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CHAPTER 6: DEVELOPMENT OF SCOTTISH SERVICES FOR GENETIC MEDICINE

Background

The aim of the specialist genetic services, which have been outlined previously, is to help those affected by, or those at risk of, a genetic disorder to live and reproduce as normally as possible (DoH 2002). ¹ Genetic disorders can affect all body systems and all age groups. Genetic services, therefore, need to interact and integrate with a wide spectrum of other specialties and require the training of the clinical geneticist to be very widely based.

To date, clinical application of advances in genetic knowledge has been mainly focused on single-gene and chromosomal disorders and has been largely undertaken by the four Scottish regional genetic services. Growing recognition of the contribution made by genetics, together with the increasing simplification of many of the testing technologies used is leading to their adaptation and use in an increasing number of fields of clinical and laboratory medicine. Thus, many of the activities which would previously have been considered the domain of specialist medical genetics, are progressively becoming part of mainstream medical practice. The activity of regional genetic centres needs to be developed and integrated with developing parallel interests in the use of genetic tests to determine individual predisposition to more complex but commoner forms of disease, to determine individual prognoses in these diseases, to tailor existing and new forms of therapy and to aid characterisation of infectious diseases. This broader definition of the application of genetics is termed genetic medicine and is relevant to all branches of medicine.

Regional genetics services have been developed throughout the UK over the past 30 years. Each serves a population base of 1-3 million and combines, ideally under the same roof, the clinical genetics team who are involved in genetic assessment and counselling, and the genetic diagnostic laboratories for cytogenetics and molecular genetics. National newborn and regional pregnancy screening services are also closely aligned with, or in some cases delivered from within, regional genetics services as in Scotland. Initially, the main sources of referrals to clinical genetics were paediatricians and obstetricians, but the scope has widened in recent years to embrace all specialties including a significant proportion from Primary Care. The role of the clinical geneticist will need to broaden to embrace this change and this needs to be accompanied by measures to increase the awareness of the role of clinical geneticists particularly in specialties which traditionally have not utilised these services.

The inevitably limited number of specialist clinical geneticists means that it will be vital for those practising in other specialties to receive appropriate education and training in genetics in order to enable them to use the advances in genetic knowledge and technology applicable to their own field of practice. Inevitably there will remain complex areas best handled by specialist geneticists, but other areas, particularly those involving common disorders, will need involvement of all clinicians. This will enable the core clinical genetics services to concentrate on providing expertise for complex and less frequent situations, to set standards for the growing numbers of other practitioners less familiar with the practice of medical genetics and most importantly, to be the primary source of educational programmes and of research and development in order to support the development of this wider field of genetic medicine.

The radical changes that are currently occurring in specialist and post-graduate medical education and training could provide the ideal opportunity for devising ways in which genetics could be more fully incorporated into the training of all doctors.

Cross-fertilisation between clinical genetics and other specialties could be further encouraged by routine rotation of doctors in training from other specialties, especially primary care, general medicine, oncology and psychiatry into clinical genetics. This experience in genetics could come either as formal rotations or as "taster" modules within the Foundation Programme. There might also be combined training opportunities, for example in relation to pharmacogenetics for clinical pharmacologists, in cancer genetics for oncologists and in other specialties ( e.g. cardiology, neurology).

The Group is aware of current discussion between the genetics centres in Scotland about a proposal that short training modules should be provided for SpRs in clinical genetics in Scotland, intended to provide special experience for SpRs wanting to develop a special interest, or to fill gaps in their training quickly. As part of taking this proposal forward, a 2 to 3 month training module, offering experience in adult and paediatric cardiovascular genetics, has already been drafted by Consultants in the genetic centre in Aberdeen. By adapting this model, the development of similar modules by other centres or those with primary interests in other clinical specialities, could be built into a training scheme for Scotland, allowing trainees to obtain sub-speciality experience, while taking into account Scotland's geography and trainees potential family commitments.

As a means of enhancing education in genetics across the medical workforce, the Review Group, recommend that NHS Education for Scotland ( 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.

The educational and training needs of clinicians, in order to enable them to integrate genetics into their every day practice, are addressed further in a future section of this report.

Some aspects of the Scottish genetics services are well resourced and provide 'gold standard' services but the misconception that this applies to all areas of these services is clearly evident in the following discipline by discipline analysis.

Clinical Genetics Services

The largest regional genetics services in the UK deal with population bases approaching 5 million. This is, however, only possible with a high population density. For Scotland, where some 20% of the population live in rural areas, the existing four centres provide equity of access for the Scottish population by hub and spoke models with satellite clinics. After discussion the Review Group considered that centralisation to a single site would not be an advantage. However, there would be a gain in moving to national coordination and management of the clinical genetics service across Scotland. This would necessitate common IT platforms and information sets and the development of appropriate IT links. National management would require a steering committee with a lead clinician.

The Group, therefore, recommend that the four centre model of clinical genetics services with central and satellite clinics should be maintained to ensure equity of access for the Scottish population and that the Scottish Executive Health Department ( 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 access Scotland, and the development of the necessary common IT&M platforms, information sets and IT links.

Creation of new posts in clinical genetics currently has to occur at a local level and this is a major disadvantage when a post with a regional remit is competing for funds against local priorities. This situation will be substantially worsened when the EU Working Time Directive takes full effect, which will have a particular significance for the provision of satellite clinics at a distance from the genetics centres. Central or nationally coordinated funding would help to overcome this problem and to facilitate the development of posts with the type of pan - Scotland remit discussed on pages 43-44.

The 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.

The Review has identified that workforce levels for these services are inadequate for current demands ( Appendix 4) and this results in unacceptable waiting times and limitation of service developments.

The Group therefore recommend 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.

Recruitment to the specialty is not a problem. Clinical genetics continues to attract a surfeit of highly qualified potential trainees and there is a strong demand for genetic counsellor posts from biomedical scientists and nurses. There is, however, a need for a strengthened and expanded Scottish training programme for genetic counsellors. This issue is addressed in a later section of this report.

Support staff, including secretaries, clerical staff, database managers and genetic register staff are crucial for the functioning of a genetics service. No Scottish centre is fully staffed in this respect and this leads to marked inefficiencies such as consultants and genetic counsellors having to devote time to support activities, as well as to waiting times for appointments lengthening.

Rectifying the shortfall in workforce levels will be vital if the service in Scotland is to be able to meet Quality Standards equivalent to those developed by GenCAG and against which the services across the other parts of the UK are being bench-marked.

In addition, space is an issue for the clinical teams in each of the four centres and as indicated earlier there is a disadvantage if the clinical teams are separated in part or in whole from the genetic diagnostic laboratories.

The expanded role of clinical geneticists will occur as a natural progression from existing involvement in combined specialist clinics for diagnosis and care. Clinical geneticists should be involved in all relevant managed clinical networks and appropriate multi-disciplinary care meetings, as this will allow face to face interaction and interchange. This is not possible with existing staffing numbers. Historically, clinical geneticists have often taken on the role of coordinating multi-disciplinary care for patients with multi-system genetic diseases. This role is severely constrained by existing staffing numbers, and the management and support of such patients would be greatly facilitated if the creation of Genetic Care Coordinator Posts and the Tayside model for the involvement of GPs in shared care, as discussed below, were to be taken forward.

With such a wide spectrum envisaged for the role of the clinical geneticist, development of sub-specialist interests is seen as inevitable. We also envisage a trend towards a geographical responsibility for individual clinical geneticists in respect of their general genetics workload.

The development of sub-specialist interests in clinical genetics could, however, be seen as a positive benefit for the delivery of a comprehensive and equitable service across a country with a population the size of Scotland's. Even the genetic disorders most commonly seen by clinical geneticists such as muscular dystrophy and Huntington's chorea are not individually common conditions. Thus, the number of patients seen by any one of the four regional genetic centres in Scotland could not justify the employment of a dedicated clinician with particular expertise in that clinical area. However, the appointment of a clinical geneticist with a specialist expertise, with a pan-Scotland responsibility, could be a very effective way of providing an equitable, expert service to a group of patients with a particular genetic disorder.

The Review Group is aware of a joint proposal put forward by the Glasgow and Edinburgh genetic centres for the joint appointment of a clinical geneticist, who though based in these two centres would have a pan-Scotland remit and provide a 'hub and spoke' model of service for patients with inherited neuromuscular disorders across Scotland. This is an example of exactly the benefits such an approach could bring. The Review Group were very impressed with this proposal. Not only could it provide a model for future posts, e.g. endocrine-genetics and cardiology genetics, but also provides an ideal model of how genetics can be integrated effectively and constructively with other clinical specialties with a specialised clinical geneticist working alongside colleagues in other fields enabling the application of modern genetic knowledge and the use of appropriate up-to-date genetic laboratory diagnostic testing.

The Review Group were impressed with the proposal put forward by Glasgow and Edinburgh for the joint appointment of a clinical geneticist with specific expertise in neuromuscular disorders who would have a pan-Scotland remit to 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 neuromuscular 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 neuromuscular disorders for Scotland can be found in A ppendix 5.

Should this demonstration project be successful, ways of collaborately funding the continuation of this post should be explored by NHS Boards and Regional Planning Groups. Such a move would be facilitated by the national level coordination of funding for clinical genetics services as we have recommended above.

Clinical geneticists need to interact with a wide variety of disciplines. The general practitioner is involved in every instance, often as a source of referral and always in on-going care. As we discuss in a subsequent Chapter there is the possibility to expand the role of the general practitioner and we envisage that genetic counsellors will have a key role to play in this respect. Again this involvement can only occur once the current staffing deficit is resolved and the number of genetic counsellor posts expanded sufficiently to enable them to undertake this important role, as well as play their part in expanding the capacity of the specialist genetic services. The role and needs of primary care are discussed in greater depth in Chapter 7.

Patient Support Groups and the Needs of Families with Chronic Single Gene Disorders

Patient support groups can play a very valuable role in both producing patient-friendly information on genetic disorders and through the provision of family care officers or Advisors, helping to strengthen the support for patients and families in their home by complementing that provided by the statutory authorities.

In any review of Genetic Services it is essential that the needs of families with long term single gene disorders are not overlooked. Although each individual disorder is rare, as a group, single gene disorders affect 2-3% of the Scottish population.

There is a long-standing history in Scotland of the involvement of the clinical genetics services with patient support groups such as those for Huntington's disease, muscular dystrophies, tuberous sclerosis, and neurofibromatosis ( NF). Not only is this association in relation to research interests, but also in the provision of support and services to the affected individuals and their families. Historically, Advisory posts, often funded through charities, have been based in Genetics Centres and have provided invaluable support to families and liaison with primary care, social services and the hospital sector. Financial constraints have led many charities to withdraw such posts. In Scotland the services of the NF support officer for the Central Belt have been lost and the hours of the Muscular Dystrophy Advisors reduced with a possibility of complete withdrawal of posts.

Patients with complex multi-system genetic disorders frequently are heavy users of the NHS. If the services provided are not integrated then optimizing the outcome for the patients will be at best difficult. The delivery of the separate components of a care package in a logical, coordinated way not only ensures that patients are likely to access the specialists that they need to in a timely and appropriate manner, but also that they are able to make good use of the interventions on offer because they are delivered in a logical, accessible and timely manner.

Families affected by these rare genetic conditions often experience additional problems arising from the organisation and delivery of NHS Services that make access to appropriate health care and support more difficult to secure than it needs to be. As a consequence of the small numbers affected by any one disorder, expertise in the diagnosis and management of a specific condition is scarce, and normal community or District General Hospital based services are often not able to provide speedy, accurate diagnosis or an integrated, holistic appropriate package of intervention and support that will give the best chance for the patient given the limitations imposed by the condition and the possibilities for intervention currently available.

Whilst specialist diagnosis, assessment and treatment are central to genetic care, this needs to be embedded within the overall packages of care that are needed to meet the wider health and social care needs of people with genetic conditions and their families. As such, this care goes beyond the scope of the clinical genetics service.

Many, if not all, of these wider services should be provided through the auspices of the Community Health Partnerships ( CHPs). These local structures are potentially ideally placed to organise and manage the wider health care needs of people with chronic genetic conditions in the Community in the way envisaged in the Kerr Report. In addition, many people with chronic genetic conditions need the active support of social and community care colleagues. Whether these services are provided directly, or through services commissioned from the voluntary or independent sector working closely with local authorities, to provide this care will be vital. Ensuring that the needs of people with genetic conditions are fully integrated into the holistic approach that underpins the Joint Future agenda will be vital to ensuring that overall care is most effectively managed and delivered. Genetic Care Coordinators working within or alongside the clinical genetics services could play a vital role in facilitating effective liaison and supporting the assessment and development of such holistic care packages.

As a reflection of the difficulties experienced by families with "their" condition, many patient support groups have invested considerable sums of money (derived from the voluntary fundraising efforts of their members, most of whom are directly affected) in providing a range of services and support. At the most basic level this can be a volunteer help-line dispensing practical advice and information. Other groups have sophisticated networks and employ professional staff. This investment, built as it is on voluntary income is increasingly proving unsustainable, and many charitably funded services are proving increasingly frail.

To address this there needs to be a strategic investment at National level in the development of an appropriate range of models for the commissioning of integrated specialist services for families with rare disorders. Such a mechanism would have considerable benefits:-

• It would deliver integrated, effective and appropriate care to patients.
• It would legitimise trans-speciality collaboration and logical ordering of interventions and support.
• It would incorporate and strengthen appropriate patient support group developed services thereby enhancing quality and securing continuity.

It has been proposed that a way forward to initiate the development of such services and to sustain them, could be by the appointment of 1-2 Genetic Care Coordinators per million population served (bearing in mind geographical constraints). These individuals would provide services for a range of complex single gene disorders depending on the needs of the population served by a particular Genetic Service. Examples would include NF, Ataxias, and Muscular Dystrophies. A document prepared as part of our consultation by John Eden from Scottish Huntington's Association details the model already used in Huntington's Disease which could be applied. This comprehensive document can be found in Appendix 6.

It has been estimated that the approximate cost of such Genetic Care Coordinator posts (to cover salary, travel and support costs) is in the region of £35K per post per annum.

Co-funding between NHS Boards and Charitable organisations could be considered. Initial discussions with both the NF Association and the Muscular Dystrophy Campaign have received a positive response.

The establishment of such posts, in collaboration with the voluntary sector and working in close partnership with other agencies within the CHP environment, including Physical Disability Services (and appropriate Managed Clinical Networks) within NHS Boards, would be a prime example of the model of service development advocated in the Kerr Report and the Patient Focus and Public Involvement Agenda.

Careful consideration would need to be given to the location and appropriate management and reporting arrangements for such wide ranging posts. However the Review Group consider that the potential benefits that such arrangements could bring to the overall care and support of families with long term genetic conditions in the community, merit active consideration being given to the feasibility of establishing Genetic Care Coordinator posts.

The Review Group therefore 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 ¹² 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.

Cytogenetic Services

Chromosome analysis using microscopy was the original diagnostic genetic test. It has a wide variety of indications but these can broadly be divided into pre-natal tests, post-natal tests and cancer cytogenetics. The workload for the former two groups is relatively stable but the latter is expanding as the prognostic information it provides is better understood. At present most cancer cytogenetics relates to haematological malignancies, but its role in solid tumours is expected to markedly increase and be linked to parallel developments in molecular pathology.

As described earlier cytogenetic services for Scotland are provided by five laboratories, one based in each of the four regional genetic centres and one in Inverness. Proximity to the clinical genetics services is a priority for cytogenetic services and thus the present arrangement is supported by the Review Group.

The Group concluded that centralisation to a single site would not be an advantage, but that there would be a gain in moving to national coordination and management of the service across Scotland to ensure equitable distribution of expertise and resources. This would necessitate common IT platforms and information sets and the development of appropriate IT links. Such national coordination and management would require a steering committee similar to that which oversees the work of the Scottish Molecular Genetic Consortium.

The Review Group therefore 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 data sets with appropriate IT links.

The Review has demonstrated that workforce levels for these services are inadequate to meet current demands ( Appendix 7) and this results in unacceptable waiting times and limitation of service development.

As indicated in Appendix 7 new additional recurrent funding of £350K is required to rectify the shortfall in current staffing levels, and bring them up to recommended levels for the profession.

Again, creation of new posts in cytogenetics currently has to occur at a local level and this is a major disadvantage when a post with a regional remit is competing for funds against local priorities. A move to national coordination of the budget for cytogenetics services across Scotland would help to overcome this problem.

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

Such a move would be in line with the proposals in the Kerr Report ¹² for the national coordination and management of specialised laboratory services, which are delivered on more than one site and would facilitate the type of rationalisation of the service described below.

Investigation has shown that capital investment is required to bring the Scottish cytogenetic service up to the new standards proposed for the other UK services. Not all centres have access to modern image analysis, which can now largely replace the individual use of microscopes. A linked digital image analyser with high through-put automated metaphase finder would assist analysis greatly, with karotyping being performed at a computer workstation. This would create an efficiency in analysis and also provide for the potential of greater skill-mix within laboratories, whilst also allowing the electronic documentation and storage of all images and relevant information (necessary for clinical governance). The other major added benefit of this would be in allowing the networking and transfer of images and information between centres thus further improving the diagnostic output and permitting the sharing of expertise so improving the quality of the service to patients across Scotland.

In order to modernise the laboratories and improve efficiency automation of the harvesting procedure (in laboratories with appropriate through-put) is required. Automation of molecular genetics tests and micro array analysis is also required. It is foreseen that this would be based in three centres but provide a nation-wide service. Again this would need to be a high through-put facility dealing with the up-take and future application of this technology. The Group estimate that non-recurrent capital investment of £1.4 million will redress the shortfall which now exists between cytogenetic services North and South of the Border. An annual rolling budget for equipment replacement would enable the laboratories to maintain the situation once upgraded.

The Group recommend to the SEHD that £1.4m non-recurring capital funding is made available to re-address the current status of the 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.

The Group are aware that in addition to the need to increase the number of nationally funded Grade A trainee positions in cytogenetics a considerable pressure on the cytogenetic services over the last few years has been the inability to recruit trained staff into substantive posts. This has meant that laboratories have had to recruit trainees into such posts with the added burden of a commitment to complete their training.

It has been suggested that the creation of a cytogenetics training officer post would help to alleviate these pressures. Such a cytogenetics training officer could have a remit covering both Grade A training and higher specialist training in Grade B, as well as technical grade training. This would alleviate a large proportion of the burden of teaching and training which currently falls on the individual laboratory staff. However, the Group is aware that these problems are not unique to cytogenetics laboratories, but are pressures which affect all laboratory disciplines. Indeed we understand that the creation of training officer posts is already a feature of the current discussions taking place in relation to the modernisation of clinical scientist training schemes in Scotland. It therefore seems more appropriate for the training problems of cytogenetics to be addressed alongside those in related laboratory services rather than in isolation.

The Review Group therefore recommend 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.

Molecular Genetics Services

Molecular genetic diagnostic services were introduced in Scotland in 1985, as a Consortium of four laboratories based within the existing Scottish regional genetic services, in view of the importance in being co-located with the clinical genetics services. The Consortium was first established on New Developments in Healthcare funding from the then Scottish Home and Health Department and later became adopted formally as a National Service which is commissioned by the National Services Division ( NSD) of NHS National Services Scotland, with central funding. The Review Group are confident that the model has worked well, providing an effective, cost efficient and equitable service for Scotland and there have been clear advantages in such a fast moving field to have central funding and coordination.

Mechanisms exist to respond to new demands and the Group has become aware that the main difficulties relate to space constraints, rapid obsolescence of equipment and under-capacity for large scale genotyping to deal with backlogs as well as current demands for mutation analysis in large genes. The technology is expensive and particularly rapidly developing in this area. Leasing is being increasingly explored as an alternative to purchase, as in all laboratory disciplines.

A regular annual budget for equipment replacement would aid the Consortium laboratories to take advantage of rapid developments in the field. 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 Scottish Executive how this important budgetary change may be achieved.

Access to large scale sequencing facilities is essential to avoid undue waiting and reporting times for large gene analyses. In consultation, the Review Group concluded that rather than the development of a single dedicated facility for the four Consortium laboratories to use, the development of a pan-Scottish resource as proposed in the Genetics Health Initiative ( GHI), would provide the Consortium with the means of dealing with backlogs as new large clinically important genes are identified, whilst avoiding unnecessary routine over-capacity. The Group were pleased to hear that funding has now been made available for this development under the aegis of the GHI and that the facilities provided by this significant investment in genetic laboratory equipment are available for the NHS diagnostic laboratories to use to support their services as required.

When the Consortium was first proposed, it was envisaged that the number of molecular genetic tests done in Scotland would rise initially and then plateau as the families with genetic disorders in Scotland were ascertained and investigated. However, rapid advances in genetics, with the identification of an increasing number of disease-causing genes, has led to a year upon year rise in the number of DNA tests done in the Consortium laboratories. The situation has been greatly exacerbated by the introduction of rapid testing for chromosomal anomalies by QF- PCR, into the pregnancy screening service. These tests significantly contribute to the 350% increase in prenatal tests done by the laboratories in the last 3 years.

However, this huge year upon year rise in activity in molecular genetics has been accompanied by a lesser increase in resources. Over the last 3 years alone, Consortium funding has increased by 24% (including inflation) while over the same period, DNA analyses have risen by 49% and patient reports by 42% (this on top of considerable efficiency gains from 1997 - 2000). An impressive example of efficiency and increased productivity within an NHS service.

Without doubt therefore the centrally funded Consortium arrangement of the molecular genetic service in Scotland has been a great success and enabled the provision of what many consider to be a model service for the Scottish population. Indeed, the Kerr Report ¹² cites the SMGC as the best current example of what they conclude is the ideal way to provide highly specialised pathology services for Scotland i.e. through managed national provision from one or more centres. The Review Group strongly recommend to the SEHD that the 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.

Accommodation

Problems caused by space constraints have been a recurrent theme in our assessment of each of the elements of the specialist genetic services, clinical, molecular and cytogenetics, and the issues occur in all four Scottish genetics centres. Even though the staffing of the SMGC laboratories is centrally funded, space is a local issue and again this has been disadvantaged by having to compete with other local priorities within the host organisations. The issue is important, and space constraints have been a common reason why the Scottish laboratories have faced problems in relation to acquiring the CPA Accreditation which is an essential requirement for diagnostic laboratories.

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.

Genetic Screening Services

An outline of these services appeared previously in Chapter 5.

Newborn blood spot screening for all babies born in Scotland is provided by a single laboratory in the Institute of Medical Genetics in Glasgow. The laboratory component of the Scottish Newborn Screening Service is centrally funded, commissioned and managed by NSD. Its remit and policy are determined by SEHD, on the basis of advice from the National Screening Committee. This arrangement has been highly advantageous in the delivery and development of this service. Centralisation of testing maximises the use of expensive, dedicated laboratory and IT&M equipment and introduces economies of scale through bulk purchase of reagents and consumables. It also allows new screening tests, e.g. for cystic fibrosis ( CF) to be developed and introduced in an efficient and equitable way. The implementation of screening for CF has been greatly facilitated by the close proximity of the molecular genetics laboratory and the clinical genetics service, which are vital for a fully integrated screening and diagnostic programme. This arrangement will also be of major benefit when new screening tests for other single gene disorders (sickle cell disease, ( SCD) and medium chain acyl CoA deficiency, ( MCADD) are introduced, probably within the next two to four years.

Expansion and modernisation of the service has required the purchase and use of tandem mass spectrometry ( TMS), a relatively new technology which is being increasingly used for the delivery of some of the components of newborn screening. The requirements for additional laboratory space, instrumentation and scientific and support staff are currently being addressed by NSD. Although funding has been identified already for the purchase of a TMS, additional funding may be required for the other necessary developments.

The centrally located, funded and coordinated newborn screening service has served Scotland well and the Review Group recommend 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.

The regional pre-natal screening service for Down's syndrome and neural tube defects in the West of Scotland is co-located with the newborn screening service in the Institute of Medical Genetics in Glasgow and provides a service for 60% of the pregnant population in Scotland. A new state of the art, common IT platform installed in 2005 will allow close links to be established between antenatal and newborn screening and will underpin the further development of both screening services. The laboratory location within genetics places the pre-natal screening service adjacent to the regional molecular and cytogenetics laboratories, fetal medicine department and clinical genetics service with major advantages for the delivery of the screening programmes.

Screening tests for the remainder of the Scottish pregnant population are provided by three clinical biochemistry laboratories located in Edinburgh, Aberdeen and Dundee. Links between the four screening laboratories are informal and there is diversity in the way in which screening is delivered. Detailed consideration needs to be given to individual laboratory screening workload in relation to the standards specified by NHS Quality Improvement Scotland ( QIS) and the National Screening Committee, which favour laboratories with large workloads and a significant through-put of abnormal pregnancies to maintain expertise, to QA the screening service and to provide a viable base for research and development. Although there is a move towards central coordination of this screening programme by NSD in line with the recommendations of the National Screening Committee, present funding is through cost recovery by each laboratory's host Health Board. This compromises service delivery and development through, for example, lack of centralised purchases of reagents and an inability to standardise screening methods without uneconomic multiple purchases of common instrument platforms. Adequate audit of the screening service is also complicated by multi-centre testing and compromised by lack of support staff.

To ensure a robust screening service, laboratory workload must meet the recommendations of the National Screening Committee for through-put of abnormalities and consequently the Review Group consider that some rationalisation of the laboratory service may be required in order to achieve this.

The present arrangements for pregnancy screening are delaying the introduction of improved tests, already offered by the Glasgow laboratory, which are needed to meet NSC standards and to implement the recommendations of the NHSQIS Report on Ultrasound Scanning in Pregnancy. This has resulted in the inequitable provision of pre-natal screening services across Scotland. For this reason SEHD commissioned NSD to carry out a review of the current service, and their Report is currently under consideration.

When the outcome of the NSD review are known, funds should be identified to enable implementation of the recommendations with respect to the laboratory pregnancy screening service.

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.

Patients whose pregnancies are found, on the basis of the serum screening tests, to be at an increased risk of Down's syndrome and other autosomal aneuploidies are then offered a diagnostic test (amniocentesis or chorionic villus sampling). In contrast to the antenatal serum screening service, the antenatal molecular genetic diagnostic service for chromosomal disorders is nationally coordinated and in part is centrally funded. A two-stage diagnostic procedure is offered to all Scottish patients whose pregnancies are found to be at high risk. QFPCR is performed in the local consortium molecular genetics laboratory to provide rapid diagnosis or exclusion of autosomal aneuploidies and this is followed by exclusion of more subtle chromosomal abnormalities by cytogenetic analysis in the local cytogenetics laboratory.

Services for Paediatric Metabolic Biochemistry

In addition to the more common, and better known inborn errors of metabolism, such as phenylketonuria ( PKU), there are a large number of monogenic, inherited metabolic disorders which can present in infancy. Individually the disorders are vanishingly rare, but because there are a very large number of them the total incidence is significant and within Scotland more patients are diagnosed with a variety of these disorders each year, than are diagnosed by newborn screening for PKU. Most of these disorders are diagnosed by biochemistry rather than mutation analysis and are thus diagnosed by paediatric biochemistry laboratories or sub-sections of general clinical chemistry laboratories in Aberdeen, Dundee, Edinburgh and Glasgow.

Because of the rarity of each individual disorder there is a need for 'screening' (although not necessarily simple or automated) investigations in a highly selected group of patients who present with suggestive symptoms or signs. Such investigations test a range of metabolites or enzymes using complex techniques such as Gas Chromatography - Mass Spectrometry, High Performance Liquid Chromatography ( HPLC), Tandem Mass Spectrometry, or enzyme analysis by fluorimetric, colorimetric or radioactive techniques, as a first level investigation to identify patients with a particular group of disorders. Further investigation to fully characterise the disorder and investigate the patient's wider family may be carried out by enzymatic or mutation studies. Because these disorders are individually so rare, enzyme or DNA mutation investigations commonly have to be referred outside the UK. The investigation of patients for such disorders is staged. Within Scotland the Paediatric Biochemistry Departments in Edinburgh and Glasgow Sick Children's Hospitals carry out the widest range of investigations in collaboration with the local clinical and molecular genetic services.

Edinburgh and Glasgow are part of a UK-wide 'metabolic network' that consists of the 16 UK laboratories that perform these specialised tests. Twelve of these laboratories, based in England have been recognised as forming a significant part of genetic commissioning. Through GenCAG, funding has been put in place for these laboratories to strengthen clinical scientist training arrangements in order to underpin succession planning in the service. Electronic learning and a directory of biochemical metabolic analyses within the UK, are other initiatives that have been led by this Network.

Even when newborn screening in Scotland is expanded to include screening for other metabolic disorders by tandem mass spectrometry, and sickle cell anaemia, the majority of patients with serious inherited, monogenic, metabolic disorders will not be diagnosed by the newborn screening programme. In addition, the paediatric metabolic laboratories will be required, as at present with PKU, to carry out additional testing to fully characterise some disorders. This is certainly the experience of the English TMS newborn pilot sites. Despite efforts to focus screening on fatty acid oxidation disorders, especially MCAD (medium chain acyl CoA dehydrogenase deficiency), there are a number of unusual patterns that require further investigation by classic organic acid analysis, and other paediatric metabolic biochemistry tests prior to or as well as mutation analysis. This work is complementary to that carried out by newborn screening, and is essential to characterise disorders, allow investigation of siblings and allow genetic counselling of families.

The Review Group recognise the importance of the Scottish Paediatric Metabolic laboratories being able to share in and contribute to UK-wide efforts to provide these services in the future and appreciate that the current funding arrangements mean that the Scottish laboratories are significantly disadvantaged in comparison with those in England. The Review Group, therefore, recommend that SEHD ensure that funding is identified to allow the paediatric metabolic biochemistry service in Scotland to develop alongside it's genetic counterparts in Scotland, and put it on the same footing as their counterparts in England. They are pleased to note that a review of these services is already underway in Scotland and will provide an assessment of the optimal way of providing these services in the future and of the funding that will be required to achieve these aims.

Molecular Diagnostic Laboratory Services for Genetic Medicine

Molecular genetic diagnostic techniques are already used elsewhere in the Scottish NHS. This includes in virology, haematology, pathology, microbiology (especially reference laboratories), immunology and clinical biochemistry. In contrast to the Scottish Molecular Genetics Consortium these other specialties have several disadvantages. With the exception of the microbiology reference laboratories, they are not centrally funded and the service posts are often short-term and grant funded. They lack training posts for new scientists and technicians and have non-existent career structures. Quality assessment is fragmentary and provision of service lacks equity for the Scottish population.

The current arrangements leave the NHS in Scotland vulnerable to ad hoc service developments as new technologies come on-stream, resulting in wasteful duplication of what are on the whole small-scale services. The Review Group, therefore, consider that central coordination of molecular diagnostic services, and the developments that will occur in them, would be a clear advantage. This would lead to a more equitable distribution of service and a more effective and efficient use of scarce resources. It is envisaged that these services will fall into three broad groupings: infectious diseases (incorporating virology, microbiology and mycology), tumour diagnosis (incorporating haematology and pathology) and inherited predisposition (incorporating molecular genetics, immunogenetics, pharmacogenetics and clinical biochemistry).

The Scottish Molecular Genetics Consortium could provide the model for each of the groupings which could be guided in their activities by appropriate User Groups. Interactions would be facilitated by the development of appropriate IT links and common IT platforms and information sets. The establishment of a single overarching coordination mechanism would allow developments within the three broad groupings to be coordinated across all the specialties. It would be vital that appropriate cross links are established between the Networks in order to enable the important, informative, dialogue between specialities to continue. Careful coordination with the developing MCN for pathology will also be important. Such developments would be in keeping with the ethos of the proposals in the Kerr Report ¹² for Managed Diagnostic Networks for specialised laboratory services.

Co-location of groups with cognate interests or groups sharing expensive equipment would be determined at local level. Centralisation to a single Scottish site or even a single regional site would reduce direct interactions between the laboratories and their clinical users and associated laboratories ( e.g. diagnostic histopathology and molecular pathology).

The Review Group, therefore, recommend that the Scottish Executive Health Department undertake a strategic overview of 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 3 categories - infectious disease, tumour diagnosis and inherited pre-disposition. The SMGC would be the ideal model for the arrangements for each of the groups. It will 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.

Training of Scientific Staff

There are training implications for undergraduates and postgraduates in all branches of medical science if the Scottish population is to fully benefit from advances in genetic medicine.

There is a recognised problem with the recruitment, training and retention of Biomedical Scientists across the laboratory disciplines. The situation is exacerbated further by the considerable investment in specialist laboratory services in England, which is already putting pressure on services in Scotland by making it increasingly difficult for Scottish services to recruit and retain the skilled clinical scientist staff required. In addition as we have already highlighted the lack of training posts and a career structure hamper the development of molecular diagnostic services.

There will be a need for the establishment of securely funded training posts to meet the staffing requirements of the laboratories as these developments take place. A common set of core competencies for training posts in all the disciplines could be defined so that trainees undertook standard basic training in molecular techniques and then moved on for a period of specific training to achieve expertise in the field of their chosen employment. The Review Group appreciate that this proposed training programme may overlap with the existing Grade A/B training scheme in molecular genetics, and recommend that 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.

NES is emerging as a body which could perhaps in the future coordinate biomedical scientist ( BMSc) training in Scotland, in collaboration with the Biomedical Scientist Modernisation Board. NES currently provides the support for the BMSc Board and hosts the website for the Healthcare Scientists forum. The BMSc Board is reviewing ways forward with this group of the Healthcare Scientists. The eventual aim is development of training for BMSc that includes workplace placement, and enables graduation to coincide with requirement of HPC registration.

Similar initiatives are likely to develop for other healthcare scientists. However, further discussions are needed with the professional bodies concerned, including the Royal College of Pathologists and the Institute for Biomedical Science, before firm proposals can be put forward. The Scottish Forum for Healthcare Science ( SFHS) has been formed by the professional bodies to support the introduction of Healthcare Scientists, and the development of career pathways for them in Scotland.

The Review Group are aware that these issues have already been brought to the attention of SEHD and that they have also been highlighted in the Kerr Review ¹². They are 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, they recommend 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.

For a description of the current position and the proposals under discussion for the establishment of higher specialist training in Scotland see Appendix 8.

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