects should be funded. Firstly the appointment of a Consultant Clinical Geneticist with a specialist interest in genetic neuro-muscular disorders who, though jointly appointed by 2 genetic centres would have a pan-Scotland remit providing a 'hub and spoke' type service, thus, making very specialist expertise available equitably to the relatively small number of patients across Scotland with these rare diseases. [Rec 3.5]. Secondly, the sessional employment of GPs within the specialised genetic service in Tayside, who would work alongside genetic colleagues and those in primary care and Community Health Partnerships ( CHPs) locally to develop shared care protocols for the groups of patients with chronic (mainly single gene) genetic conditions, many with significant disabilities and complex needs, who require long term follow up and care in the Community. [Rec. 4.2]. If on evaluation they prove successful, these projects could provide models for developing equitable services across Scotland for both very specialist expertise for patients with rare genetic diseases and follow-up and active case management for the large numbers with chronic disorders and complex needs who require long term support and shared care in the Community. We also suggest that the management and support of such patients would be further strengthened by the development of posts for Genetic Care Coordinators, who could be jointly funded with the voluntary sector, and who would work alongside the other agencies in CHPs. [Rec. 3.6].
The Use of Molecular Genetic Technology Across the Laboratory Disciplines in NHS Scotland
DNA based tests are being increasingly used across the pathology disciplines in the NHS. Ad hoc development of such services could lead to wasteful duplication, since many of these tests will only be required in small numbers. We were, therefore, asked to explore ways of coordinating the development of such services (perhaps alongside the specialised genetic services) so that effort can be concentrated in relatively few centres, and expensive facilities shared, in a cost effective and efficient way. Accordingly we have made recommendations for the establishment of a tiered structure of coordinating mechanisms building on the model of the highly successful and efficient molecular genetics consortium arrangements, which were commended in the Kerr Report. [Rec. 3.17].
Fundamental to the successful delivery of these laboratory services is that they should be underpinned by the availability of an adequate workforce of biomedical scientists and technicians, for whom appropriate career pathways have been developed. We are not alone in identifying problems in this area and therefore recommend that the Scottish Executive Health Department ( SEHD) work with the National Services Division ( NSD) of NHS National Services Scotland and the NHS Education for Scotland ( NES) to take forward the modernisation and strengthening of clinical scientist training in Scotland with some urgency. In doing so we recommend that ways of rationalising the delivery of training in molecular techniques across the spectrum of laboratory disciplines should be explored. [Recs. 3.18 and 3.19].
Policy Context
We are aware of the proposals in the recently published National Framework for Service Change in the NHS in Scotland (the Kerr Report) as well as the subsequent action plan laid out in Delivering for Health, and consider that all our proposals in relation to genetic services in Scotland and the care of patients with genetic diseases are entirely consistent with the ethos of the proposals in the framework. Indeed, the implementation of our proposals in this area would take forward the implementation of the recommendations in the Kerr Report and Delivering for Health as they relate to genetics in Scotland.
In addition the shared care model we propose for the support and care in the community of those with long term genetic conditions, and often complex needs, are in line with the approach underpinning both the Joint Future and the Patient Focus and Public Involvement agendas.
Primary Care
We recognised fully the significant role that primary care practitioners currently play and potentially will play in the future and the need to give careful consideration to the educational and training needs that they will require to be met to support them in fulfilling this role. We have therefore charged NES with the responsibility of ensuring that appropriate and accessible educational materials and training opportunities are made available for those in primary care, including those who wish to develop enhanced skills in genetics. [Recs. 5.4-5.5]. We have also recommended that the number of genetic counsellors is expanded significantly as we see them as playing a key role in the further integration of genetics into all specialities and in particular into primary care - both providing advice and expertise to the primary care team and the vital liaison with the specialist genetic services. [Recs. 4.1 and 5.9].
Education in Genetics for Healthcare Professionals
The rapid pace of developments in genetic science means that the use of genetic knowledge and technology will become an integral part of delivering modern medical care across all specialities and will have implications across the whole healthcare sector. It is vital therefore that as new doctors and other healthcare professionals are trained, education and training in genetics is appropriately incorporated into their training. We therefore have made suggestions for how experience in genetics could be built into the specialist training of new doctors and feel that given the significant changes currently occurring in the format of medical education, now would be a good time to give this careful consideration. [Rec. 3.4]. To ensure that the genetic educational needs of the full range of healthcare professionals are addressed we have recommended that the Scottish Genetics Education Network ( ScotGEN) is encouraged to build on the valuable work they have already started on the basis of funding from the Genetics and Healthcare Initiative ( GHI), to develop computer delivered education in genetics for healthcare professionals and that they are then appropriately funded and resourced after this period to further develop their educational and training proposals, including ongoing continuing professional development in relation to genetics, for health care professionals in Scotland. In addition we have recommended that a post for a dedicated Project Officer is funded, for an initial period of three years, to support the ScotGEN Steering Group and help drive forward the development of the project as well as facilitate the delivery of the clinical teaching modules developed. We propose that ScotGEN is formally linked to NES to provide a core 'home' for the design, commissioning and assurance of genetic education for the full range of NHS professionals in Scotland. Also, that NES should consider the development of a genetics portal through the auspices of the NES e-library to provide an access platform for the delivery of ScotGENs teaching materials. [Recs. 5.1; 5.2].
We strongly support proposals for the establishment of an MSc course in Genetic Counselling in Scotland to ensure training opportunities are available to support the expansion in the genetic counsellor workforce which we envisage will be required. Such a course would be open not only to those with a nursing background, but also to other life science graduates and thus provide an opportunity to attract non NHS people into the NHS and the field of genetics. An important consideration, given the unintended detrimental impact on another aspect of service delivery that could ensue from only accessing a finite pool of nurses. We recommend that NES be resourced to commission such a course. [Recs 5.8].
Links Between Genetic Medicine and Genetics Research - a Research Network
Scotland has a powerful genetic research capability, but, maximising the opportunities presented by the 'new genetics' for patient care will require the strongest possible synergies to be developed between the clinical and research communities, and the provision of opportunities for rapid technology transfer and its translation into clinical practice. In recognition of this the Scottish Executive recently funded the £4m GHI. The Review considered that the kind of valuable interactions between the clinical, research and life sciences communities which would benefit patient care, and would be fundamental to the success of the GHI, would be greatly facilitated by the establishment of a forum for discussion, which would enable academics and clinicians to exchange information and align their interests. Inclusion of representatives from industry, would promote technology transfer as well as ethical wealth generation in life sciences. Collaborative working of this nature would be in line with the approach envisaged in the Life Sciences Strategy. To provide the opportunity for such dialogue, whilst being acutely aware of the importance of maintaining a balance between maximising the utility of clinical data and protection of individual confidentiality and privacy, we propose that an appropriately funded and resourced Scottish Genetics Research Network be established based on the model of the highly successful Scottish Stem Cell Network. [Rec. 6.1]. This initiative would ideally build on the infra structure funded through GHI. This multi-agency project already brings together the key players in genetic research in Scotland and has begun to address important areas such as secure database design, commercialisation and benefit-sharing with the public.
A suitable 'neutral' organisation to host the Network will need to be identified. As Scottish Enterprise already fund three theme specific coordinated Networks the possibility of there being economies of scale from co-funding of core support services such as Human Resources, should be explored.
Information Technology and Management Support ( IT&M)
A recurring theme throughout our review exercise and our subsequent Report is the pressing need for considerable development of Information Management and Technology support for both NHS genetics services and genetic research in Scotland and the development of mechanisms which allow closer collaboration between the two. We therefore recommend that the SEHD, in collaboration with the Information Services Directorate ( ISD) of NHS National Services Scotland should establish a project to consult with potential users and draw up a description of the functions that will be required of IT&M systems to support the developments of genetic services and research outlined in this Report. The description should include both the technology and dataset requirements for all of the aspects we have detailed in our Report. [Recs. 7.1; 7.2], and recommendations made of how these requirements can be addressed in ways that are compatible with the IT&M Strategy. Funding should then be identified to implement the recommendations from the project which are not already funded within the context of GHI, or made available by the implementation of the e-Health Strategy.
Coordination and Delivery of our Recommendations - A Steering Group
At the conclusion of our Review, we are aware that we have made a number of recommendations that range over a very wide area. However, all these aspects are inextricably linked and the potential benefits from their implementation within the framework set out in our Report can only be maximised by them being taken forward in a coordinated and coherent fashion. In addition to coordination we feel that it would be important to have a mechanism in place that would ensure that the momentum of implementation was maintained and monitored. We considered that one way of doing this would be for the Scottish Executive to set up a fixed term steering or coordination group. The establishment of such a group would have two advantages:
- provide the impetus to deliver
- encourage 'buy in' from the field
In addition, should new funding be made available, the Group could be charged with responsibility for prioritising the allocation of resources within the budget agreed.
We therefore recommend that the Scottish Executive should consider the establishment of an over-arching coordination and steering group which will oversee and monitor the implementation of developments across the various inter-related themes covered in our Report. [Rec. 1]. We were made aware of the way that the Scottish Cancer Group was originally set up, and the role it played in enhancing the delivery of cancer services across Scotland, through the implementation of the Cancer Plan. We commend this as a model that could be adopted in relation to developments across the field of genetics.
Link to Executive's response to each of the recommendations
( /Publications/2006/09/geneticsrecs)
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