Background to Network Formation

In April 2001 the Secretary of State for Health announced a commitment to place genetic services in the NHS at the leading edge of international development. The detail of this statement included an undertaking to increase the number of consultants, scientific and technical staff and genetic counsellors, and a doubling of test numbers by 2005. In July of that year, the laboratory services for Inherited Metabolic Disorders (Metabolic Biochemistry) were included within the Medical Genetics Definition set 20, and consequently became part of the specialised services genetics commissioning arrangements overseen by the National Genetics Commissioning Advisory Group (GenCAG).

At the same time there was a growing recognition that the laboratory services for metabolic diseases were under increasing pressure, the chief concerns being:

• "The increasing workload and repertoire of metabolic biochemistry tests, and the increased expectation/demands for service including availability outside normal laboratory working hours
• Poor recruitment of clinical scientists
• Lack of a national training plan for clinical scientists in this speciality
   

 Difficulties in maintaining a robust service in some centres due to inadequate trained staff and/or equipment needs.

These concerns were exacerbated by the lack of a robust manpower plan; despite the anticipated retirement of several senior scientists within the next five years few plans appeared to be in place to recruit and train additional staff for succession planning.

An application for funding to the Department of Health (DOH) to form a Network of laboratories providing these services was submitted. The plan in outline was to form a National Stakeholders group of laboratories whose major function was the provision of these services on a 'regional' basis. The stakeholder group would be co-ordinated by a "lead scientist" and would address the key issues. The Department of Health initially provided funds for the Network for a two year period (2002-2004). A further two years full funding has been provided up to April 2006 and some transitional funding for 2006/7 at the end of which the Network needs to become self-sustaining.

The Network

The Network is a group of specialist laboratories providing tests for the diagnosis and management of patients with Inherited Metabolic Disorders across the United Kingdom. The group comprises 17 stakeholder laboratories and 5 associate laboratories.

The Network was formed in October 2002 with funding from the Department of Health and is part of the NHS Genetics Services. These services are commissioned as NHS specialised services (definition set number 20).

Activities of the Network are co-ordinated by a Lead Scientist - Dr. Jim Bonham at Sheffield Children's Hospital with support from our Administrators Nickie Harries and Elaine Singleton, and is hosted by Sheffield Children's Hospital NHS Trust. See 'About us' for more details about the aims, background and current activities.

The Network has an assay directory to source laboratory testing services in the UK for specialist metabolites and enzymes for inherited metabolic disorders. There is also an active training and education initiative and best practice guidelines aimed to help local non specialist laboratories and clinical teams.

Comments/suggestions about the website should be directed to the Lead Scientist or the Administrator

Aims

The Network aims to provide the vision and national co-ordination needed to ensure that the specialised laboratory services for metabolic biochemistry grow and develop to meet the needs of the national genetics agenda. Links with the clinical metabolic and newborn screening services are particularly important so that an integrated and overarching national strategy for screening, diagnosis and management of patients with inherited metabolic disorders can be developed. The Network links with the British Inherited Metabolic Disease Group, the UK Genetics Testing Network for DNA/Molecular based tests and the UK Newborn Screening Laboratory Network.

• Provide a baseline assessment of current services including their scope, capacity, staffing and equipment.
• Perform a risk assessment of the robustness of current services with a view to developing risk sharing and back-up arrangements.
• Assessment of equity of access on a National basis.
• Undertake manpower planning for the specialty.
• Assess national training needs in collaboration with NHS workforce development organisations.
• Provide better information and advice to liaise with accreditation bodies.
• Plan testing for the very rare disorders to ensure National availability.
• Monitor the adequacy of existing EQA schemes and promote development of new schemes as needed.
• Promote best practice guidelines for investigation.
• Conduct/promote clinical audit.
• Promote teaching and education.
• Promote and co-ordinate research and developments in this area.
   

 The Stakeholder group comprises: Belfast, Birmingham, Bristol (2 labs), Cambridge, Cardiff, Edinburgh, Glasgow, Leeds, Liverpool, London (2 labs), Manchester (2 labs), Newcastle, Sheffield, Southampton. Other laboratories providing a narrow range of very specialist services are associate members. Stakeholders meet together once or twice annually and conduct most of their business by electronic mail.

CURRENT ACTIVITIES 

Current initiatives of the Network are:-  

Training and education

Lead Scientist, Dr. Mick Henderson with Local Trainers in Sheffield, Birmingham and London are developing a training syllabus for Grade A pre-registration clinical scientist trainees and planning the delivery of higher specialist training in metabolic biochemistry across the UK.

Eight new posts for clinical scientist trainees (higher specialist training) have been funded by the Department of Health as five year supernumerary posts which commenced in 2004/5. See the training and education page for more details.

Best practice guidelines

These are laboratory based best practice guidelines formulated by expert opinion i.e. they are not evidence based guidelines. They are aimed specifically for local laboratories and clinical teams needing help with what investigations to undertake in specific clinical circumstances. See best practice guidelines page for more information.

Metabolic assay directory

The directory was launched on 1st May 2005 and is accessed by either a test list or an individual laboratory. Stakeholder and associate laboratories input and update specimen details and test repertoire themselves with access via a user protective password. There are plans to link this with a disorder based entry system - this is currently work in progress.

Quality

The Network holds an annual workshop for Stakeholders and Associate laboratory members to discuss current QA schemes and specific quality initiatives. See quality page and quality archives for further information.

Workshops

Workshops are organised for scientific staff (clinical scientists and biomedical scientists) and medical staff working in the field of inherited metabolic disorders in the UK. Workshop archive is accessed by the training and education page and planned workshops are listed within the news section and also on the training and education sites.

National IMD Boards

Following on from the important Metabolic Pathways document produced by Hillary Burton two National multidisciplinary Boards have been formed to discuss the strategic implications of these findings and take forward proposals to review and implement the recommendations of the report. They are:

A professional IMD Board

Chaired by Prof Anne Green and including: G Besley, M Cleary, P Lee, G Shortland, J Bonham, H Burton, M Henderson.

A Commissioner led Board

Chaired by Dr Kieran Morgan and including: H Burton, J Armstrong, T Mann, S Mathers, S Hannigan, M Webster, P Lee, J Bonham, A Green, J Walter, F White, G Shortland, M Cleary, S Griffiths, S Watson.

Together these two Boards will assess the implications of the Metabolic Pathways report and prepare detailed recommendations for consideration by specialist commissioners before April 2007. Clinical IMD, the dietetic and laboratory testing will be considered as an integrated service. These recommendations will be presented to the National Specialist Commissioning group.

One of the recommendations likely to emerge is the formation of 3 or 4 Regional networks covering: Northern England, a Central zone and the South and some progress in this direction is already underway with several meetings of a putative Central zone grouping. These networks would conduct Regional baseline assessments and then consider how best to use the scarce resources available effectively and work with commissioners to develop the service in a planned way.

New Initiatives

Any suggestions for further initiatives or comments about this website are welcomed and should be sent to the Lead Scientist or the Administrator.