Scottish Government

SUMMARY OF RECOMMENDATIONS

1. The Review Group are aware that they have made a number of recommendations that range over a very wide area. However, all these aspects are inextricably linked and the potential benefit from their implementation within the framework set out in the 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.

1.1 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 interrelated themes covered in this Review.

We commend the Scottish Cancer Group, as originally set up, as a model that could be adopted in relation to developments across the field of genetics.

2. The Review Group's Recommendations in Relation to Public Awareness and Engagement are:

2.1 The Review Group recommends 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 in 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.

2.2 The Review Group recommends that SEHD should seek the establishment of a formal network in Scotland 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.

2.3 The Review Group recommends 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 preliminary estimate of the resources needed can be found in Appendix 3.

2.4 The Review Group recommends that SEHD seeks to ensure that patients and their families are involved in all groups involved in the planning and delivery of genetic services and in monitoring their quality.

2.5 The Review Group recommends that NHS Education for Scotland ( NES) should work with the public engagement network, and organisations promoting and facilitating public education such as NHS Health Scotland, the Scottish Health Council and the Scottish Consumer Council, to explore ways of enabling the basic level e learning modules being developed by the Scottish Genetic Education Network ( ScotGEN) to be made available and accessible to the general public.

2.6 The Review Group recommends that the SEHD should address where the responsibility will lie for producing and delivering appropriate health related information and materials on genetics for the general public and the patients in NHS Scotland.

3. The Review Group's Recommendations in Relation to the Development of Scottish Services for Genetic Medicine are:

3.1 The Review Group recommends that as a means of enhancing education in genetics across the medical workforce NES and the post graduate Deans should consider with NHS Boards how routine rotations in genetics can be incorporated into the training schemes for junior doctors in specialist training. This may require the establishment and funding of additional formal rotations and the availability of 'taster' modules within the Foundation Course to allow opportunities to spend time in clinical genetics.

3.2 The Review Group recommends that the four centre model for clinical genetics services with central and satellite clinics should be maintained to ensure equity of access for the Scottish population and that the SEHD work with NHS Boards, Regional Planning Groups and NHS National Services Scotland to establish a formal mechanism for the national coordination and management of the clinical genetics services across Scotland, and the development of the necessary common IT&M platforms, information sets and IT links.

3.3 The Review Group recommends that SEHD, NHS Boards and the Regional Planning Groups should consider whether the existing funding for all aspects of the clinical genetics services (workforce, space, etc) be coordinated at national level to ensure that specialist expertise and the advances in genetics are equitably applied to the Scottish population. Such a move would be in line with the collaborative, inter-regional, pooled funding approach proposed in the Kerr Report.

3.4 The Review Group recommends to SEHD that new, additional, recurrent, funding of £2.185 million is identified to allow the Clinical Genetics Service in Scotland to meet the 2005 National Professional Workforce Guidelines, which underpin the Clinical Standards of the Clinical Governance Sub-Committee of the Clinical Genetics Society ¹³.

3.5 The Review Group was impressed with the proposal put forward by Glasgow and Edinburgh for the joint appointment of a clinical geneticist with specific expertise in neuro muscular disorders, who would have a Pan Scotland remit and provide a 'hub and spoke' model of service for patients across Scotland, and recommend to the SEHD that this novel approach to the management of patients with genetic neuro muscular disorders should be funded as a demonstration project, which could, if successful, provide a model for the development of services for other defined groups of patients with rare genetic disorders such as those with inherited endocrine disorders.

Details of the proposal for the appointment of a clinical geneticist with a special interest in neuro muscular disorders for Scotland, can be found in Appendix 5.

3.6 The Review Group recommend that SEHD and NHS Boards explore, in collaboration with the voluntary sector, the feasibility of establishing Genetic Care Coordinator posts to work alongside other agencies within Community Health Partnerships to support and care for those with long term genetic conditions within the community, in the way envisaged in the Kerr Report, and identify mechanisms for taking forward this form of service development for the benefit of the many families in Scotland who suffer from long term rare conditions.

3.7 The Review Group recommend to SEHD that the four/five centre model of cytogenetics services is maintained to enable equity of access to the service and that they work with NHS Boards and Regional Planning Groups to establish a mechanism for the national coordination and management of the service across the centres, together with the establishment of the necessary common IT&M platforms and datasets, with appropriate IT links.

3.8 The Review Group recommend to the SEHD, NHS Boards and the Regional Planning Groups, that the existing funding for cytogenetic services across Scotland be nationally controlled or coordinated to ensure that the advances in cytogenetics are equitably applied to the Scottish population.

3.9 The Review Group recommend to the SEHD that £1.4m non recurring capital funding is made available to redress the current status of the cytogenetic service and provide a modern, efficient cytogenetics service for the population of Scotland, and that consideration is given to the provision of an annual rolling budget for equipment replacement within the network of Scottish cytogenetic laboratories.

3.10 The Review Group recommend that SEHD, NSD and NES should consider how best to strengthen the existing training provision of all clinical scientists as they work towards modernising and enhancing the clinical scientist training schemes for Scotland.

3.11 It is estimated that an annual additional rolling capital budget of £300k is required for the molecular genetic consortium laboratories to remain appropriately equipped and able to provide a timely and efficient molecular genetic and molecular cytogenetic service for Scotland. The Group recommend that NSD consider with the SEHD how this important budgetary change may be achieved.

3.12 The Review Group strongly recommend to the SEHD that the Scottish Molecular Genetic Consortium ( SMGC) arrangements are maintained and strengthened by the addition of a rolling capital budget to enable the laboratories to be kept up to date in this fast moving field.

3.13 The Review Group recognise that space deficiencies affect delivery, quality and development of all aspects of the genetic services and recommend that this issue, common to all four genetic centres, should be addressed by SEHD in collaboration with NHS Boards and local institutions, bearing in mind the clear advantages that have been outlined in this Report of having the clinical genetic service co-located with the genetic laboratory services, both molecular and cytogenetics.

3.14 The centrally located, funded and coordinated Newborn Screening Service has served Scotland well and the Review Group recommends to the SEHD that this model is retained and should be the basis for further organisation and development in line with SEHD policy, developed on advice from the National Screening Committee, and that appropriate resources are identified to fund the necessary developments in the service.

3.15 The Review Group recommend that the SEHD should consider with NHS Boards and Regional Planning Groups a similar model of national funding and coordination of Laboratory Pregnancy Screening Services (in line with the concept of national coordination and management of specialist laboratory services delivered on more than one site) to facilitate delivery of a more responsive and cost effective service, and ensure equity of access to high quality screening services for all pregnant women in Scotland.

3.16 The Review Group recommend that the SEHD ensure that funding is identified to allow the paediatric metabolic biochemistry service in Scotland to develop alongside its genetic counterparts in Scotland, and put it on the same footing as their counterparts in England.

3.17 The Review Group recommend that the SEHD undertake a strategic overview of the Molecular Diagnostic Pathology Services and their funding mechanisms, across Scotland, and give consideration to the establishment of a tiered structure of coordinating mechanisms to oversee the development and national coordination of molecular diagnostic technologies across the laboratory disciplines of the NHS in Scotland. These could be broadly grouped as described into three categories - infectious disease, tumour diagnosis and inherited predisposition. The Scottish Molecular Genetics Consortium ( SMGC) would be the ideal model for the arrangements for each of the groupings. It would be necessary to ensure the development of common IT&M platforms and information sets and appropriate IT links, if effective coordination is to be achieved.

3.18 The Review Group appreciate that the programme of laboratory scientist training they propose may overlap with the existing Grade A/B Training Scheme in Molecular Genetics, and recommend that the SEHD work with NSD and NES to explore ways of rationalising the delivery of training in molecular techniques across the whole spectrum of laboratory disciplines in Scotland, and take forward the needed development of a career structure for scientists and technicians in genetic medicine.

3.19 In discussing the problems of laboratory staff training, the Review Group is aware that these issues have already been brought to the attention of SEHD and that they have also been highlighted in the Kerr Report ¹². It is also aware of recent moves to begin to expand trainee numbers and of the discussions already underway about the proposal to establish higher specialist training schemes for clinical scientists in Scotland. However, given the current and increasing problems in this area, it recommends that the moves to meet the training needs of laboratory scientists are taken forward by SEHD with some urgency, in collaboration with NSD and NES, and that education and training in genetics is given sufficient recognition in the development of training programmes.

4. The Review Group's Recommendations in Relation to Primary Care are:

4.1 The Group recommend that a scoping exercise be carried out to assess the supply and demand for genetic counsellors. The identified number of required establishment posts and an appropriate number of funded training posts should be resourced to support the development and expansion of genetic services in NHS Scotland and to facilitate the integration of genetics into other appropriate clinical specialties.

4.2 The Review Group recommend to the SEHD that the Tayside proposal for the sessional employment of GPs within the specialist genetic service, be funded as a demonstration project, with a view to the model being developed across Scotland if shown to be successful on evaluation. Details of the Tayside project can be found in Appendix 9.

4.3 See also 5.4 - 5.10 below.

5. The Review Group's Recommendations in Relation to Education and Training in Genetics for Healthcare Professionals in Scotland are:

5.1 The Group recommend to the SEHD in collaboration with NES that:

• The work already initiated by the Scottish Genetics Education Network ( ScotGEN) should be built on and ScotGEN should be encouraged to take forward their proposed programme of work over the two years for which they have now been funded as a core component of the Scottish Executive Genetics and Healthcare Initiative ( GHI).
• Funding should be identified to enable ScotGEN to receive additional funding after the initial two year period, to further develop their educational and training proposals including ongoing continuing professional development in relation to genetics for healthcare professionals in Scotland.
• Funding should also be identified to resource the delivery of the educational packages they develop.
• Resources should be made available for the appointment of a dedicated Project Officer, for an initial period of three years, to support the ScotGEN Steering Group and help to drive forward this important project as well as facilitate the delivery of the clinical teaching modules as they are developed.

5.2 The Review Group further recommend to SEHD and NES that:

• ScotGEN should be formally linked to NES to provide a core "home" for the design, commissioning and quality assurance of genetic education for all NHS professionals in Scotland.
• NES should consider the development of a genetics portal through the auspices of the NES e-library in order to provide an access platform for the delivery of ScotGEN teaching materials.
• Arrangements should be put in place for the coordination of the activities of ScotGEN and for monitoring the implementation of the networks outputs.

5.3 The Review Group recognise the importance of mechanisms being in place to ensure that the requisite competencies are achieved in pre and post registration preparation. They therefore recommend that NES ensure that collaborative arrangements are in place with appropriate statutory bodies to ensure this happens.

5.4 The Review Group recommends that NES and the ScotGEN Steering Group ensure that as their programme is developed, the educational needs of General Practitioners are fully addressed and that they work with those in Primary Care to develop decision support systems to facilitate service delivery and patient care.

5.5 The Review Group recommend to NES that:

• The educational needs of practitioners in primary care in relation to genetics should be scoped and developed in collaboration with the Royal College of General Practitioners ( RCGP) in Scotland and the Birmingham Genetics Education and Development Centre and further addressed by:

• Developing e-library resources.
• Ensuring the availability of appropriate training opportunities for GPs who wish to develop enhanced skills in genetics.

5.6 Given the expanded role envisaged for pharmacists, the Review Group recommend that the educational and training needs of pharmacists in relation to genetics are addressed by NES in collaboration with The Royal Pharmaceutical Society of Great Britain, the Scottish Schools of Pharmacy and ScotGEN.

5.7 The Review Group recommend that NES, together with the SEHD, should work with educational establishments in Scotland involved in providing training for all groups of healthcare professionals, to ensure that genetics is appropriately covered in their relevant curricula.

5.8 The Review Group strongly support the establishment of a Scottish MSc in Genetic Counselling and, in recognition of the inherent problems of only accessing the finite pool of nurses in Scotland in order to meet the increased demand for genetic counsellors, endorse the provision of training opportunities in Scotland which will also be open to other life sciences graduates. They recommend that NES should be resourced to commission a Scottish MSc in genetic counselling through the ScotGEN network and in partnership with appropriate academic institutions. Funding should also be made available to enable trainees to undertake this course. In addition, they recommend that NES should be requested to undertake appropriate educational accreditation and enhancement activities in relation to the Scottish MSc in partnership with the academic institutions and other key stakeholders.

5.9 The Review Group recommend to SEHD that following a scoping exercise to assess supply and demand, funded training and establishment posts for genetic counsellors are made available to allow the development of this workforce that will be needed to support the anticipated expansion of genetic services in NHS Scotland, and a career pathway in the subject should be built up to enable appropriate career development for this important group of healthcare professionals.

5.10 The Group recommend that formal links should be established between NES, ScotGEN and the Genetics Education and Development Centre in Birmingham.

6. The Review Group's Recommendations in Relation to the Integration of Genetic Services with the Genetic Research Community and the Life Sciences Industry in Scotland are:

6.1 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.

7. The Review Group's Recommendations in Relation to Information Management and Technology Support for Genetics in Scotland are:

7.1 The proposals within this Report to move to national coordination and management of each of the components of the NHS genetic services in Scotland (clinical, molecular genetic and cytogenetic) will necessitate common IT platforms and information sets and the development of appropriate IT links. The Review Group recommend to SEHD that these be developed.

7.2 In order to take forward the required IT&M developments that have been identified, the Review Group recommend that SEHD in collaboration with the Information Services Directorate of NHS National Services Scotland ( ISD) 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 development of genetics services and research as outlined in this Report.

The description should include both the technology and dataset requirements for:

• Molecular genetic and cytogenetic laboratory test management, reporting, research and development.
• Operation of clinical genetics services, including scheduling of clinics and call-recall, support for intra-family linkages and the generation of summaries for non genetics care services.
• Support for information exchange among clinicians and researchers, including bio infomatics tools and access to databases where health history and genetic data are linked.
• Related work in England for Connecting for Health should be used to aid development of this description.

• Examine how the approach outlined in the e-health strategy can be tailored to deliver these functions. This analysis should explore to what extent issues of confidentiality, consent and security, and of handling family relationships, differ in genetics from other clinical specialities.
• Assuming that, in the interests of cost efficiency, maximum use will be made of facilities funded within the context of GHI and the joined up common systems to be made available through the e-Health strategy, assess the additional resources which will be required to fund the specific needs of the genetic services which will be above and beyond this provision.