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). Inherited Metabolic Disease has since been given its own Specialist Definition, Set 36 and is now awaiting developments with the establishment of the NHS Commissioning Board which will replace GenCAG in relation to commissioning activity.
At the time that the group was formed 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 its 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.
Some of these concerns remain although the initiative supporting HST posts has been very successful and has helped considerably
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 19 stakeholder laboratories and 5 associate laboratories.
The Network was formed in October 2002 with funding from the Department of Health. Activities of the Network are co-ordinated by a Lead Scientist - Dr. Jim Bonham at Sheffield Children’s Hospital with support from our Administrator Lynne Darwin, and are hosted by Sheffield Children's Hospital NHS Trust. 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 George Gray Content Webmaster, the Lead Scientist or the Administrator. They can be emailed from the ‘Contact Us’ link at the top of every page.
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.
IMD laboratories have an important role in conjunction with the specialist IMD clinical services to identify and monitor patients with inherited metabolic disorders. In addition, they help guide the investigation of patients suspected of having these conditions. This usually requires a dialogue with non-specialist primary and secondary care services and the development of guidelines to aid investigation. In that sense the laboratories often act as an initial point of contact and a gateway to onward referral to specialised clinical services.
Consequently MetBioNet will endeavour to:
· 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 (3 labs), Manchester (2 labs), Newcastle, Nottingham, Sheffield, Southampton. Other laboratories providing a narrow range of very specialist services are associate members. Stakeholders meet together twice annually and conduct most of their business by electronic mail.
Current initiatives of the Network are:-
Training and Education
Lead Scientist, Camila Scott with the training group leaders; Jenny Watkinson (BMS Training), George Gray and Claire Hart developed a training syllabus for Grade A pre-registration clinical scientist trainees and Higher Specialist Trainees. Both of these are accessible through the website. They are also involved in planning the new STP & HSST curricula created under Modernising Scientific Careers.
The training group co-ordinates events with the trainees committee of the BIMDG. It is also actively creating open access training resources which are available on the website.
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.
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 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.
Information technology has an increasingly important role in the delivery of services for patients with rare disorders and for the professionals working in this field. Access to services, education and advances in care are very often mediated by an accessible web presence. We have worked hard within MetBioNet to develop and maintain a useful website which is increasingly accessed by the international and national IMD community. It currently receives more than 30,000 visits per year, almost 75% of which are from international colleagues.