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CHAPTER 9: BETTER INTEGRATION OF CLINICAL GENETICS SERVICES WITH THE GENETIC RESEARCH COMMUNITY AND THE LIFE SCIENCES INDUSTRY IN SCOTLAND
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. This will in turn be informed by the community interest in genetics and strengthened by commercial opportunities for life sciences, and ethical wealth generation.
Scotland already has many strengths on which to build in this respect. The genetic services within the NHS in Scotland, though in need of additional support and development, are well established and widely envied. Scotland has a long history of research in genetics, the quality of which is widely acknowledged, with research groups in each of the four academic centres which are internationally recognised for their scientific excellence. In addition, Scotland has over recent years earned a reputation as one of the international centres of excellence in the life sciences, not only for the indigenous academic strengths, but also for the emerging cluster of young businesses and the many opportunities for the two to interact.
Scottish scientists are at the forefront in every area of importance in genetic research. Edinburgh hosts the Medical Research Council Human Genetics Unit and scientists from here and the University of Edinburgh are actively engaged in a diversity of genetic research which includes the development of gene therapy for cystic fibrosis, the genetic component of common mental health problems and population-based studies in the Scottish Islands. In Glasgow a broadly based genetics research programme includes the development of gene therapy in relation to cancers as well as an extensive study of the genetic components of cardiovascular diseases. The University of Dundee is host to internationally recognised research groups working in amongst other areas, pharmacogenetics, cancer genetics and genetic skin disorders. In Aberdeen, in addition to well established research interests in osteoporosis and the genetic component in a variety of bone disorders, there are groups working on schizophrenia, ageing, epilepsy, clubfoot, and the molecular aspects of cancer diagnosis and treatment.
Alongside the universities are the two Scottish Schools of Pharmacy in Dundee and Strathclyde, the Robert Gordon University, as well as Tayside Pharmaceuticals. Teams of formulation scientists are actively engaged in these institutions in pharmacogenetic research and in projects aimed at identifying and producing novel therapeutical agents that mimic the biological products of proteomics.
The service planning data from NHS Scotland held by the Information and Statistics Services Directorate ( ISD) of NHS National Services Scotland, is widely envied for its unrivalled quality and breadth. The potential to link data about healthcare usage from NHS Scotland with an improved understanding of the population's genetics, holds powerful potential to revolutionise future healthcare. It is a further advantage that the size of the Scottish population at some 5 million, combined with its relatively low mobility lends itself to studies of this sort and helps to ensure that data are of research quality.
Part of the vision of 'A Smart Successful Scotland: ambitions for the Enterprise Networks' published by the Scottish Executive Enterprise, Transport and Life-Long Learning Department was the need to grow businesses. It was held to be an important aspect of this to stimulate increased commercialisation of research and innovation by building more effective links between our universities and businesses. However, it is a real challenge to establish such links in ways that are both effective and yet ethical and acceptable to the public.
In recognition of the importance of creating an environment conducive to delivering benefits to healthcare from genetics research in Scotland, as well as providing the opportunity to generate new life sciences business and economic growth, the Scottish Executive Departments of Health, and Enterprise, Transport and Life-Long Learning jointly launched an initiative on genetics and healthcare in 2004. A budget of £4m was made available for the first two years of this project. The funding was intended to establish a strong infrastructure capable of enabling the significant advances in our understanding of the contribution genetic make-up plays in determining major ill health in the Scottish population to be used in the development of healthcare in Scotland. The initiative aims to be complementary to the recruitment envisaged as part of the UK Biobank Study and to build upon the research quality NHS Scotland planning data, held mainly by ISD, as well as the well-developed information sources of the primary care sector in Scotland.
The Genetics and Healthcare Initiative ( GHI) was launched in December 2004 and £4.4m made available to fund the Scottish Family Health Study ( SFHS). Five medical schools in Scotland have joined forces in a research study to uncover the importance of inherited genetic defects and their links to the country's poor health record on a range of serious health problems. A total of 15,000 Scots aged between 35 and 55 are to be recruited over the next three years to assess the genetic predisposition of the population to heart disease, diabetes, stroke, osteoporosis and mental health. The hope is to build the numbers to 50,000 over five years, subject to proof of principle. The findings will be used to initiate a series of further research studies into the prevention, diagnosis and treatment of key health problems that affect thousands of Scots each year. The SFHS aims to create a visionary Scottish resource to support a diverse range of research to look at the prevention, diagnosis and treatment of illness and to promote good health.
In addition to the GHI projects, which will be longitudinal studies concentrating on polygenic disorders, it will be important to facilitate more basic research.
The results of genetic diagnostic work need to be made available and accessible to research workers to develop further biological concepts which will be fundamentally informed by the human disease pathology and genetics. Appropriate privacy- protected databases need to be developed for collection of all data from specific diseases, to put it to good genotype phenotype correlation. UK-wide interactions are important to glean statistically significant information.
Conversely the development of new diagnostic technology, prior to the development of new clinical genetics services, will inevitably depend on research, particularly in relation to rare diseases. There are good examples of the mutual benefit from such collaborations and information exchange. Familial predisposition to colon cancer provides a good example of where individual and family studies converge with population data, to provide much clearer predictive information. Among rarer abnormalities, research in developmental eye disease has used information from human studies to suggest experimental analysis in model systems while model systems can suggest further clinical investigation for better understanding of the phenotype. Technology development will flow from laboratory work, particularly where high through-put simple procedures need to be developed.
Another significant, potentially commercial, area where Scotland may excel is in IT tool developments for effective and secure data handling. Edinburgh and Glasgow jointly host the National e-Science Centre. The need for radical developments in information management for the NHS and collaborating medical researchers in Scotland is well established and urgent and of particular importance in genetics related activities. The exchange of data among clinical and research communities may well be an area where Scottish expertise could profitably seek to lead UK progress.
To achieve these goals several first steps will be required:
1. Compilation of a comprehensive database of current clinical and academic research related to genetics in Scotland. This should then be broadened to include related research supranationally and internationally.
2. The appropriateness of the Information Technology and Management ( IT&M) infrastructure and provision across Scotland to enable mutual reciprocal access of scientists to the clinical data and clinicians to research data will require to be addressed. This is a serious issue. There needs to be a system which links genetics laboratories and research institutes with clinical centres and which ideally is accessible to other specialties such as primary healthcare. In short, all the relevant bodies should be able to readily interface with the genetic and clinical data but critically, without breaching confidentiality and privacy. Since other parts of the UK will inevitably be addressing similar issues some cognisance should be taken of other UK based IT&M systems which may be being developed elsewhere in the UK.
The Review Group considered that the kind of valuable interactions between the clinical, research and life sciences communities discussed above, and which would be fundamental to the success of the GHI, would be greatly facilitated by the establishment of a forum for discussion. Creating a forum between academics and clinicians would enable them to exchange information and align their interests. Inclusion of representatives from industry, would promote technology transfer as well as ethical wealth generation in the life sciences. However, the Group were aware of the importance of maintaining a balance between maximising the utility of clinical data and protection of individual confidentiality and privacy.
During the course of their deliberations in this area the Review Group discussed the establishment and success of the Scottish Stem Cell Network. In the context of stem cell technology and regenerative medicine, similar concerns are being addressed by the establishment of networks which have not only a knowledge transfer role but also seek to inform the public debate. The Scottish Stem Cell Network ( SSCN) is one such example which grew out of a series of seminars designed to enable clinicians to inform the research community of their needs in terms of regenerative medicine and for the scientists to inform the clinical community about the state of the art and what may be possible. Thus, research direction for clinical benefit was informed and strategies for mutually beneficial funding
developed. This has then provided the foundation for informed public debate, on the one hand limiting expectations for the technology and on the other allaying fears about the negative impact of the technology. Such networks are also welcomed by the commercial life sciences and investment community as they provide a single comprehensive source of expertise, know-how and available I.P. The SSCN is beginning to establish further links nationally and internationally with involvement in the establishment of other UK based and European networks.
The Review Group consider that the establishment of a funded and staffed Scottish Genetics Research Network ( SGRN) based on the SSCN model could be an ideal forum for bringing together clinical, research and life sciences interests in genetics to enhance liaison and communication, and facilitate technology transfer. This initiative would ideally build on the infrastructure funded through GHI. As we have described, this multi-agency project already brings together the Scottish Medical Schools and other key players in genetic research in Scotland. The project has already begun to address important areas such as secure database design, commercialisation and benefit sharing with the public.
An important perception for the success of such a strategy should be that the Network is managed by a group representing the stakeholders, but that the coordinator/operating officer responsible for the budget is 'neutral' and that the Network is based in a neutral environment such as, for example, the Royal Society of Edinburgh. The Network as an independent body could also take responsibility for the database of research activity discussed previously and provide a focus for discussions about IT&M provision to allow controlled sharing of genetic data among clinicians and researchers. The inclusion within the Network of all those involved in GHI will ensure close coordination and collaboration across the field of genetic research in Scotland.
In establishing such a Network it would be important to ensure that appropriate cross-links are established between the Genetics Research Network and the Network for social science and the humanities and others with an interest in public awareness and the societal implications of genomics, which is proposed in an earlier section of this report. By virtue of their membership of both of these Networks, the clinical geneticists and others who are developing educational materials for healthcare professionals in NHS Scotland will be aware of advances in knowledge across the field as they occur, and thus able to modify the teaching materials accordingly and in a timely manner.
The involvement of the internationally recognised legal and ethical expertise which exists in various groupings in Scotland in the SGRN is essential. Awareness of wide-ranging consent issues is a prerequisite for successful delivery of genetic services and the conduct of genetic research programmes. As we have discussed earlier only one aspect of the Human Tissue Act, recently implemented, will apply in Scotland, and, new equivalent legislation and guidance is being introduced here. As a UK body, the regulatory authority of the HFEA extends to Scotland and covers the relevant work of genetic and related services as well as some aspects of genetic research in Scotland. All research groupings need to be aware of the EU Tissue Directive and other existing or forthcoming EU genetics related rulings. Scottish participation in dialogue leading to new legislation is essential and should be encouraged.
Thus, a Network as envisaged would bring together those from the fields of:
- Clinical medicine and genetics
- Social science
- Ethics and the humanities
- Genetic research
- Medical Law
- Life sciences industry
As with the social science and public engagement Network discussed earlier, in order to function effectively and achieve its objectives, the Scottish Genetic Research Network will require:
- An overseeing Steering Group
- A Network Coordinator with appropriate office accommodation and resources to establish a web-site and the necessary electronic links with network members
- The Network will need to have an identified 'home base'.
The successful Stem Cell Network could be used as a model for such a development and based on the experience of the SSCN, it is envisaged that funding in the region of £150K/yr could be required to support the proposed Network. ( See Appendix 9)
Again, 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 Review Group are aware that Scottish Enterprise fund three theme specific coordinated Networks:
- The Scottish Bioinformatics Network
- The Scottish Stem Cell Network
- The Scottish Biomanufacturing Network
There would appear to be the possibility of considerable overlap between the interests of these Networks and what is envisaged for the proposed Genetics Research Network. The Group feel, therefore, that the Scottish Executive may wish to consider with Scottish Enterprise how the SGRN can be most effectively funded alongside these other related Networks where cost savings could be made if core central services, common to the needs of all the Networks, e.g. human resources, accounting, legal expertise, were to be brought together.
The Review Group recommend that the Scottish Executive fund, possibly in collaboration with Scottish Enterprise, the establishment of an appropriately resourced Scottish Genetics Research Network, and enter into discussions with appropriate organisations in order to identify a suitable, 'neutral', environment in which the Network can be hosted. This initiative would ideally build on the infrastructure and work already funded through the Genetics and Healthcare Initiative.
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