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British Inherited Metabolic Disease Group :: INHERITED
METABOLIC DISORDERS :: |
Contents Foreword Foreword Following a Workshop in the autumn of 2002 in London it was agreed that it was important to set out a vision for how we should start to improve the provision of services for patients with inherited metabolic disorders. Continuing debate, through a number of draft documents, and discussion has meant a long gestation until we have arrived at this final version. This document serves as a starting point and already other work is being considered to start to develop a more robust needs assessment of our services. This includes detailed work for commissioning services, for this individually rare, but collectively significant number of patients and conditions. I would like to thank all those who have helped in preparation of this document and in particular Prof. James Leonard (London), Dr Phillip Lee (London) and Dr Anne Green (Birmingham). Importantly I am grateful for comments and general support from various parent / patient support groups in preparing this text, in particular The Society for Mucopolysaccharide Diseases, CLIMB and The National Society for Phenylketonuria (UK). Because of the changing nature of services it is inevitable that there may be some factual errors and can I apologise in advance. The general direction of travel and recommendations described in this document are intended to start to provide guidance for the further development of services to improve patient care and outcomes. Dr Graham J Shortland 1. Summary of Service Development Requirements The lack of a coordinated approach and appropriate services for patients with inherited metabolic disorders throughout the United Kingdom is of extreme concern to the professionals involved in these services, the patients and carers. These problems lead to inequity of service and are particularly acute because of:
A clinical and laboratory network for patients with inherited metabolic disorders should be established to cover the whole of the United Kingdom. These will have:
All those in the network, would:
To achieve this it will be necessary to:
2.
Introduction Paediatric metabolic medicine is represented in the Royal College of Paediatrics and Child Health by the British Inherited Metabolic Disease Group and is a recognised sub-specialty of CESP (Confederation of European Specialists in Paediatrics, a section of UEMS). As the service is small and specialised, the United Kingdom needs to be considered as a whole. The organisation of the service should be based on the equity of the quality of the service and convenience, not historical geography. The historical development of services means that there is now an urgent need to create provision for a uniform and comprehensive multi-disciplinary service at a National level. The reasons for this concern are summarized as:
The service is almost entirely a tertiary one as these disorders are generally rare, most individual disorders having an incidence of less than 1 in 10,000 births. However so many disorders are now recognised that there is a considerable workload, which tends to be more concentrated in those areas with certain ethnic minorities because of genetic inheritance patterns. The scope of any metabolic service is rapidly evolving with increasing recognition of inherited disease; increasing patient numbers, better survival, and an increasing expectation of health service delivery from the public. There is a constant development of new treatments for adult and paediatric populations, including the recent development of enzyme replacement therapy for lysosomal storage disorders. Many are experimental and require close monitoring. Many diseases are multi-system requiring a holistic approach and
assessment by a wide range of specialist services including neonatal
and paediatric intensive care, cardiology, neurology, nutritional
teams and genetic services. These should be provided in a Regional
centre. Shared care with local services is also very important as
many of the patients may decompensate and need to be admitted locally.
The patients may need other local services such as those for patients
with disabilities. 3. Aims All patients throughout the United Kingdom with inherited metabolic disease should have access to specialist care of the highest quality. 4. Disease Definition 5. Review of Current provision and staffing for Services 5.1 Paediatric Consultant service The problems are clearly illustrated by a recent survey of Phenylketonuria, one of the most common disorders managed by this specialty (personal communication J Leonard). That showed that 104 units cared for a total of 2944 patients, some shared. Of these 77% attended centres that cared for more than 40 patients. However 75 centres look after less than 10 patients, some as few as one or two patients (table 2). There are considerable obstacles in addressing these inequalities and providing a specialist service. Paediatric Metabolic Medicine is now recognised by the EU (UEMS). There is a syllabus for training programmes and plans are in progress to recognise training centres in Europe. However national workforce planning in the United Kingdom severely handicapped by lack of information about plans for appointment of consultants and lack of training posts. As there is a worldwide shortage of specialists in this field there is little hope of being able to recruit from abroad. There are two training posts in the UK but this will not meet the needs and the establishment of an additional training site is needed. Smaller Regional centers may be able to provide comprehensive training by rotation and networking through different centers. To improve existing services networks should be established that would cover the whole country. There could be comprehensive outreach clinics and truly shared guidelines and protocols with a lead centre. The mechanics for funding of such managed networks would need to be clarified. Table
One
Table 2
5.2 Dietetic Service In the treatment of IMD patients an experienced dietitian plays an important role in the multidisciplinary core team. Dietitians hold a degree or postgraduate qualification in nutrition and dietetics. In order to practise in the NHS dietitians must be registered with their statutory regulatory body the Health Professions Council (HPC). The professional body is the British Dietetic Association (BDA). Both these bodies consider specialist knowledge, such as the dietary management of IMD, should be obtained at post-graduate level. Skills in the dietary management of IMD are mainly gained from workplace experience. As the specialty has grown there are more dietitians working single-handed in departments where there is little or no previous experience in IMD. Experience is generally only available in the major metabolic centres and dietitians at these centres provide advice, on an informal basis, to other dietitians for whom IMD management is not considered a specialty. Of major concern is the paucity of dietitians trained to deal with adult IMD patients. Paediatric dietitians at paediatric hospitals predominantly manage these. There is only limited formal post-graduate training in the dietary management of paediatric IMD and at present there is no formal training established for dietitians working with adult IMD patients and this needs to be addressed. The dietary management of IMD is complex. To provide a high quality service appropriately graded and numbers of dietetic staff are required. At present no published figures are available which estimate staffing levels to patient case load however a review of the North West service has recommended a figure of 1 WTE dietetic post to 140 patients with IMD (Service Framework For Children and Adults with Inherited Metabolic Disorders in the North West Region. March 2002). Currently there are 15 dietitians (13 paediatric, 2 adult) working across 15 centres in the UK. This equates to 14.5WTE and is inadequate to provide a comprehensive service to metabolic centres and the further advice to other smaller isolated units and district general hospitals. With the likelihood of more metabolic consultant appointments more specialist dietitians both paediatric and adult will be needed. IMD is a small but highly specialised area and collaboration between large centres and with smaller units is essential to help facilitate training, production of protocols and resources. Networking via e-mail has just been established within the dietitians’ sub-group of the BIMDG. 5.3
Clinical nurse specialists 5.4
Other Clinical Services 5.5 Adult Services Only 6 adult IEM services are presently identified in the UK, although few provide a comprehensive service as seen in paediatric centres. In a European questionnaire survey of services 3,797 adult patients with IEM were identified amongst 41 different centres. Improvements in screening programmes, diagnostic tests and therapeutic interventions have all led to increasing numbers of children with inherited metabolic diseases surviving through childhood into adolescence and adulthood. These individuals are often able to integrate into society, but many have complex, multi-system problems that require on-going care. Understanding of the long-term outcome of these disorders is scanty. Awareness of these conditions within the adult medical community is sadly limited and much of the good work of the paediatricians potentially could go to waste. This is often prevented by paediatricians remaining involved in patient care into the third decade and beyond. Appropriate resources to deal with the transition from the children’s services to the adult sector are necessary, and appropriately trained medical and dietetic personnel are required to run these services. An adult inborn errors service needs to have close links with a feeding paediatric unit, as well as integrate with other adult medical and surgical specialties, and be supported by metabolic biochemical and molecular laboratories. Training for Metabolic medicine had been agreed between the Royal College of Physicians and the Royal College of Pathology to include lipids, diabetic medicine, nutrition, calcium and bone and inherited metabolic disease. There are nine such accredited programmes currently approved in the UK with trainees in chemical pathology/ clinical biochemistry able to take this option. At present, just one adult internist is training in metabolic medicine. The IEM component of these programmes is relatively small but will hopefully attract some individuals who would wish to develop more expertise within this area. In addition medically trained biochemists should have a better appreciation of inherited metabolic disease. 5.6
Laboratory Services
Some
services are located in large teaching hospitals (clinical chemistry)
where there is a substantial clinical
paediatric component.
Wherever
they are located, they are usually linked with general Paediatric
Clinical Biochemistry.
It is becoming increasingly clear that whilst a traditional background in clinical biochemistry or a traditional background in molecular genetics is extremely valuable neither on their own meet the requirements for the future. This need is being emphasised by the inclusion of the inherited metabolic disorders and neonatal screening services under genetic commissioners. Clinical scientists are needed to maintain the interpretative and clinical skills of the biochemist and yet have a thorough understanding of molecular diagnostic techniques and the genetic implications of the results. Training posts and programmes need to reflect these needs. To facilitate these training and development needs a National Metabolic
Biochemistry Laboratory Network has recently been established under
the umbrella of GENCAG on a two-year project. The network is a focus
for laboratory service provision across the whole of the UK. It gives
a high priority to planning training, assessing risks and development
needs. There has been significant progress in the past two years.
The Department of Health for England agreed to fund eight higher
specialist trainee (HST) posts and three whole time equivalent trainer
posts dedicated to Paediatric Metabolic Clinical Biochemistry. Appointments
to all these posts were made during 2004. The HST appointments are
for five years and the trainers have three year contracts. The challenge
for the profession will be to identify funding to enable this level
of training to continue into the future and match the needs identified
by manpower assessments. 5.6.2 Future Laboratory Developments Current Screening Programme. Standards will be developed for the various stages in the Screening Process. These will help to pinpoint inequities of clinical support and opportunities for improvement. It is acknowledged that there are problems in regional specialist
commissioning arrangements for neonatal screening. This highlights
that there was a disparity between what was advocated at national
level and what was implemented at regional level. Extended Neonatal Screening. 6. Conclusion The lack of a coordinated approach and appropriate services for patients with inherited metabolic disorders throughout the United Kingdom is of extreme concern to the professionals involved in these services, the patients and carers. These problems lead to inequity of service. A clinical and laboratory network for patients with inherited metabolic disorders should be established to cover the whole of the United Kingdom. To achieve this it will be necessary to
This will require appropriate resources and recognition at National
level that this is an important clinical service.
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