caa a22 4500 467933707 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20061001xx s 000 0 eng 10.1007/s10545-006-0374-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0374-0 Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom [Elektronische Daten] [Hilary Burton, Simon Sanderson, Graham Shortland, Philip Lee] Summary: Patients with inherited metabolic diseases need to be viewed as a specialist care group because of the range of expertise required for their diagnosis and management. In the UK, professional concerns have been expressed that existing services would struggle to meet needs resulting from new diagnostic and screening techniques, new treatments and increased survival. This needs assessment and service review was therefore undertaken at the request of the Joint Committee on Medical Genetics, guided by a national multidisciplinary stakeholder group. All 24 specialist centres identified in the UK provided evidence for the review. Approximately 10 000 patients are known to services and their annual number of referrals is increasing. Possible shortfalls in the number of patients attending specialist services were estimated for the UK as a whole by extrapolating the results from the region with the most comprehensive service and comparing this with known patient numbers. This analysis suggests that a further 5600 children and 3300 adults are not looked after by specialist services or have been lost to follow-up. The comprehensiveness of services was assessed using a new scoring system for clinical and organizational criteria. There are major regional disparities in the comprehensiveness of service provision across the country, with some regions having little or no specialist service. Unmet need will increase as a result of new diagnostic technologies, more effective treatments and new neonatal screening programmes; specialist services need to be developed and expanded to provide a comprehensive and more equitable service to the UK population. SSIEM and Springer, 2006 Burton Hilary Public Health Genetics Unit, Cambridge, UK aut Sanderson Simon General Practice and Primary Care Research Unit, University of Cambridge and Public Health Genetics Unit, Cambridge, UK aut Shortland Graham Department of Child Health, University Hospital of Wales, Cardiff, UK aut Lee Philip Consultant in Metabolic Medicine, Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 667-676 0141-8955 29:5<667 2006 29 10545 https://doi.org/10.1007/s10545-006-0374-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0374-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Burton Hilary Public Health Genetics Unit, Cambridge, UK aut NATIONALLICENCE 700 1- Sanderson Simon General Practice and Primary Care Research Unit, University of Cambridge and Public Health Genetics Unit, Cambridge, UK aut NATIONALLICENCE 700 1- Shortland Graham Department of Child Health, University Hospital of Wales, Cardiff, UK aut NATIONALLICENCE 700 1- Lee Philip Consultant in Metabolic Medicine, Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 667-676 0141-8955 29:5<667 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer